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  1. Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillary and Distal Myopathies

    Article • Neurology, August 2024, Wolters Kluwer Health

    Prof Corrado Angelini

  2. Duchenne muscular dystrophy: diagnosis and perspective of treatment

    Article • Journal of Translational Genetics and Genomics, July 2024, OAE Publishing

    Prof Corrado Angelini

  3. Editorial: Sleep disorders in neuromuscular diseases: treatable conditions: the evolving scenario of sleep in neuromuscular disorders

    Article • Frontiers in Neurology, July 2024, Frontiers

    Prof Corrado Angelini

  4. A severe case of MG rescued after Covid-19 infection from ICU

    Article • OBM Integrative and Complementary Medicine, June 2024, Open BioMedical Publishing Corporation

    Prof Corrado Angelini

  5. The Multifaceted Cause of Lipid Storage Myopathies, Genetics, and Treatment

    Article • Frontiers in Bioscience-Scholar, June 2024, IMR Press

    Prof Corrado Angelini

  6. E-Health & Innovation to Overcome Barriers in Neuromuscular Diseases. Report from the 3rd eNMD Congress: Pisa, Italy, 29–30 October 2021

    Article • Journal of Neuromuscular Diseases, May 2024, IOS Press

    Prof Corrado Angelini

  7. This illustrates the use of newborn screening in several neuromuscular disorders

    Article • OBM Genetics, April 2024, Open BioMedical Publishing Corporation

    Prof Corrado Angelini

  8. This study aims to analyze the coping strategies in a sample of people with several types of NMD

    Article • Muscles, April 2024, MDPI AG

    Prof Corrado Angelini

  9. Indications and contraindications of traveling at high altitude

    Article • SVOA Neurology, March 2024, ScienceVolks Limited

    Prof Corrado Angelini

  10. Newly approved drugs for neuromuscular disease.

    Article • Journal of Integrated Health, February 2024, United Research Forum

    Prof Corrado Angelini

  11. How to treat dystrophinopathy

    Article • Current Gene Therapy, February 2024, Bentham Science Publishers

    Prof Corrado Angelini

  12. A review of avalglucosidase alpha, a therapy admitted by FDA and European regulatory agencies

    Article • Expert Review of Neurotherapeutics, January 2024, Taylor & Francis

    Prof Corrado Angelini

  13. Differential Dysferlin Expression in Rat Muscle

    Article • January 2024, MDPI AG

    Prof Corrado Angelini

  14. A summary of advances of the MDPI Journal Muscles

    Article • Muscles, January 2024, MDPI AG

    Prof Corrado Angelini

  15. News and views on Duchenne, Becker and carriers of muscular dystrophy

    Article • Biomolecules, August 2023, MDPI AG

    Prof Corrado Angelini

  16. Limb–Girdle Muscular Dystrophy D2 TNPO3-Related: A Quality of Life Study

    Article • Muscles, July 2023, MDPI AG

    Prof Corrado Angelini

  17. A collection of articles dedicated to energy and metabolism

    Article • Muscles, July 2023, MDPI AG

    Prof Corrado Angelini

  18. History of international connections of myology in Europe

    Article • European Journal of Translational Myology, July 2023, PAGEPress Publications

    Prof Corrado Angelini

  19. ALL ICNMD Congresses in details

    Article • European Journal of Translational Myology, May 2023, PAGEPress Publications

    Prof Corrado Angelini

  20. The different clinical picture of two siblings affected by rare neutral lipid storage disease

    Article • Genes & Diseases, May 2023, Tsinghua University Press

    Prof Corrado Angelini, Dr Sara Missaglia

  21. Myofibrillar myopathies are due to mutations in Z-line proteins

    Article • Muscles, April 2023, MDPI AG

    Prof Corrado Angelini

  22. Explains the history and status of art in a myopathy frequent in Tunisia

    Article • Muscles, April 2023, MDPI AG

    Prof Corrado Angelini

  23. Effects of Triheptanoin on Mitochondrial Respiration and Glycolysis in Cultured Fibroblasts from Neutral Lipid Storage Disease Type M (NLSD-M) Patients

    Article • Biomolecules, March 2023, MDPI AG

    Prof Corrado Angelini

  24. Risk of stroke in different populations and relatively high altitude habitat

    Article • High Altitude Medicine & Biology, December 2022, Mary Ann Liebert Inc

    Prof Corrado Angelini

  25. A full account of metabolic myopathy,clinical signs, diagnostic odissea

    Article • Molecular Genetics and Metabolism, September 2022, Elsevier

    Prof Corrado Angelini

  26. Distinct Phenotypic and microRNA Expression in X-Linked Charcot–Marie–Tooth Correlated with a Novel Mutation in the GJB1 Gene

    Article • Muscles, May 2022, MDPI AG

    Prof Corrado Angelini

  27. Muscles—A New Open Access Journal

    Article • Muscles, March 2022, MDPI AG

    Prof Corrado Angelini

  28. A limb-girdle dystrophy due to transportin-3 a nuclear carrier of the HIV virus

    Article • Frontiers in Neurology, March 2022, Frontiers

    Prof Corrado Angelini

  29. Governance of Access in Biobanking: The Case of Telethon Network of Genetic Biobanks

    Article • Biopreservation and Biobanking, December 2021, Mary Ann Liebert Inc

    Prof Corrado Angelini

  30. A childhood case of bag-3 myofibrillar myopathy heart transplanted presenting pancreatic tumor

    Article • Journal of the Neurological Sciences, October 2021, Elsevier

    Prof Corrado Angelini

  31. In a patient with limb asymmetry calsequestrin mutation was identified

    Article • Journal of the Neurological Sciences, October 2021, Elsevier

    Prof Corrado Angelini

  32. NEW GENES AND DISEASES

    Article • Neuromuscular Disorders, October 2021, Elsevier

    Prof Corrado Angelini

  33. LIMB-girdle muscular dystrophy D2 and cytokines: A link to HTV1 resistance

    Article • Journal of the Neurological Sciences, October 2021, Elsevier

    Prof Corrado Angelini

  34. LGMD

    Article • Neuromuscular Disorders, October 2021, Elsevier

    Prof Corrado Angelini

  35. An updated review on the role of prescribed exercise in the management of Amyotrophic lateral sclerosis

    Article • Expert Review of Neurotherapeutics, August 2021, Taylor & Francis

    Prof Corrado Angelini

  36. Recurrent N209* ABHD5 mutation in two unreported families with Chanarin Dorfman Syndrome

    Article • European Journal of Translational Myology, May 2021, PAGEPress Publications

    Prof Corrado Angelini

  37. Exercise, nutrition and enzyme replacement therapy are efficacious in adult Pompe patients: report from EPOC Consortium

    Article • European Journal of Translational Myology, May 2021, PAGEPress Publications

    Prof Corrado Angelini

  38. ETF dehydrogenase advances in molecular genetics and impact on treatment

    Article • Critical Reviews in Biochemistry and Molecular Biology, April 2021, Taylor & Francis

    Prof Corrado Angelini

  39. Morphological study of TNPO3 and SRSF1 interaction during myogenesis by combining confocal, structured illumination and electron microscopy analysis

    Article • Molecular and Cellular Biochemistry, January 2021, Springer Science + Business Media

    Prof Corrado Angelini

  40. Circulating miR-206 as a Biomarker for Patients Affected by Severe Limb Girdle Muscle Dystrophies

    Article • Genes, January 2021, MDPI AG

    Prof Corrado Angelini

  41. Recommendation about going to altitude for people

    Article • Journal of Central Nervous System Disease, January 2021, SAGE Publications

    Prof Corrado Angelini

  42. Large genotype–phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis

    Article • Scientific Reports, December 2020, Springer Science + Business Media

    Prof Corrado Angelini

  43. Assessing diagnosis and managing respiratory and cardiac complications of sarcoglycanopathy

    Article • Expert Opinion on Orphan Drugs, December 2020, Taylor & Francis

    Prof Corrado Angelini

  44. Central Nervous System Involvement as Outcome Measure for Clinical Trials Efficacy in Myotonic Dystrophy Type 1

    Article • Frontiers in Neurology, October 2020, Frontiers

    Prof Corrado Angelini

  45. Diagnostic challenges in metabolic myopathies

    Article • Expert Review of Neurotherapeutics, October 2020, Taylor & Francis

    Prof Corrado Angelini

  46. MiRNAs, Myostatin, and Muscle MRI Imaging as Biomarkers of Clinical Features in Becker Muscular Dystrophy

    Article • Diagnostics, September 2020, MDPI AG

    Prof Corrado Angelini

  47. A 5-year clinical follow-up study from the Italian National Registry for FSHD

    Article • Deutsche Zeitschrift für Nervenheilkunde, August 2020, Springer Science + Business Media

    Prof Corrado Angelini

  48. Transportin 3 (TNPO3) and related proteins in limb girdle muscular dystrophy D2 muscle biopsies: A morphological study and pathogenetic hypothesis

    Article • Neuromuscular Disorders, August 2020, Elsevier

    Prof Corrado Angelini

  49. Neuromuscular diseases and Covid-19: Advices from scientific societies and early observations in Italy

    Article • European Journal of Translational Myology, June 2020, PAGEPress Publications

    Prof Corrado Angelini

  50. Phenotypic Variability Among Patients With D4Z4 Reduced Allele Facioscapulohumeral Muscular Dystrophy

    Article • JAMA Network Open, May 2020, American Medical Association (AMA)

    Prof Corrado Angelini

  51. MicroRNAs and HDAC4 protein expression in the skeletal muscle of ALS patients

    Article • Clinical Neuropathology, May 2020, Dustri-Verlgag Dr. Karl Feistle

    Prof Corrado Angelini

  52. MyomiRNAs and myostatin as physical rehabilitation biomarkers for myotonic dystrophy

    Article • Neurological Sciences, April 2020, Springer Science + Business Media

    Prof Corrado Angelini

  53. Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies

    Article • International Journal of Molecular Sciences, April 2020, MDPI AG

    Prof Corrado Angelini

  54. Correlation between ETFDH mutations and dysregulation of serum myomiRs in MADD patients

    Article • European Journal of Translational Myology, April 2020, PAGEPress Publications

    Prof Corrado Angelini

  55. Can miR-34a be suitable for monitoring sensorineural hearing loss in patients with mitochondrial disease? A case series

    Article • International Journal of Neuroscience, February 2020, Taylor & Francis

    MD, PhD Arianna Di Stadio, Prof Corrado Angelini

  56. European Federation of the Neurological Societies guidelines on the diagnostic approach to paucisymptomatic or asymptomatic hyperCKemia

    Article • Muscle & Nerve, December 2019, Wiley

    Prof Corrado Angelini

  57. MiRNAs as biomarkers of phenotype in neutral lipid storage disease with myopathy

    Article • Muscle & Nerve, November 2019, Wiley

    Prof Corrado Angelini, Dr Sara Missaglia

  58. Review: Danon disease: Review of natural history and recent advances

    Article • Neuropathology and Applied Neurobiology, November 2019, Wiley

    Prof Corrado Angelini

  59. P.88Lipid storage myopathies due to ETFDH and PNPLA2 mutations: MRI and microRNA role as biomarkers

    Article • Neuromuscular Disorders, October 2019, Elsevier

    Prof Corrado Angelini

  60. P.28Tracking cognitive changes in DM1 in a 5 year follow-up study

    Article • Neuromuscular Disorders, October 2019, Elsevier

    Prof Corrado Angelini

  61. Update on polyglucosan storage diseases

    Article • Virchows Archiv, July 2019, Springer Science + Business Media

    Prof Corrado Angelini

  62. This review explains the revised nomenclature of limb-girdle muscular dystrophies.

    Article • Expert Opinion on Orphan Drugs, May 2019, Taylor & Francis

    Prof Corrado Angelini

  63. MyomiRNAs Dysregulation in ALS Rehabilitation

    Article • Brain Sciences, January 2019, MDPI AG

    Prof Corrado Angelini

  64. This is a top review on muscle lipid metabolic disorders

    Article • Therapeutic Advances in Neurological Disorders, January 2019, SAGE Publications

    Prof Corrado Angelini

  65. Advances in imaging of brain abnormalities in neuromuscular disease

    Article • Therapeutic Advances in Neurological Disorders, January 2019, SAGE Publications

    Prof Corrado Angelini

  66. A new family with transportinopathy: increased clinical heterogeneity

    Article • Therapeutic Advances in Neurological Disorders, January 2019, SAGE Publications

    Prof Corrado Angelini

  67. Authors’ reply

    Article • Therapeutic Advances in Neurological Disorders, January 2019, SAGE Publications

    Prof Corrado Angelini

  68. Longitudinal evaluation of SMN levels as biomarker for spinal muscular atrophy: results of a phase IIb double-blind study of salbutamol

    Article • Journal of Medical Genetics, December 2018, BMJ

    Prof Corrado Angelini

  69. Clinical and genetic characterization of an Italian family with slow-channel syndrome

    Article • Neurological Sciences, December 2018, Springer Science + Business Media

    Prof Corrado Angelini

  70. Regulation of ER-mitochondria contacts by Parkin via Mfn2

    Article • Pharmacological Research, December 2018, Elsevier

    Prof Corrado Angelini

  71. Characterization of two ETFDH mutations in a novel case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

    Article • Lipids in Health and Disease, November 2018, Springer Science + Business Media

    Prof Corrado Angelini

  72. Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients

    Article • Genes, October 2018, MDPI AG

    Prof Corrado Angelini

  73. LGMD AUTOSOMAL RESSESSIVE AND DOMINANT

    Article • Neuromuscular Disorders, October 2018, Elsevier

    Prof Corrado Angelini

  74. METABOLIC MYOPATHIES I

    Article • Neuromuscular Disorders, October 2018, Elsevier

    Prof Corrado Angelini

  75. Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study

    Article • Orphanet Journal of Rare Diseases, September 2018, Springer Science + Business Media

    Prof Corrado Angelini

  76. ERRATUM: Effects of combined endurance and resistance training in Amyotrophic Lateral Sclerosis: A pilot, randomized, controlled study

    Article • European Journal of Translational Myology, September 2018, PAGEPress Publications

    Prof Corrado Angelini

  77. The role of activated microglia and its polarization is presented in CNS disorders

    Article • Mitochondrion, September 2018, Elsevier

    Prof Corrado Angelini, MD, PhD Arianna Di Stadio

  78. An update on diagnostic options and considerations in limb-girdle dystrophies

    Article • Expert Review of Neurotherapeutics, August 2018, Taylor & Francis

    Prof Corrado Angelini

  79. Pathogenetic mechanism of limb girdle muscle diseases: an integrated approach

    Article • August 2018, Morressier

    Prof Corrado Angelini

  80. MicroRNAs are appropriate in mitochondrial related hearing loss? Answer to the skepticism

    Article • Orphanet Journal of Rare Diseases, July 2018, Springer Science + Business Media

    MD, PhD Arianna Di Stadio, Prof Corrado Angelini

  81. Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease

    Article • Neuromuscular Disorders, July 2018, Elsevier

    Prof Corrado Angelini

  82. A mobile app for patients with Pompe disease and its possible clinical applications

    Article • Neuromuscular Disorders, June 2018, Elsevier

    Prof Corrado Angelini

  83. Enzyme replacement therapy for the treatment of Pompe disease

    Article • Expert Opinion on Orphan Drugs, May 2018, Taylor & Francis

    Prof Corrado Angelini

  84. Interpreting Genetic Variants in Titin in Patients With Muscle Disorders

    Article • JAMA Neurology, May 2018, American Medical Association (AMA)

    Prof Corrado Angelini, Giorgio Tasca

  85. Role of microRNAs in lipid storage myopathies. (P3.458)

    Article • Neurology, April 2018, Wolters Kluwer Health

    Prof Corrado Angelini

  86. Effects of combined endurance and resistance training in Amyotrophic Lateral Sclerosis: A pilot, randomized, controlled study

    Article • European Journal of Translational Myology, March 2018, PAGEPress Publications

    Prof Corrado Angelini

  87. Remodel mitochondria and get energized

    Article • Neurology, March 2018, Wolters Kluwer Health

    Prof Corrado Angelini

  88. Hearing impairment in MELAS: new prospective in clinical use of microRNA, a systematic review

    Article • Orphanet Journal of Rare Diseases, February 2018, Springer Science + Business Media

    MD, PhD Arianna Di Stadio, Prof Corrado Angelini

  89. This illustrates a series of neuromuscular and metabolic disorders with patients clinical feature.

    Article • January 2018, Springer Science + Business Media

    Prof Corrado Angelini

  90. Safety and efficacy of eculizumab in anti-acetylcholine receptor antibody-positive refractory generalised myasthenia gravis (REGAIN): a phase 3, randomised, double-blind, placebo-controlled, multicentre study

    Article • The Lancet Neurology, December 2017, Elsevier

    Prof Corrado Angelini

  91. Emery-Dreifuss Muscular Dystrophy Type 4

    Article • October 2017, Springer Science + Business Media

    Prof Corrado Angelini

  92. Danon Disease

    Article • October 2017, Springer Science + Business Media

    Prof Corrado Angelini

  93. Scapuloperoneal Myopathy

    Article • October 2017, Springer Science + Business Media

    Prof Corrado Angelini

  94. Amyotrophic Lateral Sclerosis

    Article • October 2017, Springer Science + Business Media

    Prof Corrado Angelini

  95. Clinical variability in myotonic dystrophy type 1: a five-categories disease classification fits clinical but not brain complexity

    Article • Neuromuscular Disorders, October 2017, Elsevier

    Prof Corrado Angelini

  96. Report on nationwide Italian collaborative network for muscle glycogen storage disorders

    Article • Neuromuscular Disorders, October 2017, Elsevier

    Prof Corrado Angelini

  97. Micro-RNAs in ALS muscle: Differences in gender, age at onset and disease duration

    Article • Journal of the Neurological Sciences, September 2017, Elsevier

    Prof Corrado Angelini

  98. Limb girdle muscular dystrophies: clinical-genetical diagnostic update and prospects for therapy

    Article • Expert Opinion on Orphan Drugs, August 2017, Taylor & Francis

    Prof Corrado Angelini

  99. ATP1A3 mutant patient with alternating hemiplegia of childhood and brain spectroscopic abnormalities

    Article • Journal of the Neurological Sciences, August 2017, Elsevier

    Prof Corrado Angelini

  100. Aberrant Compartment Formation by HSPB2 Mislocalizes Lamin A and Compromises Nuclear Integrity and Function

    Article • Cell Reports, August 2017, Elsevier

    Prof Corrado Angelini

  101. Revisiting mitochondrial ocular myopathies: a study from the Italian Network

    Article • Deutsche Zeitschrift für Nervenheilkunde, July 2017, Springer Science + Business Media

    Prof Corrado Angelini

  102. study of biopsies in late onset pompe cases

    Article • Neuropathology and Applied Neurobiology, July 2017, Wiley

    Prof Corrado Angelini

  103. Erratum to: Muscle MRI in neutral lipid storage disease (NLSD)

    Article • Deutsche Zeitschrift für Nervenheilkunde, June 2017, Springer Science + Business Media

    Giorgio Tasca, Prof Corrado Angelini

  104. Muscle MRI in neutral lipid storage disease (NLSD)

    Article • Deutsche Zeitschrift für Nervenheilkunde, May 2017, Springer Science + Business Media

    Giorgio Tasca, Prof Corrado Angelini

  105. Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients

    Article • Orphanet Journal of Rare Diseases, May 2017, Springer Science + Business Media

    Prof Corrado Angelini

  106. Presents an expert consensus at the European level of results of ERT in late-onset Pompe disease

    Article • European Journal of Neurology, May 2017, Wiley

    Prof Corrado Angelini

  107. Generation of induced Pluripotent Stem Cells as disease modelling of NLSDM

    Article • Molecular Genetics and Metabolism, May 2017, Elsevier

    Prof Corrado Angelini

  108. Corrigendum to “Response to: Mitochondrial neuropathy affects peripheral and cranial nerves and is primary or secondary or both” [Neuromuscular Disorders 26/8 (2016) 549]

    Article • Neuromuscular Disorders, April 2017, Elsevier

    Prof Corrado Angelini

  109. Cerebral venous thrombosis at high altitude: A systematic review

    Article • Revue Neurologique, April 2017, Elsevier

    Prof Corrado Angelini, Dr Mariangela Panebianco

  110. Elevated Expression of Moesin in Muscular Dystrophies

    Article • American Journal Of Pathology, March 2017, Elsevier

    Prof Corrado Angelini

  111. Metabolites-mitochondria-macrophages (MMM): new therapeutic avenues for inflammation and muscle atrophy

    Article • Translational Cancer Research, February 2017, AME Publishing Company

    Prof Corrado Angelini

  112. Micro-RNA expression in muscle and fiber morphometry in myotonic dystrophy type 1

    Article • Neurological Sciences, January 2017, Springer Science + Business Media

    Prof Corrado Angelini

  113. Targeting deregulated AMPK/mTORC1 pathways improves muscle function in myotonic dystrophy type I

    Article • Journal of Clinical Investigation, January 2017, American Society for Clinical Investigation

    Prof Corrado Angelini

  114. The role of transmission electron microscopy in vacuole-associated myopathies

    Article • Ultrastructural Pathology, January 2017, Taylor & Francis

    Prof Corrado Angelini

  115. Study of TFEB and experiments on DAnon and Pompe fibroblasts.

    Article • Cell Death and Disease, January 2017, Springer Science + Business Media

    Prof Corrado Angelini

  116. Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene Mutations

    Article • JIMD Reports, January 2017, Springer Science + Business Media

    Prof Corrado Angelini

  117. Coverage of pathogenesis and clinical features of alphabet,gamma,delta sarcoglycanopathies.

    Article • Expert Opinion on Orphan Drugs, November 2016, Taylor & Francis

    Prof Corrado Angelini

  118. Study of a cohort of myotonic dystrophy patients with anew FES protocol and aerobic exercise

    Article • American Journal of Physical Medicine & Rehabilitation, November 2016, Wolters Kluwer Health

    Prof Corrado Angelini

  119. The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis

    Article • Muscle & Nerve, October 2016, Wiley

    Prof Corrado Angelini, Giorgio Tasca

  120. Review of the state of the art in dysferlin deficient patients.

    Article • Muscle & Nerve, October 2016, Wiley

    Prof Corrado Angelini

  121. NMR voxel-based morphometry and functional analysis as neural correlates of neuropsychological dysfunction in DM1

    Article • Neuromuscular Disorders, October 2016, Elsevier

    Prof Corrado Angelini

  122. Functional studied in Becker muscular dystrophy.

    Article • Scientific Reports, September 2016, Springer Science + Business Media

    Prof Corrado Angelini

  123. MicroRNA signatures predict dysregulated vitamin D receptor and calcium pathways status in limb girdle muscle dystrophies (LGMD) 2A/2B

    Article • Cell Biochemistry and Function, August 2016, Wiley

    Prof Corrado Angelini

  124. Response to: Mitochondrial neuropathy affects peripheral and cranial nerves and is primary or secondary or both

    Article • Neuromuscular Disorders, August 2016, Elsevier

    Prof Corrado Angelini

  125. Lipolysis and lipophagy in lipid storage myopathies

    Article • Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, July 2016, Elsevier

    Prof Corrado Angelini

  126. The genetic basis of undiagnosed muscular dystrophies and myopathies

    Article • Neurology, June 2016, Wolters Kluwer Health

    Prof Corrado Angelini, Giorgio Tasca

  127. Identification of an intragenic deletion in the SGCB gene through a re-evaluation of negative next generation sequencing results

    Article • Neuromuscular Disorders, June 2016, Elsevier

    Prof Corrado Angelini

  128. A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes

    Article • Deutsche Zeitschrift für Nervenheilkunde, April 2016, Springer Science + Business Media

    Prof Corrado Angelini

  129. Next generation sequencing detection of late onset pompe disease

    Article • Muscle & Nerve, April 2016, Wiley

    Prof Corrado Angelini

  130. Disease awareness in myotonic dystrophy type 1: an observational cross-sectional study

    Article • Orphanet Journal of Rare Diseases, April 2016, Springer Science + Business Media

    Prof Corrado Angelini

  131. “Mitochondrial neuropathies”: A survey from the large cohort of the Italian Network

    Article • Neuromuscular Disorders, April 2016, Elsevier

    Prof Corrado Angelini

  132. Challenges and progress in the diagnosis of Congenital Muscular Dystrophies

    Article • Expert Opinion on Orphan Drugs, February 2016, Informa Healthcare

    Prof Corrado Angelini

  133. Relationship between neuropsychological impairment and grey and white matter changes in adult-onset myotonic dystrophy type 1

    Article • NeuroImage Clinical, February 2016, Elsevier

    Prof Corrado Angelini

  134. Neuromuscular disorders of autoimmune or endocrinological causes are presented.

    Article • January 2016, Springer Science + Business Media

    Prof Corrado Angelini

  135. The most interesting result is that there is a high clinical variability in children. with FSHD1

    Article • BMJ Open, January 2016, BMJ

    Prof Corrado Angelini

  136. Circulating microRNAs as biomarkers of muscle differentiation and atrophy in ALS

    Article • Clinical Neuropathology, January 2016, Dustri-Verlgag Dr. Karl Feistle

    Prof Corrado Angelini

  137. Diagnosis and discovery in limb-girdle muscular dystrophy

    Article • Nature Reviews Neurology, December 2015, Springer Science + Business Media

    Prof Corrado Angelini

  138. LGMD phenotype due to a new gene and dysferlinopathy investigated by next-generation sequencing

    Article • Neurology Genetics, December 2015, Wolters Kluwer Health

    Prof Corrado Angelini

  139. Reply

    Article • Muscle & Nerve, November 2015, Wiley

    Prof Corrado Angelini

  140. Erratum to: Redefining phenotypes associated with mitochondrial DNA single deletion

    Article • Deutsche Zeitschrift für Nervenheilkunde, November 2015, Springer Science + Business Media

    Prof Corrado Angelini

  141. Genetic Modifiers of Duchenne Muscular Dystrophy and Dilated Cardiomyopathy

    Article • PLoS ONE, October 2015, PLOS

    Prof Corrado Angelini, Dr Vincenzo Calvo

  142. Are white matters changes in dm1 brain related to anosognosia?

    Article • Journal of the Neurological Sciences, October 2015, Elsevier

    Prof Corrado Angelini

  143. Biomarkers in skeletal muscle rehabilitation in myotonic dystrophy

    Article • Journal of the Neurological Sciences, October 2015, Elsevier

    Prof Corrado Angelini

  144. Familial polyglucosan body myopathy: A clinical spectrum

    Article • Journal of the Neurological Sciences, October 2015, Elsevier

    Prof Corrado Angelini

  145. Investigation of regulatory factors in Lipid Storage Myopathies (LSM) with triglyceride accumulation

    Article • Journal of the Neurological Sciences, October 2015, Elsevier

    Prof Corrado Angelini

  146. Large screening of patients diagnosed as limb girdle muscular dystrophy or congenital myopathy using Motorplex

    Article • Neuromuscular Disorders, October 2015, Elsevier

    Prof Corrado Angelini

  147. Longitudinal functional measures in Becker muscular dystrophy: Implications for clinical trials and Duchenne exon skipping outcomes

    Article • Neuromuscular Disorders, October 2015, Elsevier

    Prof Corrado Angelini

  148. GYG1gene mutations in a family with polyglucosan body myopathy

    Article • Neurology Genetics, September 2015, Wolters Kluwer Health

    Prof Corrado Angelini

  149. [An] enumeration shall be made…

    Article • Neurology, September 2015, Wolters Kluwer Health

    Prof Corrado Angelini

  150. TNF-α-Induced microRNAs Control Dystrophin Expression in Becker Muscular Dystrophy

    Article • Cell Reports, September 2015, Elsevier

    Prof Corrado Angelini

  151. This paper explains the development of deflazacort now available as Defla from PTC in US and Canada

    Article • Orphan Drugs Research and Reviews, August 2015, Dove Medical Press

    Prof Corrado Angelini

  152. 208th ENMC International Workshop: Formation of a European Network to develop a European data sharing model and treatment guidelines for Pompe disease Naarden, The Netherlands, 26–28 September 2014

    Article • Neuromuscular Disorders, August 2015, Elsevier

    Prof Corrado Angelini

  153. Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations

    Article • Neuromuscular Disorders, July 2015, Elsevier

    Prof Corrado Angelini, Giorgio Tasca

  154. Incomplete penetrance in limb-girdle muscular dystrophy type 1F

    Article • Muscle & Nerve, June 2015, Wiley

    Prof Corrado Angelini

  155. Novel missense mutations in PNPLA2 causing late onset and clinical heterogeneity of neutral lipid storage disease with myopathy in three siblings

    Article • Molecular Genetics and Metabolism, June 2015, Elsevier

    Prof Corrado Angelini

  156. Protein and genetic diagnosis of limb girdle muscular dystrophy type 2A: The yield and the pitfalls

    Article • Muscle & Nerve, May 2015, Wiley

    Prof Corrado Angelini

  157. Inhibition of muscle fibrosis results in increases in both utrophin levels and the number of revertant myofibers in Duchenne muscular dystrophy

    Article • Oncotarget, May 2015, Impact Journals, LLC

    Prof Corrado Angelini

  158. Impaired autophagy affects acid α-glucosidase processing and enzyme replacement therapy efficacy in late-onset glycogen storage disease type II

    Article • Neuropathology and Applied Neurobiology, May 2015, Wiley

    Prof Corrado Angelini

  159. Burden, professional support, and social network in families of children and young adults with muscular dystrophies

    Article • Muscle & Nerve, April 2015, Wiley

    Prof Corrado Angelini

  160. Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E

    Article • Neurology, April 2015, Wolters Kluwer Health

    Prof Corrado Angelini

  161. Spectrum of metabolic myopathies

    Article • Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, April 2015, Elsevier

    Prof Corrado Angelini

  162. Redefining phenotypes associated with mitochondrial DNA single deletion

    Article • Deutsche Zeitschrift für Nervenheilkunde, March 2015, Springer Science + Business Media

    Prof Corrado Angelini

  163. LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population

    Article • Journal of Neurology Neurosurgery & Psychiatry, March 2015, BMJ

    Prof Corrado Angelini

  164. Familial polyglucosan body myopathy with unusual phenotype

    Article • Neuropathology and Applied Neurobiology, March 2015, Wiley

    Prof Corrado Angelini

  165. Ergebnisse und Empfehlungen des 7th European Hypoxia Symposiums 2014

    Article • German Journal of Sports Medicine, March 2015, Deutsche Zeitschrift Fur Sportmedizin

    Prof Corrado Angelini

  166. Prevalence of Asymptomatic Vertebral Fractures in Late-Onset Pompe Disease

    Article • The Journal of Clinical Endocrinology & Metabolism, February 2015, Endocrine Society

    MD MARIA SOFIA COTELLI, Prof Corrado Angelini

  167. Prevention of cardiomyopathy in Duchenne muscular dystrophy

    Article • The Lancet Neurology, February 2015, Elsevier

    Prof Corrado Angelini

  168. Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure

    Article • European Journal of Human Genetics, January 2015, Springer Science + Business Media

    Prof Corrado Angelini

  169. Erratum: Measurement of the absolute branching fractions forDs−→

    Article • Physical Review D, January 2015, American Physical Society (APS)

    Prof Corrado Angelini

  170. The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases

    Article • European Journal of Human Genetics, December 2014, Springer Science + Business Media

    Prof Corrado Angelini, Manuel Posada

  171. Dominant muscular dystrophy with a novelSYNE1gene mutation

    Article • Muscle & Nerve, November 2014, Wiley

    Prof Corrado Angelini

  172. Impaired copper and iron metabolism in blood cells and muscles of patients affected by copper deficiency myeloneuropathy

    Article • Neuropathology and Applied Neurobiology, November 2014, Wiley

    Prof Corrado Angelini

  173. T.P.18

    Article • Neuromuscular Disorders, October 2014, Elsevier

    Prof Corrado Angelini

  174. G.O.7

    Article • Neuromuscular Disorders, October 2014, Elsevier

    Prof Corrado Angelini

  175. G.P.251

    Article • Neuromuscular Disorders, October 2014, Elsevier

    Prof Corrado Angelini

  176. Genotype-phenotype correlation in Pompe disease, a step forward

    Article • Orphanet Journal of Rare Diseases, August 2014, Springer Science + Business Media

    Prof Corrado Angelini

  177. Skeletal Muscle Satellite Cells in Amyotrophic Lateral Sclerosis

    Article • Ultrastructural Pathology, July 2014, Taylor & Francis

    Prof Corrado Angelini

  178. Muscle atrophy, ubiquitin-proteasome, and autophagic pathways in dysferlinopathy

    Article • Muscle & Nerve, May 2014, Wiley

    Prof Corrado Angelini

  179. Improving the knowledge of amyotrophic lateral sclerosis genetics: novel SOD1 and FUS variants

    Article • Neurobiology of Aging, May 2014, Elsevier

    Prof Corrado Angelini

  180. Gender difference in limb-girdle muscular dystrophy: a muscle fiber morphometric study in 101 patients

    Article • Clinical Neuropathology, May 2014, Dustri-Verlgag Dr. Karl Feistle

    Prof Corrado Angelini

  181. CIR-Myo News: Proceedings of the 2014 Spring Padua Muscle Days

    Article • European Journal of Translational Myology, March 2014, PAGEPress Publications

    Prof Corrado Angelini

  182. Neurologia Clinica

    Article • March 2014, Societa Editrice Esculapio

    Prof Corrado Angelini

  183. Myoclonus in mitochondrial disorders

    Article • Movement Disorders, February 2014, Wiley

    Prof Corrado Angelini

  184. Alterations in Notch signalling in skeletal muscles from mdx and dko dystrophic mice and patients with Duchenne muscular dystrophy

    Article • Quarterly Journal of Experimental Physiology and Cognate Medical Sciences, January 2014, Wiley

    Prof Corrado Angelini

  185. Genetic Neuromuscular Disorders

    Article • January 2014, Springer Science + Business Media

    Prof Corrado Angelini

  186. Limb-Girdle Muscular Dystrophy Type 2F

    Article • January 2014, Springer Science + Business Media

    Prof Corrado Angelini

  187. Limb-Girdle Muscular Dystrophy Type 2N

    Article • January 2014, Springer Science + Business Media

    Prof Corrado Angelini

  188. Limb-Girdle Muscular Dystrophy Type 2K

    Article • January 2014, Springer Science + Business Media

    Prof Corrado Angelini

  189. Amyotrophic Lateral Sclerosis Type 1

    Article • January 2014, Springer Science + Business Media

    Prof Corrado Angelini

  190. Ataxia-Telangiectasia, Louis-Bar Syndrome

    Article • January 2014, Springer Science + Business Media

    Prof Corrado Angelini

  191. Glycogenosis Type 3, Cori-Forbes Disease

    Article • January 2014, Springer Science + Business Media

    Prof Corrado Angelini

  192. Niemann-Pick Disease Type C1

    Article • January 2014, Springer Science + Business Media

    Prof Corrado Angelini

  193. Myotonic Dystrophy Type 2, Proximal Myotonic Myopathy

    Article • January 2014, Springer Science + Business Media

    Prof Corrado Angelini

  194. Spastic Ataxia, Charlevoix-Saguenay Type

    Article • January 2014, Springer Science + Business Media

    Prof Corrado Angelini

  195. Multiple Acyl-CoA Dehydrogenase Deficiency

    Article • January 2014, Springer Science + Business Media

    Prof Corrado Angelini

  196. Systemic Primary Carnitine Deficiency

    Article • January 2014, Springer Science + Business Media

    Prof Corrado Angelini

  197. Kearns-Sayre Syndrome

    Article • January 2014, Springer Science + Business Media

    Prof Corrado Angelini

  198. Brody Disease

    Article • January 2014, Springer Science + Business Media

    Prof Corrado Angelini

  199. Limb-Girdle Muscular Dystrophy Type 2C

    Article • January 2014, Springer Science + Business Media

    Prof Corrado Angelini

  200. Charcot-Marie-Tooth Neuropathy with Pyramidal Features

    Article • January 2014, Springer Science + Business Media

    Prof Corrado Angelini

  201. Myotonic Dystrophy Type 1, Steinert Disease

    Article • January 2014, Springer Science + Business Media

    Prof Corrado Angelini

  202. Hereditary Inclusion Body Myopathy Type 2

    Article • January 2014, Springer Science + Business Media

    Prof Corrado Angelini

  203. Autophagy in Natural History and After ERT in Glycogenosis Type II

    Article • January 2014, Springer Science + Business Media

    Prof Corrado Angelini

  204. Limb-Girdle Muscular Dystrophies

    Article • January 2014, Elsevier

    Prof Corrado Angelini

  205. Friedreich’s Ataxia

    Article • January 2014, Springer Science + Business Media

    Prof Corrado Angelini

  206. Limb-Girdle Muscular Dystrophy Type 1B

    Article • January 2014, Springer Science + Business Media

    Prof Corrado Angelini

  207. The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?

    Article • Deutsche Zeitschrift für Nervenheilkunde, December 2013, Springer Science + Business Media

    Prof Corrado Angelini

  208. A New Self-Report Quality of Life Questionnaire for Children With Neuromuscular Disorders

    Article • Journal of Child Neurology, December 2013, SAGE Publications

    Prof Corrado Angelini

  209. “I have got something positive out of this situation”: psychological benefits of caregiving in relatives of young people with muscular dystrophy

    Article • Deutsche Zeitschrift für Nervenheilkunde, November 2013, Springer Science + Business Media

    Prof Corrado Angelini

  210. Muscle atrophy in Limb Girdle Muscular Dystrophy 2A: a morphometric and molecular study

    Article • Neuropathology and Applied Neurobiology, October 2013, Wiley

    Prof Corrado Angelini

  211. Erratum: Measurement of theD*(2010)...

    Article • Physical Review Letters, October 2013, American Physical Society (APS)

    Prof Corrado Angelini

  212. Erratum: Measurement of theD*(2010)...

    Article • Physical Review D, October 2013, American Physical Society (APS)

    Prof Corrado Angelini

  213. P.5.7 Limb-girdle muscular dystrophy type 2E: Clinical, genetic and histopathological features of 27 European patients

    Article • Neuromuscular Disorders, October 2013, Elsevier

    Prof Corrado Angelini

  214. P.17.5 Analysis of motor assessments administered at treatment initiation for patients in the pompe registry

    Article • Neuromuscular Disorders, October 2013, Elsevier

    Prof Corrado Angelini

  215. P.5.10 Clinical and ultrastructural changes in transportinopathy

    Article • Neuromuscular Disorders, October 2013, Elsevier

    Prof Corrado Angelini

  216. P.12.2 Dominant distal myopathy due to slow channelopathy

    Article • Neuromuscular Disorders, October 2013, Elsevier

    Prof Corrado Angelini

  217. P.6.4 Salbutamol tolerability and efficacy in adult type III SMA patients: Results of a multicentric, molecular and clinical, double-blind, placebo-controlled study

    Article • Neuromuscular Disorders, October 2013, Elsevier

    Prof Corrado Angelini

  218. Large scale genotype–phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy

    Article • Brain, September 2013, Oxford University Press (OUP)

    Prof Corrado Angelini

  219. Enzyme Replacement Therapy Improves Respiratory Outcomes in Patients with Late-Onset Type II Glycogenosis and High Ventilator Dependency

    Article • Lung, July 2013, Springer Science + Business Media

    Prof Corrado Angelini

  220. Next-Generation Sequencing Identifies Transportin 3 as the Causative Gene for LGMD1F

    Article • PLoS ONE, May 2013, PLOS

    Prof Corrado Angelini

  221. Pilot trial of clenbuterol in spinal and bulbar muscular atrophy

    Article • Neurology, May 2013, Wolters Kluwer Health

    Prof Corrado Angelini

  222. Therapeutic advances in the management of Pompe disease and other metabolic myopathies

    Article • Therapeutic Advances in Neurological Disorders, May 2013, SAGE Publications

    Prof Corrado Angelini

  223. Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation

    Article • Neurology, May 2013, Wolters Kluwer Health

    Prof Corrado Angelini

  224. Clinical phenotype, muscle MRI and muscle pathology of LGMD1F

    Article • Deutsche Zeitschrift für Nervenheilkunde, April 2013, Springer Science + Business Media

    Prof Corrado Angelini

  225. EFNS review on the role of muscle biopsy in the investigation of myalgia

    Article • European Journal of Neurology, April 2013, Wiley

    Prof Corrado Angelini

  226. Publisher’s Note: Search for di-muon decays of a low-mass Higgs boson in radiative decays of theΥ(1S...

    Article • Physical Review D, March 2013, American Physical Society (APS)

    Prof Corrado Angelini

  227. Erratum: Branching fraction measurements of the color-suppressed decaysB¯0

    Article • Physical Review D, February 2013, American Physical Society (APS)

    Prof Corrado Angelini

  228. New treatments for myasthenia: a focus on antisense oligonucleotides

    Article • Drug Design Development and Therapy, January 2013, Taylor & Francis

    Prof Corrado Angelini

  229. Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy

    Article • Brain, January 2013, Oxford University Press (OUP)

    Prof Corrado Angelini

  230. Autonomic regulation in muscular dystrophy

    Article • Frontiers in Physiology, January 2013, Frontiers

    Prof Corrado Angelini

  231. Disruption of skeletal muscle mitochondrial network genes and miRNAs in amyotrophic lateral sclerosis

    Article • Neurobiology of Disease, January 2013, Elsevier

    Prof Corrado Angelini

  232. Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship

    Article • Orphanet Journal of Rare Diseases, January 2013, Springer Science + Business Media

    Prof Corrado Angelini

  233. Evaluation of muscle biopsy in late-onset GSDII patients before and after enzyme replacement therapy (ERT)

    Article • BMC Musculoskeletal Disorders, January 2013, Springer Science + Business Media

    Prof Corrado Angelini

  234. Targeted array comparative genomic hybridization – A new diagnostic tool for the detection of large copy number variations in nemaline myopathy-causing genes

    Article • Neuromuscular Disorders, January 2013, Elsevier

    Prof Corrado Angelini

  235. Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases

    Article • Orphanet Journal of Rare Diseases, January 2013, Springer Science + Business Media

    Prof Corrado Angelini

  236. Ultrastructural changes in LGMD1F

    Article • Neuropathology, December 2012, Wiley

    Prof Corrado Angelini

  237. Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseases

    Article • Neuromuscular Disorders, December 2012, Elsevier

    Prof Corrado Angelini

  238. Fatigue in muscular dystrophies

    Article • Neuromuscular Disorders, December 2012, Elsevier

    Prof Corrado Angelini

  239. Impaired autophagy contributes to muscle atrophy in glycogen storage disease type II patients

    Article • Autophagy, November 2012, Taylor & Francis

    Prof Corrado Angelini

  240. Measuring quality of life impairment in skeletal muscle channelopathies

    Article • European Journal of Neurology, November 2012, Wiley

    Prof Corrado Angelini

  241. Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study

    Article • European Journal of Human Genetics, October 2012, Springer Science + Business Media

    Prof Corrado Angelini

  242. S.P.24 24-Hour Holter ECG in type II and III SMA

    Article • Neuromuscular Disorders, October 2012, Elsevier

    Prof Corrado Angelini

  243. D.O.3 Next generation sequencing applications are ready for genetic diagnosis of muscular dystrophies

    Article • Neuromuscular Disorders, October 2012, Elsevier

    Prof Corrado Angelini

  244. D.P.13 Targeted array CGH analysis of the nebulin gene: Identification of large deletions causing nemaline myopathy

    Article • Neuromuscular Disorders, October 2012, Elsevier

    Prof Corrado Angelini

  245. TGFBR2 but not SPP1 genotype modulates osteopontin expression in Duchenne muscular dystrophy muscle

    Article • The Journal of Pathology, August 2012, Wiley

    Prof Corrado Angelini

  246. Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy

    Article • Neurology, June 2012, Wolters Kluwer Health

    Prof Corrado Angelini

  247. Rippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying a heterozygous CAV3 T78M mutation and a D4Z4 partial deletion: Further evidence for “double trouble” overlapping syndromes

    Article • Neuromuscular Disorders, June 2012, Elsevier

    Prof Corrado Angelini

  248. Assessment of mitochondrial respiratory chain enzymatic activities on tissues and cultured cells

    Article • Nature Protocols, May 2012, Springer Science + Business Media

    Prof Corrado Angelini

  249. The role of autophagy in the pathogenesis of glycogen storage disease type II (GSDII)

    Article • Cell Death and Differentiation, May 2012, Springer Science + Business Media

    Prof Corrado Angelini

  250. New motor outcome function measures in evaluation of Late‐Onset Pompe disease before and after enzyme replacement therapy

    Article • Muscle & Nerve, May 2012, Wiley

    Prof Corrado Angelini

  251. Erratum: Search forCPviolation in the decay

    Article • Physical Review D, May 2012, American Physical Society (APS)

    Prof Corrado Angelini

  252. Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy

    Article • European Journal of Human Genetics, May 2012, Springer Science + Business Media

    Prof Corrado Angelini

  253. An intronic mutation causes severe LGMD2A in a large inbred family belonging to a genetic isolate in the Alps

    Article • Clinical Genetics, April 2012, Wiley

    Dr Francesco Benedicenti, Prof Corrado Angelini

  254. Large-Scale Population Analysis Challenges the Current Criteria for the Molecular Diagnosis of Fascioscapulohumeral Muscular Dystrophy

    Article • The American Journal of Human Genetics, April 2012, Elsevier

    Prof Corrado Angelini

  255. Atypical onset in a series of 122 cases with FacioScapuloHumeral Muscular Dystrophy

    Article • Clinical Neurology and Neurosurgery, April 2012, Elsevier

    Prof Corrado Angelini

  256. Calpain 3 is important for muscle regeneration: Evidence from patients with limb girdle muscular dystrophies

    Article • BMC Musculoskeletal Disorders, March 2012, Springer Science + Business Media

    Prof Corrado Angelini

  257. Publisher’s Note: Observation of the baryonicBdecay

    Article • Physical Review D, February 2012, American Physical Society (APS)

    Prof Corrado Angelini

  258. CAG repeat length in androgen receptor gene is not associated with amyotrophic lateral sclerosis

    Article • European Journal of Neurology, January 2012, Wiley

    Prof Corrado Angelini

  259. Aberrant splicing and expression of the non muscle myosin heavy-chain gene MYH14 in DM1 muscle tissues

    Article • Neurobiology of Disease, January 2012, Elsevier

    Prof Corrado Angelini

  260. Neuromuscular diseases: advances in therapy and diagnosis

    Article • The Lancet Neurology, January 2012, Elsevier

    Prof Corrado Angelini

  261. Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years

    Article • Deutsche Zeitschrift für Nervenheilkunde, November 2011, Springer Science + Business Media

    Prof Corrado Angelini

  262. Publisher’s Note: Study of radiative bottomonium transitions using converted photons [Phys. Rev. DPRVDAQ1550-799884, 072002 (2011)]

    Article • Physical Review D, November 2011, American Physical Society (APS)

    Prof Corrado Angelini

  263. Optimization of respiratory chain enzymatic assays in muscle for the diagnosis of mitochondrial disorders

    Article • Mitochondrion, November 2011, Elsevier

    Prof Corrado Angelini

  264. Enzyme Replacement Therapy for Pompe Disease

    Article • Current Neurology and Neuroscience Reports, October 2011, Springer Science + Business Media

    Prof Corrado Angelini

  265. Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency

    Article • Clinical Genetics, October 2011, Wiley

    Prof Corrado Angelini

  266. P2.27 Full exome resequencing by next generation sequencing (NGS) combined with chip analysis for the genetic testing of unclassified myopathic patients

    Article • Neuromuscular Disorders, October 2011, Elsevier

    Prof Corrado Angelini

  267. Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations

    Article • Muscle & Nerve, September 2011, Wiley

    Prof Corrado Angelini

  268. Diagnostic Approach to Pauci- or Asymptomatic hyperCKemia

    Article • September 2011, Wiley

    Prof Corrado Angelini

  269. Parkinson-like features in ALS with predominant upper motor neuron involvement

    Article • Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders, August 2011, Taylor & Francis

    Prof Diego Cecchin, Prof Corrado Angelini

  270. ALS risk but not phenotype is affected by ataxin-2 intermediate length polyglutamine expansion

    Article • Neurology, June 2011, Wolters Kluwer Health

    Prof Corrado Angelini

  271. Study of Muscle Autophagy and Atrophy Markers in Different Phenotypes of Pompe Disease

    Article • Clinical Therapeutics, June 2011, Elsevier

    Prof Corrado Angelini

  272. Outcome Measures in Juvenile/Adult GSDII Cases

    Article • Clinical Therapeutics, June 2011, Elsevier

    Prof Corrado Angelini

  273. Pompe Disease Diagnosis, Treatment, and Outcomes in Italy: Pompe Disease Registry Data from Italy Compared with the Rest-of-World

    Article • Clinical Therapeutics, June 2011, Elsevier

    Prof Corrado Angelini

  274. Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations

    Article • European Journal of Human Genetics, April 2011, Springer Science + Business Media

    Prof Corrado Angelini

  275. Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland

    Article • European Journal of Human Genetics, March 2011, Springer Science + Business Media

    Prof Corrado Angelini

  276. Cognitive profile and MRI findings in limb-girdle muscular dystrophy 2I

    Article • Deutsche Zeitschrift für Nervenheilkunde, February 2011, Springer Science + Business Media

    Prof Corrado Angelini

  277. Erratum to: Comparison of muscle ultrastructure in myasthenia gravis with anti-MuSK and anti-AChR antibodies

    Article • Deutsche Zeitschrift für Nervenheilkunde, January 2011, Springer Science + Business Media

    Prof Corrado Angelini

  278. Genotype-phenotype correlations in a large series of patients with muscle type CPT II deficiency

    Article • Neurological Research, January 2011, Taylor & Francis

    Prof Corrado Angelini

  279. Diagnosis and Management of Autoimmune Myasthenia Gravis

    Article • Clinical Drug Investigation, January 2011, Springer Science + Business Media

    Prof Corrado Angelini

  280. A type of Amyotrophic Lateral Sclerosis or Lou Gehrig disease has genetic biomarkers

    Article • Neurodegenerative Diseases, January 2011, Karger Publishers

    Prof Corrado Angelini

  281. SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy

    Article • Neurology, December 2010, Wolters Kluwer Health

    Prof Corrado Angelini

  282. Comparison of muscle ultrastructure in myasthenia gravis with anti-MuSK and anti-AChR antibodies

    Article • Deutsche Zeitschrift für Nervenheilkunde, November 2010, Springer Science + Business Media

    Prof Corrado Angelini

  283. Abnormal expression of dysferlin in skeletal muscle and monocytes supports primary dysferlinopathy in patients with one mutated allele

    Article • European Journal of Neurology, October 2010, Wiley

    Prof Corrado Angelini

  284. P2.32 The frequency of myotonic dystrophy type 2 (DM2) and type 1 (DM1) mutations in the population

    Article • Neuromuscular Disorders, October 2010, Elsevier

    Prof Corrado Angelini

  285. Retrospective study on PET–SPECT imaging in a large cohort of myotonic dystrophy type 1 patients

    Article • Neurological Sciences, September 2010, Springer Science + Business Media

    Prof Corrado Angelini

  286. Long-term follow-up results in enzyme replacement therapy for Pompe disease: a case report

    Article • Journal of Inherited Metabolic Disease, September 2010, Springer Science + Business Media

    Prof Corrado Angelini

  287. A review of what is known about fatty acids inherited defects

    Article • September 2010, Wiley

    Prof Corrado Angelini

  288. Transcriptional and translational effects of intronic CAPN3 gene mutations

    Article • Human Mutation, July 2010, Wiley

    Prof Corrado Angelini

  289. Right hemisphere dysfunction and emotional processing in ALS: an fMRI study

    Article • Deutsche Zeitschrift für Nervenheilkunde, July 2010, Springer Science + Business Media

    Professor Carlo Semenza, Prof Corrado Angelini

  290. The Role of Ultrastructural Examination in Storage Diseases

    Article • Ultrastructural Pathology, June 2010, Taylor & Francis

    Prof Corrado Angelini

  291. Psychopathological features and suicidal ideation in amyotrophic lateral sclerosis patients

    Article • Neurological Sciences, June 2010, Springer Science + Business Media

    Professor Carlo Semenza, Prof Corrado Angelini

  292. Metabolic myopathies: the challenge of new treatments

    Article • Current Opinion in Pharmacology, June 2010, Elsevier

    Prof Corrado Angelini

  293. A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score

    Article • Muscle & Nerve, May 2010, Wiley

    Prof Corrado Angelini

  294. Normal myogenesis and increased apoptosis in myotonic dystrophy type-1 muscle cells

    Article • Cell Death and Differentiation, April 2010, Springer Science + Business Media

    Prof Corrado Angelini

  295. EFNS guidelines on the diagnostic approach to pauci- or asymptomatic hyperCKemia

    Article • European Journal of Neurology, April 2010, Wiley

    Prof Corrado Angelini

  296. Italian validation of INQoL, a quality of life questionnaire for adults with muscle diseases

    Article • European Journal of Neurology, March 2010, Wiley

    Prof Corrado Angelini

  297. Subacute sensory ataxia and optic neuropathy with thiamine deficiency

    Article • Nature Reviews Neurology, March 2010, Springer Science + Business Media

    Prof Corrado Angelini

  298. Brain involvement in myotonic dystrophies: neuroimaging and neuropsychological comparative study in DM1 and DM2

    Article • Deutsche Zeitschrift für Nervenheilkunde, March 2010, Springer Science + Business Media

    Prof Corrado Angelini

  299. MRI in the assessment of muscular pathology: a comparison between limb-girdle muscular dystrophies, hyaline body myopathies and myotonic dystrophies

    Article • La radiologia medica, February 2010, Springer Science + Business Media

    Prof Corrado Angelini

  300. This represents an accurate description of disease course in two main LGMD

    Article • Neurological Research, February 2010, Taylor & Francis

    Prof Corrado Angelini

  301. Quality of life and motor impairment in ALS: Italian validation of ALSAQ

    Article • Neurological Research, February 2010, Taylor & Francis

    Prof Corrado Angelini

  302. Overexpression of microRNA-206 in the skeletal muscle from myotonic dystrophy type 1 patients

    Article • Journal of Translational Medicine, January 2010, Springer Science + Business Media

    Prof Corrado Angelini

  303. Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy

    Article • Neuromuscular Disorders, January 2010, Elsevier

    Prof Corrado Angelini

  304. TDP-43 in skeletal muscle of patients affected with amyotrophic lateral sclerosis

    Article • Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders, January 2010, Taylor & Francis

    Prof Corrado Angelini

  305. Cardiomyopathy in a patient with limb-girdle muscular dystrophy type 2D: Pathomorphological aspects

    Article • Forensic Science International Supplement Series, December 2009, Elsevier

    Prof Corrado Angelini

  306. Natural history of upper motor neuron-dominant ALS

    Article • Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders, November 2009, Taylor & Francis

    Prof Corrado Angelini

  307. G.P.15.08 High genetic variability in European population: The FSHD complex puzzle

    Article • Neuromuscular Disorders, September 2009, Elsevier

    Prof Corrado Angelini

  308. G.P.4.07 Skeletal muscle regeneration in amyotrophic lateral sclerosis

    Article • Neuromuscular Disorders, September 2009, Elsevier

    Prof Corrado Angelini

  309. G.P.15.09 Unexpected high percentage of asymptomatic subjects carrying the FSHD molecular defect: Which factors contribute to the disease mechanism?

    Article • Neuromuscular Disorders, September 2009, Elsevier

    Prof Corrado Angelini

  310. Epidemiology of ALS in Padova district, Italy, from 1992 to 2005

    Article • European Journal of Neurology, August 2009, Wiley

    Prof Corrado Angelini

  311. Publisher’s Note: Exclusive initial-state-radiation production of theDD¯,

    Article • Physical Review D, July 2009, American Physical Society (APS)

    Prof Corrado Angelini

  312. Reliability of the North Star Ambulatory Assessment in a multicentric setting

    Article • Neuromuscular Disorders, July 2009, Elsevier

    Prof Corrado Angelini

  313. Carnitine deficiency

    Article • OR Nurse, July 2009, Wolters Kluwer Health

    Prof Corrado Angelini

  314. TARDBP(TDP-43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations

    Article • European Journal of Neurology, June 2009, Wiley

    Prof Corrado Angelini

  315. Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample

    Article • Clinical Genetics, June 2009, Wiley

    Prof Corrado Angelini

  316. Progress in enzyme replacement therapy in glycogen storage disease type II

    Article • Therapeutic Advances in Neurological Disorders, April 2009, SAGE Publications

    Prof Corrado Angelini

  317. Frequency of LGMD gene mutations in Italian patients with distinct clinical phenotypes

    Article • Neurology, April 2009, Wolters Kluwer Health

    Prof Corrado Angelini

  318. Different atrophy-hypertrophy transcription pathways in muscles affected by severe and mild spinal muscular atrophy

    Article • BMC Medicine, April 2009, Springer Science + Business Media

    Prof Corrado Angelini

  319. Sarcolemmal Neuronal Nitric Oxide Synthase Defect in Limb-Girdle Muscular Dystrophy: An Adverse Modulating Factor in the Disease Course?

    Article • Journal of Neuropathology & Experimental Neurology, April 2009, Oxford University Press (OUP)

    Prof Corrado Angelini

  320. Two novel cosegregating mutations in tRNAMet and COX III, in a patient with exercise intolerance and autoimmune polyendocrinopathy

    Article • Mitochondrion, April 2009, Elsevier

    Prof Corrado Angelini

  321. Comparative transcriptional and biochemical studies in muscle of myotonic dystrophies (DM1 and DM2)

    Article • Neurological Sciences, March 2009, Springer Science + Business Media

    Prof Corrado Angelini

  322. Emotional Lability in MND: Relationship to cognition and psychopathology and impact on caregivers

    Article • Journal of the Neurological Sciences, March 2009, Elsevier

    Prof Corrado Angelini

  323. Risk of arrhythmia in type I myotonic dystrophy: the role of clinical and genetic variables

    Article • Journal of Neurology Neurosurgery & Psychiatry, February 2009, BMJ

    Prof Corrado Angelini

  324. Muscle histopathology in myasthenia gravis with antibodies against MuSK and AChR

    Article • Neuropathology and Applied Neurobiology, February 2009, Wiley

    Prof Corrado Angelini

  325. Transcriptional behavior of DMD gene duplications in DMD/BMD males

    Article • Human Mutation, February 2009, Wiley

    Prof Corrado Angelini

  326. Chapter 31 Muscular dystrophy

    Article • January 2009, Elsevier

    Prof Corrado Angelini

  327. Standards of Care for Duchenne Muscular Dystrophy: Brief Treat-NMD Recommendations

    Article • January 2009, Springer Science + Business Media

    Prof Corrado Angelini

  328. TDP-43 in skeletal muscle of patients affected with amyotrophic lateral sclerosis

    Article • Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders, January 2009, Taylor & Francis

    Prof Corrado Angelini

  329. Recent advances and current clinical perspectives in the diagnosis and treatment of glycogenosis type II

    Article • Neurology, December 2008, Wolters Kluwer Health

    Prof Corrado Angelini

  330. How to tackle the diagnosis of limb-girdle muscular dystrophy 2A

    Article • European Journal of Human Genetics, October 2008, Springer Science + Business Media

    Prof Corrado Angelini

  331. Sphingomonas paucimobilis associated with localised calf myositis

    Article • Journal of Neurology Neurosurgery & Psychiatry, October 2008, BMJ

    Prof Corrado Angelini

  332. D.P.1.02 A robust tool to quantify disability in patients affected by facioscapulohumeral muscular dystrophy

    Article • Neuromuscular Disorders, October 2008, Elsevier

    Prof Corrado Angelini

  333. D.P.4.07 In vitro study of DM1 primary myotubes

    Article • Neuromuscular Disorders, October 2008, Elsevier

    Prof Corrado Angelini

  334. D.P.1.04 Size and number of D4Z4 alleles play a role in FSHD phenotype

    Article • Neuromuscular Disorders, October 2008, Elsevier

    Prof Corrado Angelini

  335. Preferential central nucleation of type 2 myofibers is an invariable feature of myotonic dystrophy type 2

    Article • Muscle & Nerve, September 2008, Wiley

    Prof Corrado Angelini

  336. A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function

    Article • Human Molecular Genetics, August 2008, Oxford University Press (OUP)

    Prof Corrado Angelini

  337. Inhibition of Proteasome Activity Promotes the Correct Localization of Disease-Causing α-Sarcoglycan Mutants in HEK-293 Cells Constitutively Expressing β-, γ-, and δ-Sarcoglycan

    Article • American Journal Of Pathology, July 2008, Elsevier

    Prof Corrado Angelini

  338. S9.7 Dominant optic atrophy caused by a novel OPA1 mutation: Disruption of the mitochondrial network with preserved bioenergetics

    Article • Biochimica et Biophysica Acta (BBA) - Bioenergetics, July 2008, Elsevier

    Prof Corrado Angelini

  339. The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patients

    Article • Journal of Medical Genetics, June 2008, BMJ

    Prof Corrado Angelini

  340. Erratum: Thee+e−→2

    Article • Physical Review D, June 2008, American Physical Society (APS)

    Prof Corrado Angelini

  341. Publisher’s Note: Erratum: Measurement of Branching Fractions and Mass Spectra ofB→Kππ

    Article • Physical Review Letters, May 2008, American Physical Society (APS)

    Prof Corrado Angelini

  342. Erratum: Measurement of Branching Fractions and Mass Spectra ofB→Kππγ

    Article • Physical Review Letters, May 2008, American Physical Society (APS)

    Prof Corrado Angelini

  343. Clinical and genetic characterization of Chanarin–Dorfman syndrome

    Article • Biochemical and Biophysical Research Communications, May 2008, Elsevier

    Prof Corrado Angelini

  344. Amyotrophic Lateral Sclerosis With Ragged-Red Fibers

    Article • Archives of Neurology, March 2008, American Medical Association (AMA)

    Prof Corrado Angelini

  345. Cardioembolic stroke in Danon disease

    Article • Clinical Genetics, February 2008, Wiley

    Prof Corrado Angelini

  346. Molecular pathology and enzyme processing in various phenotypes of acid maltase deficiency

    Article • Neurology, February 2008, Wolters Kluwer Health

    Prof Corrado Angelini

  347. Publisher’s Note: Search for the rare charmless hadronic decayB+→a0<...

    Article • Physical Review D, February 2008, American Physical Society (APS)

    Prof Corrado Angelini

  348. Publisher’s Note: Search for the rare charmless hadronic decayB+→a0<...

    Article • Physical Review D, January 2008, American Physical Society (APS)

    Prof Corrado Angelini

  349. Muscle histopathology in upper motor neuron-dominant amyotrophic lateral sclerosis

    Article • Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders, January 2008, Taylor & Francis

    Prof Corrado Angelini

  350. Spinal and bulbar muscular atrophy: Skeletal muscle pathology in male patients and heterozygous females

    Article • Journal of the Neurological Sciences, January 2008, Elsevier

    Prof Corrado Angelini

  351. Nutritional Recommendations for Patients with Glycogen Storage Disease Type II

    Article • Clinical Therapeutics, January 2008, Elsevier

    Prof Corrado Angelini

  352. Dysferlinopathies

    Article • Neurology India, January 2008, Medknow

    Prof Corrado Angelini

  353. Biochemical and ultrastructural evidence of endoplasmic reticulum stress in LGMD2I

    Article • Virchows Archiv, October 2007, Springer Science + Business Media

    Prof Corrado Angelini

  354. Correlations between clinical severity, genotype and muscle pathology in limb girdle muscular dystrophy type 2A

    Article • Journal of Medical Genetics, October 2007, BMJ

    Prof Corrado Angelini

  355. Detection of an unstable non-coding tandem repeat in the ZNF291 gene

    Article • Molecular and Cellular Probes, October 2007, Elsevier

    Prof Corrado Angelini

  356. M.P.5.06 Protocol for enzyme replacement therapy in late-onset glycogenosis type II (GSDII)

    Article • Neuromuscular Disorders, October 2007, Elsevier

    Prof Corrado Angelini

  357. G.P.14.15 Brain involvement in myotonic dystrophy type 2

    Article • Neuromuscular Disorders, October 2007, Elsevier

    Prof Corrado Angelini

  358. G.P.15.16 Importance of self-report in pediatric quality of life assessment: Experience with the SOLE questionnaire in children with neuromuscular disorders

    Article • Neuromuscular Disorders, October 2007, Elsevier

    Prof Corrado Angelini

  359. G.P.3.07 Intronic conserved non-coding sequences (CNSs) as a tool to detect non-coding RNAs (ncRNAs) and putative regulatory motifs within the dystrophin gene

    Article • Neuromuscular Disorders, October 2007, Elsevier

    Prof Corrado Angelini

  360. G.P.8.06 Limb-girdle muscular dystrophies: DNA test following protein test or not?

    Article • Neuromuscular Disorders, October 2007, Elsevier

    Prof Corrado Angelini

  361. M.P.4.12 Molecular analysis of the ABHD5 gene in Italian patients with multisystem triglyceride storage disease (Chanarin-Dorfman syndrome)

    Article • Neuromuscular Disorders, October 2007, Elsevier

    Prof Corrado Angelini

  362. G.P.7.02 Multicenter study on occurrence of auditory impairment in facioscapulohumeral muscular dystrophy

    Article • Neuromuscular Disorders, October 2007, Elsevier

    Prof Corrado Angelini

  363. G.P.15.15 The SOLE questionnaire: Development and validation of a new instrument for measuring quality of life in children with neuromuscular disorders

    Article • Neuromuscular Disorders, October 2007, Elsevier

    Prof Corrado Angelini

  364. G.P.4.07 Relation between LGMD2B progression and physical activity

    Article • Neuromuscular Disorders, October 2007, Elsevier

    Prof Corrado Angelini

  365. Association Between Human Polymorphic DNA Markers and Hypoxia Adaptation in Sherpa Detected by a Preliminary Genome Scan

    Article • Annals of Human Genetics, September 2007, Wiley

    Prof Corrado Angelini

  366. In common dystrophy, the hearing was impaired

    Article • Audiology and Neurotology, August 2007, Karger Publishers

    Prof Corrado Angelini

  367. Late-onset GSDII with novel GAA gene mutation

    Article • Clinical Genetics, April 2007, Wiley

    Prof Corrado Angelini

  368. Myelo-optico-neuropathy in copper deficiency occurring after partial gastrectomy

    Article • Deutsche Zeitschrift für Nervenheilkunde, April 2007, Springer Science + Business Media

    Prof Corrado Angelini

  369. Activities of mitochondrial complexes correlate with nNOS amount in muscle from ALS patients

    Article • Neuropathology and Applied Neurobiology, April 2007, Wiley

    Prof Corrado Angelini

  370. MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy

    Article • Neuromuscular Disorders, April 2007, Elsevier

    Prof Corrado Angelini

  371. Risk Prediction for Clinical Phenotype in Myotonic Dystrophy Type 1: Data from 2,650 Patients

    Article • Genetic Testing, April 2007, Mary Ann Liebert Inc

    Prof Corrado Angelini

  372. Childhood dermatomyositis associated with intracranial tumor and liver cysts

    Article • European Journal of Paediatric Neurology, March 2007, Elsevier

    Prof Corrado Angelini

  373. The role of corticosteroids in muscular dystrophy: A critical appraisal

    Article • Muscle & Nerve, January 2007, Wiley

    Prof Corrado Angelini

  374. Disorders of lipid metabolism

    Article • January 2007, Elsevier

    Prof Corrado Angelini

  375. Erratum: Dalitz-plot analysis of the decaysB±→K±

    Article • Physical Review D, November 2006, American Physical Society (APS)

    Prof Corrado Angelini

  376. Expression profiling characterization of laminin α-2 positive MDC

    Article • Biochemical and Biophysical Research Communications, November 2006, Elsevier

    Prof Corrado Angelini

  377. High plasma creatine kinase: review of the literature and proposal for a diagnostic algorithm

    Article • Neurological Sciences, November 2006, Springer Science + Business Media

    Prof Corrado Angelini

  378. Muscle protein analysis in the detection of heterozygotes for recessive limb girdle muscular dystrophy type 2B and 2E

    Article • Neuromuscular Disorders, November 2006, Elsevier

    Prof Corrado Angelini

  379. Task force guidelines handbook: EFNS guidelines on diagnosis and management of fatty acid mitochondrial disorders

    Article • European Journal of Neurology, September 2006, Wiley

    Prof Corrado Angelini

  380. A truncation in the RYR1 gene associated with central core lesions in skeletal muscle fibres

    Article • Journal of Medical Genetics, August 2006, BMJ

    Prof Corrado Angelini

  381. Exploring mental status in Friedreich's ataxia: a combined neuropsychological, behavioral and neuroimaging study

    Article • European Journal of Neurology, August 2006, Wiley

    Prof Corrado Angelini

  382. Screening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations

    Article • Journal of Medical Genetics, July 2006, BMJ

    Prof Corrado Angelini

  383. Erratum: Determination of|Vub

    Article • Physical Review Letters, July 2006, American Physical Society (APS)

    Prof Corrado Angelini

  384. McArdle disease: the mutation spectrum ofPYGMin a large Italian cohort

    Article • Human Mutation, July 2006, Wiley

    Prof Corrado Angelini

  385. The glucocorticoid receptor N363S polymorphism and steroid response in Duchenne dystrophy

    Article • Journal of Neurology Neurosurgery & Psychiatry, June 2006, BMJ

    Prof Corrado Angelini

  386. Gene Expression Analysis in Myotonic Dystrophy: Indications for a Common Molecular Pathogenic Pathway in DM1 and DM2

    Article • Gene Expression, June 2006, Cognizant Communication Corporation

    Prof Corrado Angelini

  387. Generalized Lysosome-Associated Membrane Protein-2 Defect Explains Multisystem Clinical Involvement and Allows Leukocyte Diagnostic Screening in Danon Disease

    Article • American Journal Of Pathology, April 2006, Elsevier

    Prof Corrado Angelini

  388. Coordinated and reversible reduction of enzymes involved in terminal oxidative metabolism in skeletal muscle mitochondria from a riboflavin-responsive, multiple acyl-CoA dehydrogenase deficiency patient

    Article • Electrophoresis, March 2006, Wiley

    Prof Corrado Angelini

  389. Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5′ mutation hot spot of the dystrophin gene

    Article • Gene, March 2006, Elsevier

    Prof Corrado Angelini

  390. Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb–MyoD pathways in muscle regeneration

    Article • Brain, February 2006, Oxford University Press (OUP)

    Prof Corrado Angelini

  391. Human skeletal muscle atrophy in amyotrophic lateral sclerosis reveals a reduction in Akt and an increase in atrogin-1

    Article • The FASEB Journal, January 2006, Federation of American Societies For Experimental Biology (FASEB)

    Prof Corrado Angelini

  392. Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

    Article • Human Mutation, January 2006, Wiley

    Prof Corrado Angelini

  393. A pilot trial with clenbuterol in amyotrophic lateral sclerosis

    Article • Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders, January 2006, Taylor & Francis

    Prof Corrado Angelini

  394. Facioscapulohumeral Muscular Dystrophy and Occurrence of Heart Arrhythmia

    Article • European Neurology, January 2006, Karger Publishers

    Prof Corrado Angelini

  395. Clinical and Molecular Characterization of Patients With Limb-Girdle Muscular Dystrophy Type 2I

    Article • Archives of Neurology, December 2005, American Medical Association (AMA)

    Prof Corrado Angelini

  396. Co-segregation of LMNA and PMP22 gene mutations in the same family

    Article • Neuromuscular Disorders, December 2005, Elsevier

    Prof Corrado Angelini

  397. Decreased expression of DMPK: correlation with CTG repeat expansion and fibre type composition in myotonic dystrophy type 1

    Article • Neurological Sciences, October 2005, Springer Science + Business Media

    Prof Corrado Angelini

  398. Decorin and biglycan expression is differentially altered in several muscular dystrophies

    Article • Brain, September 2005, Oxford University Press (OUP)

    Prof Corrado Angelini

  399. Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes

    Article • Journal of Medical Genetics, September 2005, BMJ

    Prof Corrado Angelini

  400. Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: A CoQ10-responsive condition

    Article • Neurology, August 2005, Wolters Kluwer Health

    Prof Corrado Angelini

  401. Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy

    Article • Journal of Neurology Neurosurgery & Psychiatry, July 2005, BMJ

    Prof Corrado Angelini

  402. The frequency of limb girdle muscular dystrophy 2A in northeastern Italy

    Article • Neuromuscular Disorders, March 2005, Elsevier

    Prof Corrado Angelini

  403. Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures

    Article • Neuromuscular Disorders, February 2005, Elsevier

    Prof Corrado Angelini

  404. Ultrastructural changes in dysferlinopathy support defective membrane repair mechanism

    Article • Journal of Clinical Pathology, February 2005, BMJ

    Prof Corrado Angelini

  405. A novel out-of-frame mutation in the neurofilament light chain gene ( NEFL) does not result in Charcot-Marie-Tooth disease type 2E

    Article • Neurogenetics, January 2005, Springer Science + Business Media

    Prof Corrado Angelini

  406. The role of botulinum toxin injection and upper esophageal sphincter myotomy in treating oropharyngeal dysphagia

    Article • Journal of Gastrointestinal Surgery, December 2004, Elsevier

    Prof Corrado Angelini

  407. Correlating phenotype and genotype in the periodic paralyses

    Article • Neurology, November 2004, Wolters Kluwer Health

    Prof Corrado Angelini

  408. Publisher's Note: Search for the Rare Leptonic DecayB+→μ+

    Article • Physical Review Letters, October 2004, American Physical Society (APS)

    Prof Corrado Angelini

  409. Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy

    Article • European Journal of Neurology, October 2004, Wiley

    Prof Corrado Angelini

  410. LAMA2loss-of-function mutation in a girl with a mild congenital muscular dystrophy

    Article • Neurology, September 2004, Wolters Kluwer Health

    Prof Corrado Angelini

  411. Large-scale disruption of microtubule pathways in morphologically normal human spastin muscle

    Article • Neurology, April 2004, Wolters Kluwer Health

    Prof Corrado Angelini

  412. Molecular and muscle pathology in a series of caveolinopathy patients

    Article • Human Mutation, January 2004, Wiley

    Prof Corrado Angelini

  413. Molecular diagnosis in LGMD2A: Mutation analysis or protein testing?

    Article • Human Mutation, January 2004, Wiley

    Prof Corrado Angelini

  414. Motor function-muscle strength relationship in spinal muscular atrophy

    Article • Muscle & Nerve, January 2004, Wiley

    Prof Corrado Angelini

  415. Decreased Fatty Acid β-Oxidation in Riboflavin-Responsive, Multiple Acylcoenzyme A Dehydrogenase-Deficient Patients Is Associated with an Increase in Uncoupling Protein-3

    Article • The Journal of Clinical Endocrinology & Metabolism, December 2003, Endocrine Society

    Prof Corrado Angelini

  416. Loss of Calpain-3 Autocatalytic Activity in LGMD2A Patients with Normal Protein Expression

    Article • American Journal Of Pathology, November 2003, Elsevier

    Prof Corrado Angelini

  417. two families with spastic paraplegia are described

    Article • European Journal of Human Genetics, August 2003, Springer Science + Business Media

    Prof Corrado Angelini

  418. Role of Gabapentin in Spinal Muscular Atrophy

    Article • Journal of Child Neurology, August 2003, SAGE Publications

    Prof Corrado Angelini

  419. Acetylcholinesterase activity is affected by stress conditions in Paracentrotus lividus coelomocytes

    Article • Marine Biology, July 2003, Springer Science + Business Media

    Prof Corrado Angelini

  420. Novel sarcoglycan gene mutations in a large cohort of Italian patients

    Article • Journal of Medical Genetics, May 2003, BMJ

    Prof Corrado Angelini

  421. LGMD2E patients risk developing dilated cardiomyopathy

    Article • Neuromuscular Disorders, May 2003, Elsevier

    Prof Corrado Angelini

  422. Memory deficits and retrieval processes in ALS1

    Article • European Journal of Neurology, May 2003, Wiley

    Prof Corrado Angelini

  423. Cerebellar ataxia and coenzyme Q10 deficiency

    Article • Neurology, April 2003, Wolters Kluwer Health

    Prof Corrado Angelini, Prof Massimiliano Valeriani

  424. Phenotype modulators in myophosphorylase deficiency

    Article • Annals of Neurology, March 2003, Wiley

    Prof Corrado Angelini

  425. Clinical and molecular study in congenital muscular dystrophy with partial laminin ?2 (LAMA2) deficiency

    Article • Human Mutation, January 2003, Wiley

    Prof Corrado Angelini

  426. Neuromuscular Diseases, Expert Clinicians Views

    Article • Neuromuscular Disorders, January 2003, Elsevier

    Prof Corrado Angelini

  427. Gene expression profiling in dysferlinopathies using a dedicated muscle microarray

    Article • Human Molecular Genetics, December 2002, Oxford University Press (OUP)

    Prof Corrado Angelini

  428. Muscle pathology in dysferlin deficiency

    Article • Neuropathology and Applied Neurobiology, December 2002, Wiley

    Prof Corrado Angelini

  429. Investigating the Mechanism of Chromosomal Deletion: Characterization of 39 Deletion Breakpoints in Introns 47 and 48 of the Human Dystrophin Gene

    Article • Genomics, November 2002, Elsevier

    Prof Corrado Angelini

  430. Investigating the Mechanism of Chromosomal Deletion: Characterization of 39 Deletion Breakpoints in Introns 47 and 48 of the Human Dystrophin Gene

    Article • Genomics, November 2002, Elsevier

    Prof Corrado Angelini

  431. Publisher’s Note: Measurement of theB0Lifetime with Partially Reconstructed

    Article • Physical Review Letters, September 2002, American Physical Society (APS)

    Prof Corrado Angelini

  432. Integrin α7β1 in Muscular Dystrophy/Myopathy of Unknown Etiology

    Article • American Journal Of Pathology, June 2002, Elsevier

    Prof Corrado Angelini

  433. Defective assembly of sarcoglycan complex in patients with β-sarcoglycan gene mutations. Study of aneural and innervated cultured myotubes

    Article • Neuropathology and Applied Neurobiology, June 2002, Wiley

    Prof Corrado Angelini

  434. Detection of HTLV-I tax-rex and pol Gene Sequences of Thymus Gland in a Large Group of Patients With Myasthenia Gravis

    Article • JAIDS Journal of Acquired Immune Deficiency Syndromes, March 2002, Wolters Kluwer Health

    Prof Corrado Angelini

  435. Epidemiology of myotonic dystrophy in Italy: re-apprisal after genetic diagnosis

    Article • Clinical Genetics, January 2002, Wiley

    Prof Corrado Angelini

  436. Validation of internationally agreed criteria to diagnose Amyotrophic Lateral Sclerosis.

    Article • Neuroepidemiology, January 2002, Karger Publishers

    Prof Corrado Angelini

  437. Changes in the ultrastructure and glycoproteins of the cyst wall of Colpoda cucullus during resting encystment

    Article • European Journal of Protistology, January 2002, Elsevier

    Prof Corrado Angelini

  438. Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy

    Article • Neurology, July 2001, Wolters Kluwer Health

    Prof Corrado Angelini

  439. A new mutation in a family with cold-aggravated myotonia disrupts Na+ channel inactivation

    Article • Neurology, April 2001, Wolters Kluwer Health

    Prof Corrado Angelini

  440. Calpain-3 and dysferlin protein screening in patients with limb-girdle dystrophy and myopathy

    Article • Neurology, March 2001, Wolters Kluwer Health

    Prof Corrado Angelini

  441. Caspase 3 Expression Correlates With Skeletal Muscle Apoptosis in Duchenne and Facioscapulo Human Muscular Dystrophy. A Potential Target for Pharmacological Treatment?

    Article • Journal of Neuropathology & Experimental Neurology, March 2001, Oxford University Press (OUP)

    Prof Corrado Angelini

  442. Heart transplantation in patients with inherited myopathies associated with end-stage cardiomyopathy: molecular and biochemical defects on cardiac and skeletal muscle

    Article • Transplantation Proceedings, February 2001, Elsevier

    Prof Corrado Angelini

  443. Validity of hospital discharge diagnoses for the assessment of the prevalence and incidence of amyotrophic lateral sclerosis

    Article • Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders, January 2001, Taylor & Francis

    Prof Corrado Angelini

  444. New therapies in muscular dystrophies

    Article • Neurological Sciences, December 2000, Springer Science + Business Media

    Prof Corrado Angelini

  445. Neuromuscular damage after hyperthermic isolated limb perfusion in patients with melanoma or sarcoma treated with chemotherapeutic agents

    Article • Cancer Chemotherapy and Pharmacology, December 2000, Springer Science + Business Media

    Prof Corrado Angelini

  446. Correlation of clinical function and muscle CT scan images in limb-girdle muscular dystrophy

    Article • Neurological Sciences, December 2000, Springer Science + Business Media

    Prof Corrado Angelini

  447. A novel laminin  2 isoform in severe laminin  2 deficient congenital muscular dystrophy

    Article • Neurology, October 2000, Wolters Kluwer Health

    Prof Corrado Angelini

  448. Hereditary spastic paraplegia associated with peripheral neuropathy: a distinct clinical and genetic entity

    Article • Neuromuscular Disorders, October 2000, Elsevier

    Prof Corrado Angelini

  449. A multicenter, double‐blind, randomized trial of deflazacort versus prednisone in Duchenne muscular dystrophy

    Article • Muscle & Nerve, September 2000, Wiley

    Prof Corrado Angelini

  450. Acute Quadriplegic Myopathy in a 17-Month-Old Boy

    Article • Journal of Child Neurology, January 2000, SAGE Publications

    Prof Corrado Angelini

  451. A multicenter, double-blind, randomized trial of deflazacort versus prednisone in Duchenne muscular dystrophy

    Article • Muscle & Nerve, January 2000, Wiley

    Prof Corrado Angelini

  452. Private ?- and ?-sarcoglycan gene mutations: Evidence of a founder effect in Northern Italy

    Article • Human Mutation, January 2000, Wiley

    Prof Corrado Angelini

  453. Riboflavin therapy

    Article • Brain, December 1999, Oxford University Press (OUP)

    Prof Corrado Angelini

  454. A Stop-Codon Mutation in the Human mtDNA Cytochrome c Oxidase I Gene Disrupts the Functional Structure of Complex IV

    Article • The American Journal of Human Genetics, September 1999, Elsevier

    Prof Corrado Angelini

  455. Cognitive impairment and (CTG)n expansion in myotonic dystrophy patients

    Article • Biological Psychiatry, August 1999, Elsevier

    Prof Corrado Angelini

  456. Could Utrophin Rescue the Myocardium of Patients with Dystrophin Gene Mutations?

    Article • Journal of Molecular and Cellular Cardiology, August 1999, Elsevier

    Prof Corrado Angelini

  457. Infantile lipid storage myopathy with nocturnal hypoventilation shows abnormal low-affinity muscle carnitine uptake in vitro

    Article • Neuromuscular Disorders, July 1999, Elsevier

    Prof Corrado Angelini

  458. Prenatal diagnosis in a family affected with β-sarcoglycan muscular dystrophy

    Article • Neuromuscular Disorders, July 1999, Elsevier

    Prof Corrado Angelini

  459. Myotonic dystrophy: tissue-specific effect of somatic CTG expansions on allele-specific DMAHP/SIX5 expression

    Article • Human Molecular Genetics, June 1999, Oxford University Press (OUP)

    Prof Corrado Angelini

  460. Reduction of the DM-associated homeo domain protein (DMAHP) mRNA in different brain areas of myotonic dystrophy patients

    Article • Neuromuscular Disorders, June 1999, Elsevier

    Prof Corrado Angelini

  461. Regeneration in sarcoglycanopathies: expression studies of sarcoglycans and other muscle proteins

    Article • Journal of the Neurological Sciences, June 1999, Elsevier

    Prof Corrado Angelini

  462. Heart involvement in muscular dystrophies due to sarcoglycan gene mutations

    Article • Muscle & Nerve, April 1999, Wiley

    Prof Corrado Angelini

  463. Clinical and neuroimaging study of central nervous system in congenital myotonic dystrophy

    Article • Deutsche Zeitschrift für Nervenheilkunde, March 1999, Springer Science + Business Media

    Prof Corrado Angelini

  464. Calpain III mutation analysis of a heterogeneous limb-girdle muscular dystrophy population

    Article • Neurology, March 1999, Wolters Kluwer Health

    Prof Corrado Angelini

  465. The clinical spectrum of sarcoglycanopathies

    Article • Neurology, January 1999, Wolters Kluwer Health

    Prof Corrado Angelini

  466. Cardiac transplantation in a Duchenne muscular dystrophy carrier

    Article • Neuromuscular Disorders, December 1998, Elsevier

    Prof Corrado Angelini

  467. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

    Article • Nature Genetics, September 1998, Springer Science + Business Media

    Prof Corrado Angelini

  468. Steroids in muscular dystrophy: where do we stand?

    Article • Neuromuscular Disorders, August 1998, Elsevier

    Prof Corrado Angelini

  469. Laminin  2 muscular dystrophy: Genotype/phenotype studies of 22 patients

    Article • Neurology, July 1998, Wolters Kluwer Health

    Prof Corrado Angelini

  470. Homozygous ?-sarcoglycan mutation in two siblings: One asymptomatic and one steroid-responsive mild limb-girdle muscular dystrophy patient

    Article • Muscle & Nerve, June 1998, Wiley

    Prof Corrado Angelini

  471. Radiological evidence of subclinical dysphagia in motor neuron disease

    Article • Deutsche Zeitschrift für Nervenheilkunde, April 1998, Springer Science + Business Media

    Prof Corrado Angelini

  472. Positive correlation of CTG expansion and pharyngoesophageal alterations in myotonic dystrophy patients

    Article • Neurological Sciences, April 1998, Springer Science + Business Media

    Prof Corrado Angelini

  473. Congenital Muscular Dystrophy with Partial Merosin Deficiency and Late Onset Epilepsy

    Article • European Neurology, January 1998, Karger Publishers

    Prof Corrado Angelini

  474. Mutations of the same sequence of the myelin P0 gene causing two different phenotypes

    Article • Human Mutation, January 1998, Wiley

    Prof Corrado Angelini

  475. Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations.

    Article • Journal of Medical Genetics, December 1997, BMJ

    Prof Corrado Angelini

  476. Increased aldosterone levels in acute mountain sickness at Capanna Regina Margherita

    Article • Wilderness and Environmental Medicine, November 1997, Elsevier

    Prof Corrado Angelini

  477. Long-term cyclosporine treatment in a group of severe myasthenia gravis patients

    Article • Deutsche Zeitschrift für Nervenheilkunde, September 1997, Springer Science + Business Media

    Prof Corrado Angelini

  478. Changes in skeletal muscle histology and metabolism in patients undergoing exercise deconditioning: Effect of propionyl-L-carnitine

    Article • Muscle & Nerve, September 1997, Wiley

    Prof Corrado Angelini

  479. RNA metabolism in myotonic dystrophy: patient muscle shows decreased insulin receptor RNA and protein consistent with abnormal insulin resistance.

    Article • Journal of Clinical Investigation, April 1997, American Society for Clinical Investigation

    Prof Corrado Angelini

  480. Mutations in the Sarcoglycan Genes in Patients with Myopathy

    Article • The New England Journal of Medicine and Surgery and the Collateral Branches of Science, February 1997, New England Journal of Medicine (NEJM/MMS)

    Prof Corrado Angelini

  481. Genotype-phenotype correlations of DHP receptor α1-subunit gene mutations causing hypokalemic periodic paralysis

    Article • Neuromuscular Disorders, January 1997, Elsevier

    Prof Corrado Angelini

  482. Novel mutations and polymorphisms in the human dystrophin gene detected by double-strand conformation analysis

    Article • Human Mutation, January 1997, Wiley

    Prof Corrado Angelini

  483. Novel mutations and polymorphisms in the human dystrophin gene detected by double‐strand conformation analysis

    Article • Human Mutation, January 1997, Wiley

    Prof Corrado Angelini

  484. Myocardial Involvement Is Very Frequent Among Patients Affected With Subclinical Becker's Muscular Dystrophy

    Article • Circulation, December 1996, Wolters Kluwer Health

    Prof Corrado Angelini

  485. Prediction of myotonic dystrophy clinical severity based on the number of intragenic [CTG]n trinucleotide repeats

    Article • American Journal of Medical Genetics, November 1996, Wiley

    Prof Corrado Angelini

  486. Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy

    Article • Human Molecular Genetics, November 1996, Oxford University Press (OUP)

    Prof Corrado Angelini

  487. Myotonia and the muscle chloride channel: Dominant mutations show variable penetrance and founder effect

    Article • Neurology, October 1996, Wolters Kluwer Health

    Prof Corrado Angelini

  488. Cardiac and respiratory involvement in advanced stage Duchenne muscular dystrophy

    Article • Neuromuscular Disorders, October 1996, Elsevier

    Prof Corrado Angelini

  489. Esophageal motor function in patients with myotonic dystrophy

    Article • Digestive Diseases and Sciences, October 1996, Springer Science + Business Media

    Prof Corrado Angelini

  490. Prognostic factors in mild dystrophinopathies

    Article • Journal of the Neurological Sciences, October 1996, Elsevier

    Prof Corrado Angelini

  491. Duchenne phenotype with in-frame deletion removing major portion of dystrophin rod: Threshold effect for deletion size?

    Article • Muscle & Nerve, September 1996, Wiley

    Prof Corrado Angelini

  492. α-Sarcoglycan (adhalin) deficiency: complete deficiency patients are 5% of childhood-onset dystrophin-normal muscular dystrophy and most partial deficiency patients do not have gene mutations

    Article • Journal of the Neurological Sciences, September 1996, Elsevier

    Prof Corrado Angelini

  493. Discordant clinical outcome in type III spinal muscular atrophy sibships showing the same deletion pattern

    Article • Neuromuscular Disorders, August 1996, Elsevier

    Prof Corrado Angelini

  494. Molecular characterization of myophosphorylase deficiency in a group of patients from Northern Italy

    Article • Journal of the Neurological Sciences, April 1996, Elsevier

    Prof Corrado Angelini

  495. Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy

    Article • Human Genetics, March 1996, Springer Science + Business Media

    Prof Corrado Angelini

  496. Residual muscle cytochrome c oxidase activity accounts for submaximal exercise lactate threshold in chronic progressive external ophthalmoplegia

    Article • Muscle & Nerve, March 1996, Wiley

    Prof Corrado Angelini

  497. X‐inactivation patterns in female Leber's hereditary optic neuropathy patients do not support a strong X‐linked determinant

    Article • American Journal of Medical Genetics, February 1996, Wiley

    Prof Corrado Angelini

  498. X-inactivation patterns in female Leber's hereditary optic neuropathy patients do not support a strong X-linked determinant

    Article • American Journal of Medical Genetics, February 1996, Wiley

    Prof Corrado Angelini

  499. A Point Mutation in the 5' Splice Site of the Dystrophin Gene First Intron Responsible for X-Linked Dilated Cardiomyopathy

    Article • Human Molecular Genetics, January 1996, Oxford University Press (OUP)

    Prof Corrado Angelini, Dr. Luisa Mestroni

  500. Skeletal muscle sarcoplasmic reticulum phenotype in myotonic dystrophy

    Article • Neuromuscular Disorders, January 1996, Elsevier

    Prof Corrado Angelini

  501. Clinical and hormonal aspects of male hypogonadism in myotonic dystrophy

    Article • Neurological Sciences, January 1996, Springer Science + Business Media

    Prof Corrado Angelini

  502. Correction: Corrigendum: β-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex

    Article • Nature Genetics, January 1996, Springer Science + Business Media

    Prof Corrado Angelini

  503. Hereditary protein C deficiency associated with riboflavin-responsive lipid storage myopathy

    Article • European Journal of Neurology, January 1996, Wiley

    Prof Corrado Angelini

  504. Motor Neuron Disease in the Padua District of Italy: An Epidemiological Study

    Article • Neuroepidemiology, January 1996, Karger Publishers

    Prof Corrado Angelini

  505. β–sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex

    Article • Nature Genetics, November 1995, Springer Science + Business Media

    Prof Corrado Angelini

  506. Dystrophin-positive fibers in duchenne dystrophy: Origin and correlation to clinical course

    Article • Muscle & Nerve, October 1995, Wiley

    Prof Corrado Angelini

  507. Survival Motor-Neuron Gene Transcript Analysis in Muscles from Spinal Muscular-Atrophy Patients

    Article • Biochemical and Biophysical Research Communications, August 1995, Elsevier

    Prof Corrado Angelini

  508. Audit of care of acute inflammatory polyradiculoneuropathy in Italy

    Article • Pharmacoepidemiology and Drug Safety, May 1995, Wiley

    Prof Corrado Angelini

  509. MtDNA Mutations Associated with Leber′s Hereditary Optic Neuropathy: Studies on Cytoplasmic Hybrid (Cybrid) Cells

    Article • Biochemical and Biophysical Research Communications, May 1995, Elsevier

    Prof Corrado Angelini

  510. Prevalence of unsuspected myopathy in infants presenting for clubfoot surgery

    Article • Pediatric Anesthesia, May 1995, Wiley

    Prof Corrado Angelini

  511. Genetic and biochemical normalization in female carriers of Duchenne muscular dystrophy: Evidence for failure of dystrophin production in dystrophin-competent myonuclei

    Article • Neurology, April 1995, Wolters Kluwer Health

    Prof Corrado Angelini

  512. Neonatal spinal muscular atrophy with diaphragmatic paralysis is unlinked to 5q11.2-q13.

    Article • Journal of Medical Genetics, March 1995, BMJ

    Prof Corrado Angelini

  513. Discordant clinical outcome in myotonic dystrophy relatives showing (CTG)n > 700 repeats

    Article • Neuromuscular Disorders, March 1995, Elsevier

    Prof Corrado Angelini

  514. Prenatal diagnosis in congenital muscular dystrophy

    Article • The Lancet, March 1995, Elsevier

    Prof Corrado Angelini

  515. Postzygotic instability of the myotonic dystrophy p[AGC]n repeat supported by larger expansions in muscle and reduced amplifications in sperm

    Article • Deutsche Zeitschrift für Nervenheilkunde, January 1995, Springer Science + Business Media

    Prof Corrado Angelini

  516. Correlation between cardiac involvement and CTG trinucleotide repeat length in myotonic dystrophy

    Article • Journal of the American College of Cardiology, January 1995, Elsevier

    Prof Corrado Angelini

  517. Myophosphorylase deficiency affects muscle mitochondrial respiration as shown by 31P-MR spectroscopy in a case with associated multifocal encephalopathy

    Article • Journal of the Neurological Sciences, January 1995, Elsevier

    Prof Corrado Angelini

  518. Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation

    Article • Human Molecular Genetics, January 1995, Oxford University Press (OUP)

    Prof Corrado Angelini

  519. Divergence of Central Nervous System Involvement in 2 Italian Sisters with Congenital Muscular Dystrophy: A Clinical and Neuroradiological Follow-Up

    Article • European Neurology, January 1995, Karger Publishers

    Prof Corrado Angelini

  520. Frequency of Duplication at 17p11.2 in Families of Northeast Italy with Charcot-Marie-Tooth Disease Type 1

    Article • Neuroepidemiology, January 1995, Karger Publishers

    Prof Corrado Angelini

  521. Non-radioactive detection of 17p11.2 duplication in CMT1A: a study of 78 patients.

    Article • Journal of Medical Genetics, November 1994, BMJ

    Prof Corrado Angelini

  522. A study on duplications of the dystrophin gene: Evidence of a geographical difference in the distribution of breakpoints by intron

    Article • Human Genetics, July 1994, Springer Science + Business Media

    Prof Corrado Angelini

  523. Clinical-molecular correlation in 104 mild X-linked muscular dystrophy patients: Characterization of sub-clinical phenotypes

    Article • Neuromuscular Disorders, July 1994, Elsevier

    Prof Corrado Angelini

  524. Deflazacort in Duchenne dystrophy: Study of long-term effect

    Article • Muscle & Nerve, July 1994, Wiley

    Prof Corrado Angelini

  525. Preface

    Article • Neuromuscular Disorders, July 1994, Elsevier

    Prof Corrado Angelini

  526. Prevalent cardiac involvement in dystrophin Becker type mutation

    Article • Neuromuscular Disorders, July 1994, Elsevier

    Prof Corrado Angelini

  527. Male Hypogonadism in Myotonic Dystrophy is Related to (Ctg)N Triplet Mutation

    Article • Journal of Endocrinological Investigation, May 1994, Springer Science + Business Media

    Prof Corrado Angelini

  528. Absence of dystrophin and spectrin in regenerating muscle fibers from Becker dystrophy patients

    Article • Journal of the Neurological Sciences, May 1994, Elsevier

    Prof Corrado Angelini

  529. Deflazacort in Duchenne dystrophy: Study of long-term effect

    Article • Muscle & Nerve, April 1994, Wiley

    Prof Corrado Angelini

  530. Occurrence of two different intragenic deletions in two male relatives affected with Duchenne muscular dystrophy

    Article • American Journal of Medical Genetics, March 1994, Wiley

    Prof Corrado Angelini

  531. Single Muscle Fibre Analyses in 2 Brothers with Succinate Dehydrogenase Deficiency

    Article • European Neurology, January 1994, Karger Publishers

    Prof Corrado Angelini

  532. Cardiac involvement in becker muscular dystrophy

    Article • Journal of the American College of Cardiology, December 1993, Elsevier

    Prof Corrado Angelini

  533. Expression of muscle-type phosphorylase in innervated and aneural cultured muscle of patients with myophosphorylase deficiency.

    Article • Journal of Clinical Investigation, October 1993, American Society for Clinical Investigation

    Prof Corrado Angelini

  534. (CTG)n Triplet Mutation and Phenotype Manifestations in Myotonic Dystrophy Patients

    Article • Biochemical Medicine and Metabolic Biology, August 1993, Elsevier

    Prof Corrado Angelini

  535. Multifactorial study of inflammatory myopathies. Report of 29 cases

    Article • Neurological Sciences, February 1993, Springer Science + Business Media

    Prof Corrado Angelini

  536. Dystrophin-positive myotubes in innervated muscle cultures from Duchenne and Becker muscular dystrophy patients

    Article • Neuromuscular Disorders, January 1993, Elsevier

    Prof Corrado Angelini

  537. Reappraisal of the Incidence Rate of Duchenne and Becker Muscular Dystrophies on the Basis of Molecular Diagnosis

    Article • Neuroepidemiology, January 1993, Karger Publishers

    Prof Corrado Angelini

  538. Melas syndrome was diagnosed in two families

    Article • Journal of the Neurological Sciences, December 1992, Elsevier

    Prof Corrado Angelini, Dr Corrado Angelini

  539. Further evidence of a duplication in 17p11.2 in families with recurrence of HMSN Ia (Charcot-Marie-Tooth neuropathy type Ia)

    Article • Human Genetics, November 1992, Springer Science + Business Media

    Prof Corrado Angelini

  540. MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts.

    Article • Proceedings of the National Academy of Sciences, May 1992, Proceedings of the National Academy of Sciences

    Prof Corrado Angelini

  541. Dystrophinopathy in isolated cases of myopathy in females

    Article • Neurology, May 1992, Wolters Kluwer Health

    Prof Corrado Angelini

  542. MELAS: Clinical features, biochemistry, and molecular genetics

    Article • Annals of Neurology, April 1992, Wiley

    Prof Corrado Angelini

  543. Screening for mutations in the muscle promoter region and for exonic deletions in a series of 115 DMD and BMD patients.

    Article • Journal of Medical Genetics, February 1992, BMJ

    Prof Corrado Angelini

  544. Cognitive and psychiatric evaluation of 40 patients with myotonic dystrophy

    Article • Neurological Sciences, February 1992, Springer Science + Business Media

    Prof Corrado Angelini

  545. Clinical and Biochemical Aspects of Carnitine Deficiency and Insufficiency: Transport Defects and Inborn Errors of β-Oxidation

    Article • Critical Reviews in Clinical Laboratory Sciences, January 1992, Taylor & Francis

    Prof Corrado Angelini

  546. Prevalence of dystrophin-positive fibers in 85 duchenne muscular dystrophy patients

    Article • Neuromuscular Disorders, January 1992, Elsevier

    Prof Corrado Angelini

  547. Variability of the expression of muscle mitochondrial damage in ocular mitochondrial myopathy

    Article • Neuromuscular Disorders, January 1992, Elsevier

    Prof Corrado Angelini

  548. Epidemiology of Spinal Muscular Atrophies in a Sample of the Italian Population

    Article • Neuroepidemiology, January 1992, Karger Publishers

    Prof Corrado Angelini

  549. l-Carnitine uptake in differentiating human cultured muscle

    Article • Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, November 1991, Elsevier

    Prof Corrado Angelini

  550. Is the carboxyl-terminus of dystrophin required for membrane association? A novel, severe case of duchenne muscular dystrophy

    Article • Annals of Neurology, October 1991, Wiley

    Prof Corrado Angelini

  551. Muscle carnitine deficiency in patients with severe peripheral vascular disease.

    Article • Circulation, October 1991, Wolters Kluwer Health

    Prof Corrado Angelini

  552. Congenital muscular dystrophy: brain alterations in an unselected series of Western patients.

    Article • Journal of Neurology Neurosurgery & Psychiatry, April 1991, BMJ

    Prof Corrado Angelini

  553. MYOTONIC DYSTROPHY

    Article • Brain, January 1991, Oxford University Press (OUP)

    Prof Corrado Angelini

  554. Ubidecarenone in the treatment of mitochondrial myopathies: a multi-center double-blind trial

    Article • Journal of the Neurological Sciences, December 1990, Elsevier

    Prof Corrado Angelini

  555. A multicentre follow-up study of 1152 patients with myasthenia gravis in Italy

    Article • Deutsche Zeitschrift für Nervenheilkunde, October 1990, Springer Science + Business Media

    Prof Corrado Angelini

  556. 7 Defects of fatty-acid oxidation in muscle

    Article • Baillière s Clinical Endocrinology and Metabolism, September 1990, Elsevier

    Prof Corrado Angelini

  557. Enormous dystrophin in a patient with Becker muscular dystrophy

    Article • Neurology, May 1990, Wolters Kluwer Health

    Prof Corrado Angelini

  558. Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q

    Article • Nature, April 1990, Springer Science + Business Media

    Prof Corrado Angelini

  559. Liver fatty acid-binding protein in two cases of human lipid storage

    Article • Molecular and Cellular Biochemistry, January 1990, Springer Science + Business Media

    Prof Corrado Angelini

  560. Serum Lipids, Lipoprotein Analysis and Apoprotein A-I, A-II and B Levels in Friedreich’s Ataxia

    Article • European Neurology, January 1990, Karger Publishers

    Prof Corrado Angelini

  561. Intellectual Impairment and Cognitive Evoked Potentials in Myotonic Dystrophy

    Article • The Journal of Nervous and Mental Disease, December 1989, Wolters Kluwer Health

    Prof Corrado Angelini

  562. Type 1 fiber abnormalities in skeletal muscle of patients with hypertrophic and dilated cardiomyopathy: Evidence of subclinical myogenic myopathy

    Article • Journal of the American College of Cardiology, November 1989, Elsevier

    Prof Corrado Angelini

  563. CROSS-REACTIVE PROTEIN IN DUCHENNE MUSCLE

    Article • The Lancet, November 1989, Elsevier

    Prof Corrado Angelini

  564. Improved diagnosis of Becker muscular dystrophy by dystrophin testing

    Article • Neurology, August 1989, Wolters Kluwer Health

    Prof Corrado Angelini

  565. Muscle glycerol kinase in Duchenne dystrophy and glycerol kinase deficiency

    Article • Muscle & Nerve, April 1989, Wiley

    Prof Corrado Angelini

  566. The role of life events in the myasthenia gravis outcome: a one-year longitudinal study

    Article • Acta Neurologica Scandinavica, April 1989, Wiley

    Prof Corrado Angelini

  567. Myosin heavy chain composition of muscle fibers in spinal muscular atrophy

    Article • Muscle & Nerve, January 1989, Wiley

    Prof Corrado Angelini

  568. Increases in walking distance in patients with peripheral vascular disease treated with L-carnitine: a double-blind, cross-over study.

    Article • Circulation, April 1988, Wolters Kluwer Health

    Prof Corrado Angelini

  569. Psychiatric disturbances associated with myasthenia gravis

    Article • Acta Psychiatrica Scandinavica, April 1988, Wiley

    Prof Corrado Angelini

  570. The natural history of cardiac involvement in myotonic dystrophy: An eight-year follow-up in 17 patients

    Article • Clinical Cardiology, April 1988, Wiley

    Prof Corrado Angelini

  571. Glucose and ketone body turnover in carnitine-palmitoyl-transferase deficiency

    Article • Metabolism, September 1987, Elsevier

    Prof Corrado Angelini

  572. Exercise-induced recurrent myoglobinuria: Defective activity of inner carnitine palmitoyltransferase in muscle mitochondria of two patients

    Article • Neurology, July 1987, Wolters Kluwer Health

    Prof Corrado Angelini

  573. Population data on benign and severe forms of X-linked muscular dystrophy

    Article • Human Genetics, March 1987, Springer Science + Business Media

    Prof Corrado Angelini

  574. Clinical varieties of carnitine and carnitine palmitoyltransferase deficiency

    Article • Clinical Biochemistry, February 1987, Elsevier

    Prof Corrado Angelini

  575. Friedreich's disease: V. Variant form with vitamin E deficiency and normal fat absorption

    Article • Neurology, January 1987, Wolters Kluwer Health

    Prof Corrado Angelini

  576. Genetic epidemiology of myotonic dystrophy

    Article • Genetic Epidemiology, January 1987, Wiley

    Prof Corrado Angelini

  577. Myotonic dystrophy and chromosome translocation segregating in the same family

    Article • Journal of Neurogenetics, January 1987, Taylor & Francis

    Prof Corrado Angelini

  578. Toxic myopathy induced by industrial minerals oils: Clinical and histopathological features

    Article • Neurological Sciences, December 1986, Springer Science + Business Media

    Prof Corrado Angelini

  579. Childhood encephalomyopathy with cytochrome c oxidase deficiency, ataxia, muscle wasting, and mental impairment

    Article • Neurology, August 1986, Wolters Kluwer Health

    Prof Corrado Angelini

  580. Malonyl-CoA Abnormal Inhibition of Residual Enzyme Activity in Carnitine Palmitoyltransferase Deficiency

    Article • European Neurology, January 1986, Karger Publishers

    Prof Corrado Angelini

  581. Sensory, Motor, and Autonomic Neuropathy in Patients with Multiple Symmetric Lipomatosis

    Article • Medicine, November 1985, Wolters Kluwer Health

    Prof Corrado Angelini

  582. Carnitine deficiency, organic acidemias, and Reye's syndrome

    Article • Neurology, July 1985, Wolters Kluwer Health

    Prof Corrado Angelini

  583. Familial neuromuscular disease with tubular aggregates

    Article • Muscle & Nerve, May 1985, Wiley

    Prof Corrado Angelini

  584. Tubular aggregates: Sarcoplasmic reticulum origin, calcium storage ability, and functional implications

    Article • Muscle & Nerve, May 1985, Wiley

    Prof Corrado Angelini

  585. Carnitine and acyltransferase in experimental neurogenic atrophies: changes with treatment

    Article • Deutsche Zeitschrift für Nervenheilkunde, October 1984, Springer Science + Business Media

    Prof Corrado Angelini

  586. Myoglobinuria and carnitine palmityltransferase (CPT) deficiency: Studies with malonyl-CoA suggest absence of only CPT-II

    Article • Neurology, March 1984, Wolters Kluwer Health

    Prof Corrado Angelini

  587. Incidence and Risk Factors of Motor Neuron Disease in the Venice and Padua Districts of Italy, 1972–1979

    Article • Neuroepidemiology, January 1983, Karger Publishers

    Prof Corrado Angelini

  588. Carnitine, carnitine acyltransferases, and rat brain function

    Article • Experimental Neurology, November 1982, Elsevier

    Prof Corrado Angelini

  589. Autoimmune neuromuscular disease induced by a preparation of choline acetyltransferase

    Article • Experimental Neurology, January 1982, Elsevier

    Prof Corrado Angelini

  590. Peroneal muscular atrophy with ataxia and partial myoclonic epilepsy

    Article • Deutsche Zeitschrift für Nervenheilkunde, September 1981, Springer Science + Business Media

    Prof Corrado Angelini

  591. Carnitine deficiency induced during hemodialysis and hyperlipidemia: effect of replacement therapy

    Article • American Journal of Clinical Nutrition, August 1981, Oxford University Press (OUP)

    Prof Corrado Angelini

  592. Carnitine palmityl transferase deficiency: Clinical variability, carrier detection, and autosomal-recessive inheritance

    Article • Neurology, July 1981, Wolters Kluwer Health

    Prof Corrado Angelini

  593. Myopathological Findings in Progressive Myoclonus Epilepsy

    Article • January 1981, Springer Science + Business Media

    Prof Corrado Angelini

  594. Systemic Carnitine Deficiency — A Treatable Inherited Lipid-Storage Disease Presenting as Reye's Syndrome

    Article • The New England Journal of Medicine and Surgery and the Collateral Branches of Science, December 1980, New England Journal of Medicine (NEJM/MMS)

    Prof Corrado Angelini

  595. Plasma and Urine Carnitine Levels During Development

    Article • Pediatric Research, December 1980, Springer Science + Business Media

    Prof Corrado Angelini

  596. Abnormal myomuscular junctions and AChE in a congenital neuromuscular disease

    Article • Muscle & Nerve, May 1980, Wiley

    Prof Corrado Angelini

  597. Duchenne muscular dystrophy

    Article • Human Genetics, April 1980, Springer Science + Business Media

    Prof Corrado Angelini

  598. Free and acyl-carnitines in human milk and colostrum: 89

    Article • Pediatric Research, February 1980, Springer Science + Business Media

    Prof Corrado Angelini

  599. Multisystem triglyceride storage disorder with impaired long-chain fatty acid oxidation

    Article • Annals of Neurology, January 1980, Wiley

    Prof Corrado Angelini

  600. Assessment of the value of thymic scan in myasthenia gravis

    Article • Deutsche Zeitschrift für Nervenheilkunde, January 1979, Springer Science + Business Media

    Prof Corrado Angelini

  601. Carnitine deficiency: Acute postpartum crisis

    Article • Annals of Neurology, December 1978, Wiley

    Prof Corrado Angelini

  602. CARNITINE DEFICIENCY INDUCED DURING HÆMODIALYSIS

    Article • The Lancet, April 1978, Elsevier

    Prof Corrado Angelini

  603. Duchenne muscular dystrophy

    Article • Human Genetics, January 1977, Springer Science + Business Media

    Prof Corrado Angelini

  604. DUCHENNE CARRIER DETECTION

    Article • The Lancet, August 1976, Elsevier

    Prof Corrado Angelini

  605. Carnitine deficiency of skeletal muscle: Report of a treated case

    Article • Neurology, July 1976, Wolters Kluwer Health

    Prof Corrado Angelini

  606. DUCHENNE CARRIER DETECTION

    Article • The Lancet, July 1976, Elsevier

    Prof Corrado Angelini

  607. Lipid storage myopathies

    Article • Deutsche Zeitschrift für Nervenheilkunde, January 1976, Springer Science + Business Media

    Prof Corrado Angelini

  608. CARNITINE DEFICIENCY

    Article • The Lancet, September 1975, Elsevier

    Prof Corrado Angelini

  609. Geographic distribution of hereditary myopathies in northeast Italy

    Article • Social Biology, September 1974, Taylor & Francis

    Prof Corrado Angelini

  610. Mitochondria-Lipid-Glycogen (MLG) Disease of Muscle

    Article • Archives of Neurology, September 1973, American Medical Association (AMA)

    Prof Corrado Angelini

  611. Subcellular distribution of acid and neutral α-glucosidases in normal, acid maltose deficient, and myophosphorylase deficient human skeletal muscle

    Article • Archives of Biochemistry and Biophysics, May 1973, Elsevier

    Prof Corrado Angelini

  612. Carnitine Deficiency of Human Skeletal Muscle with Associated Lipid Storage Myopathy: A New Syndrome

    Article • Science, March 1973, American Association for the Advancement of Science

    Prof Corrado Angelini

  613. Adult Acid Maltase Deficiency

    Article • The New England Journal of Medicine and Surgery and the Collateral Branches of Science, November 1972, New England Journal of Medicine (NEJM/MMS)

    Prof Corrado Angelini

  614. Comparative Study of Acid Maltase Deficiency

    Article • Archives of Neurology, April 1972, American Medical Association (AMA)

    Prof Corrado Angelini

  615. Developmental patterns of LDH isozymes in fast and slow muscles of the rat

    Article • Archives of Biochemistry and Biophysics, November 1970, Elsevier

    Prof Corrado Angelini

  616. Early ultrastructural and biochemical changes in muscle in dystrophia myotonica

    Article • Journal of the Neurological Sciences, June 1970, Elsevier

    Prof Corrado Angelini

  617. Enzymes of the glycogen cycle and glycolysis in various human neuromuscular disorders.

    Article • Journal of Neurology Neurosurgery & Psychiatry, October 1967, BMJ

    Prof Corrado Angelini