Prof Corrado Angelini

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Email corrado.angelini@unipd.it
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How to treat dystrophinopathy

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

Prof Corrado Angelini
Limb–Girdle Muscular Dystrophy D2 TNPO3-Related: A Quality of Life Study

Article • Muscles, July 2023, MDPI AG

Prof Corrado Angelini
A collection of articles dedicated to energy and metabolism

Article • Muscles, July 2023, MDPI AG

Prof Corrado Angelini
History of international connections of myology in Europe

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

Prof Corrado Angelini
ALL ICNMD Congresses in details

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

Prof Corrado Angelini
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
Myofibrillar myopathies are due to mutations in Z-line proteins

Article • Muscles, April 2023, MDPI AG

Prof Corrado Angelini
Explains the history and status of art in a myopathy frequent in Tunisia

Article • Muscles, April 2023, MDPI AG

Prof Corrado Angelini
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
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
A full account of metabolic myopathy,clinical signs, diagnostic odissea

Article • Molecular Genetics and Metabolism, September 2022, Elsevier

Prof Corrado Angelini
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
Muscles—A New Open Access Journal

Article • Muscles, March 2022, MDPI AG

Prof Corrado Angelini
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
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
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
In a patient with limb asymmetry calsequestrin mutation was identified

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

Prof Corrado Angelini
NEW GENES AND DISEASES

Article • Neuromuscular Disorders, October 2021, Elsevier

Prof Corrado Angelini
LIMB-girdle muscular dystrophy D2 and cytokines: A link to HTV1 resistance

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

Prof Corrado Angelini
LGMD

Article • Neuromuscular Disorders, October 2021, Elsevier

Prof Corrado Angelini
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
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
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
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
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
Circulating miR-206 as a Biomarker for Patients Affected by Severe Limb Girdle Muscle Dystrophies

Article • Genes, January 2021, MDPI AG

Prof Corrado Angelini
Recommendation about going to altitude for people

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

Prof Corrado Angelini
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
Assessing diagnosis and managing respiratory and cardiac complications of sarcoglycanopathy

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

Prof Corrado Angelini
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
Diagnostic challenges in metabolic myopathies

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

Prof Corrado Angelini
MiRNAs, Myostatin, and Muscle MRI Imaging as Biomarkers of Clinical Features in Becker Muscular Dystrophy

Article • Diagnostics, September 2020, MDPI AG

Prof Corrado Angelini
A 5-year clinical follow-up study from the Italian National Registry for FSHD

Article • Journal of Neurology, August 2020, Springer Science + Business Media

Prof Corrado Angelini
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
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
Phenotypic Variability Among Patients With D4Z4 Reduced Allele Facioscapulohumeral Muscular Dystrophy

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

Prof Corrado Angelini
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
MyomiRNAs and myostatin as physical rehabilitation biomarkers for myotonic dystrophy

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

Prof Corrado Angelini
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
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
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
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
MiRNAs as biomarkers of phenotype in neutral lipid storage disease with myopathy

Article • Muscle & Nerve, November 2019, Wiley

Prof Corrado Angelini, Dr Sara Missaglia
Review: Danon disease: Review of natural history and recent advances

Article • Neuropathology and Applied Neurobiology, November 2019, Wiley

Prof Corrado Angelini
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
P.28Tracking cognitive changes in DM1 in a 5 year follow-up study

Article • Neuromuscular Disorders, October 2019, Elsevier

Prof Corrado Angelini
Update on polyglucosan storage diseases

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

Prof Corrado Angelini
This review explains the revised nomenclature of limb-girdle muscular dystrophies.

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

Prof Corrado Angelini
MyomiRNAs Dysregulation in ALS Rehabilitation

Article • Brain Sciences, January 2019, MDPI AG

Prof Corrado Angelini
This is a top review on muscle lipid metabolic disorders

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

Prof Corrado Angelini
Advances in imaging of brain abnormalities in neuromuscular disease

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

Prof Corrado Angelini
A new family with transportinopathy: increased clinical heterogeneity

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

Prof Corrado Angelini
Authors’ reply

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

Prof Corrado Angelini
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
Clinical and genetic characterization of an Italian family with slow-channel syndrome

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

Prof Corrado Angelini
Regulation of ER-mitochondria contacts by Parkin via Mfn2

Article • Pharmacological Research, December 2018, Elsevier

Prof Corrado Angelini
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
Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients

Article • Genes, October 2018, MDPI AG

Prof Corrado Angelini
LGMD AUTOSOMAL RESSESSIVE AND DOMINANT

Article • Neuromuscular Disorders, October 2018, Elsevier

Prof Corrado Angelini
METABOLIC MYOPATHIES I

Article • Neuromuscular Disorders, October 2018, Elsevier

Prof Corrado Angelini
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
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
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
An update on diagnostic options and considerations in limb-girdle dystrophies

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

Prof Corrado Angelini
Pathogenetic mechanism of limb girdle muscle diseases: an integrated approach

Article • August 2018, Morressier

Prof Corrado Angelini
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
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease

Article • Neuromuscular Disorders, July 2018, Elsevier

Prof Corrado Angelini
A mobile app for patients with Pompe disease and its possible clinical applications

Article • Neuromuscular Disorders, June 2018, Elsevier

Prof Corrado Angelini
Enzyme replacement therapy for the treatment of Pompe disease

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

Prof Corrado Angelini
Interpreting Genetic Variants in Titin in Patients With Muscle Disorders

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

Prof Corrado Angelini, Giorgio Tasca
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
Remodel mitochondria and get energized

Article • Neurology, March 2018, Wolters Kluwer Health

Prof Corrado Angelini
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
This illustrates a series of neuromuscular and metabolic disorders with patients clinical feature.

Article • January 2018, Springer Science + Business Media

Prof Corrado Angelini
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
Emery-Dreifuss Muscular Dystrophy Type 4

Article • October 2017, Springer Science + Business Media

Prof Corrado Angelini
Danon Disease

Article • October 2017, Springer Science + Business Media

Prof Corrado Angelini
Amyotrophic Lateral Sclerosis

Article • October 2017, Springer Science + Business Media

Prof Corrado Angelini
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
Report on nationwide Italian collaborative network for muscle glycogen storage disorders

Article • Neuromuscular Disorders, October 2017, Elsevier

Prof Corrado Angelini
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
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
ATP1A3 mutant patient with alternating hemiplegia of childhood and brain spectroscopic abnormalities

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

Prof Corrado Angelini
Aberrant Compartment Formation by HSPB2 Mislocalizes Lamin A and Compromises Nuclear Integrity and Function

Article • Cell Reports, August 2017, Elsevier

Prof Corrado Angelini
Revisiting mitochondrial ocular myopathies: a study from the Italian Network

Article • Journal of Neurology, July 2017, Springer Science + Business Media

Prof Corrado Angelini
study of biopsies in late onset pompe cases

Article • Neuropathology and Applied Neurobiology, July 2017, Wiley

Prof Corrado Angelini
Erratum to: Muscle MRI in neutral lipid storage disease (NLSD)

Article • Journal of Neurology, June 2017, Springer Science + Business Media

Giorgio Tasca, Prof Corrado Angelini
Muscle MRI in neutral lipid storage disease (NLSD)

Article • Journal of Neurology, May 2017, Springer Science + Business Media

Giorgio Tasca, Prof Corrado Angelini
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
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
Generation of induced Pluripotent Stem Cells as disease modelling of NLSDM

Article • Molecular Genetics and Metabolism, May 2017, Elsevier

Prof Corrado Angelini
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
Cerebral venous thrombosis at high altitude: A systematic review

Article • Revue Neurologique, April 2017, Elsevier

Prof Corrado Angelini, Dr Mariangela Panebianco
Elevated Expression of Moesin in Muscular Dystrophies

Article • American Journal Of Pathology, March 2017, Elsevier

Prof Corrado Angelini
Metabolites-mitochondria-macrophages (MMM): new therapeutic avenues for inflammation and muscle atrophy

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

Prof Corrado Angelini
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
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
The role of transmission electron microscopy in vacuole-associated myopathies

Article • Ultrastructural Pathology, January 2017, Taylor & Francis

Prof Corrado Angelini
Study of TFEB and experiments on DAnon and Pompe fibroblasts.

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

Prof Corrado Angelini
Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene Mutations

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

Prof Corrado Angelini
Coverage of pathogenesis and clinical features of alphabet,gamma,delta sarcoglycanopathies.

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

Prof Corrado Angelini
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
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
Review of the state of the art in dysferlin deficient patients.

Article • Muscle & Nerve, October 2016, Wiley

Prof Corrado Angelini
NMR voxel-based morphometry and functional analysis as neural correlates of neuropsychological dysfunction in DM1

Article • Neuromuscular Disorders, October 2016, Elsevier

Prof Corrado Angelini
Functional studied in Becker muscular dystrophy.

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

Prof Corrado Angelini
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
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
Lipolysis and lipophagy in lipid storage myopathies

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

Prof Corrado Angelini
The genetic basis of undiagnosed muscular dystrophies and myopathies

Article • Neurology, June 2016, Wolters Kluwer Health

Prof Corrado Angelini, Giorgio Tasca
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
A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes

Article • Journal of Neurology, April 2016, Springer Science + Business Media

Prof Corrado Angelini
Next generation sequencing detection of late onset pompe disease

Article • Muscle & Nerve, April 2016, Wiley

Prof Corrado Angelini
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
“Mitochondrial neuropathies”: A survey from the large cohort of the Italian Network

Article • Neuromuscular Disorders, April 2016, Elsevier

Prof Corrado Angelini
Challenges and progress in the diagnosis of Congenital Muscular Dystrophies

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

Prof Corrado Angelini
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
Neuromuscular disorders of autoimmune or endocrinological causes are presented.

Article • January 2016, Springer Science + Business Media

Prof Corrado Angelini
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
Circulating microRNAs as biomarkers of muscle differentiation and atrophy in ALS

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

Prof Corrado Angelini
Diagnosis and discovery in limb-girdle muscular dystrophy

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

Prof Corrado Angelini
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
Reply

Article • Muscle & Nerve, November 2015, Wiley

Prof Corrado Angelini
Erratum to: Redefining phenotypes associated with mitochondrial DNA single deletion

Article • Journal of Neurology, November 2015, Springer Science + Business Media

Prof Corrado Angelini
Genetic Modifiers of Duchenne Muscular Dystrophy and Dilated Cardiomyopathy

Article • PLoS ONE, October 2015, PLOS

Prof Corrado Angelini, Dr Vincenzo Calvo
Are white matters changes in dm1 brain related to anosognosia?

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

Prof Corrado Angelini
Biomarkers in skeletal muscle rehabilitation in myotonic dystrophy

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

Prof Corrado Angelini
Familial polyglucosan body myopathy: A clinical spectrum

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

Prof Corrado Angelini
Investigation of regulatory factors in Lipid Storage Myopathies (LSM) with triglyceride accumulation

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

Prof Corrado Angelini
Large screening of patients diagnosed as limb girdle muscular dystrophy or congenital myopathy using Motorplex

Article • Neuromuscular Disorders, October 2015, Elsevier

Prof Corrado Angelini
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
GYG1gene mutations in a family with polyglucosan body myopathy

Article • Neurology Genetics, September 2015, Wolters Kluwer Health

Prof Corrado Angelini
[An] enumeration shall be made…

Article • Neurology, September 2015, Wolters Kluwer Health

Prof Corrado Angelini
TNF-α-Induced microRNAs Control Dystrophin Expression in Becker Muscular Dystrophy

Article • Cell Reports, September 2015, Elsevier

Prof Corrado Angelini
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
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
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
Incomplete penetrance in limb-girdle muscular dystrophy type 1F

Article • Muscle & Nerve, June 2015, Wiley

Prof Corrado Angelini
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
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
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
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
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
Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E

Article • Neurology, April 2015, Wolters Kluwer Health

Prof Corrado Angelini
Spectrum of metabolic myopathies

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

Prof Corrado Angelini
Redefining phenotypes associated with mitochondrial DNA single deletion

Article • Journal of Neurology, March 2015, Springer Science + Business Media

Prof Corrado Angelini
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
Familial polyglucosan body myopathy with unusual phenotype

Article • Neuropathology and Applied Neurobiology, March 2015, Wiley

Prof Corrado Angelini
Ergebnisse und Empfehlungen des 7th European Hypoxia Symposiums 2014

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

Prof Corrado Angelini
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
Prevention of cardiomyopathy in Duchenne muscular dystrophy

Article • The Lancet Neurology, February 2015, Elsevier

Prof Corrado Angelini
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
Erratum: Measurement of the absolute branching fractions forDs−→

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

Prof Corrado Angelini
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
Dominant muscular dystrophy with a novelSYNE1gene mutation

Article • Muscle & Nerve, November 2014, Wiley

Prof Corrado Angelini
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
T.P.18

Article • Neuromuscular Disorders, October 2014, Elsevier

Prof Corrado Angelini
G.O.7

Article • Neuromuscular Disorders, October 2014, Elsevier

Prof Corrado Angelini
G.P.251

Article • Neuromuscular Disorders, October 2014, Elsevier

Prof Corrado Angelini
Genotype-phenotype correlation in Pompe disease, a step forward

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

Prof Corrado Angelini
Skeletal Muscle Satellite Cells in Amyotrophic Lateral Sclerosis

Article • Ultrastructural Pathology, July 2014, Taylor & Francis

Prof Corrado Angelini
Muscle atrophy, ubiquitin-proteasome, and autophagic pathways in dysferlinopathy

Article • Muscle & Nerve, May 2014, Wiley

Prof Corrado Angelini
Improving the knowledge of amyotrophic lateral sclerosis genetics: novel SOD1 and FUS variants

Article • Neurobiology of Aging, May 2014, Elsevier

Prof Corrado Angelini
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
CIR-Myo News: Proceedings of the 2014 Spring Padua Muscle Days

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

Prof Corrado Angelini
Neurologia Clinica

Article • March 2014, Societa Editrice Esculapio

Prof Corrado Angelini
Myoclonus in mitochondrial disorders

Article • Movement Disorders, February 2014, Wiley

Prof Corrado Angelini
Alterations in Notch signalling in skeletal muscles from mdx and dko dystrophic mice and patients with Duchenne muscular dystrophy

Article • Experimental Physiology, January 2014, Wiley

Prof Corrado Angelini
Genetic Neuromuscular Disorders

Article • January 2014, Springer Science + Business Media

Prof Corrado Angelini
Limb-Girdle Muscular Dystrophy Type 2F

Article • January 2014, Springer Science + Business Media

Prof Corrado Angelini
Limb-Girdle Muscular Dystrophy Type 2N

Article • January 2014, Springer Science + Business Media

Prof Corrado Angelini
Limb-Girdle Muscular Dystrophy Type 2K

Article • January 2014, Springer Science + Business Media

Prof Corrado Angelini
Amyotrophic Lateral Sclerosis Type 1

Article • January 2014, Springer Science + Business Media

Prof Corrado Angelini
Ataxia-Telangiectasia, Louis-Bar Syndrome

Article • January 2014, Springer Science + Business Media

Prof Corrado Angelini
Glycogenosis Type 3, Cori-Forbes Disease

Article • January 2014, Springer Science + Business Media

Prof Corrado Angelini
Niemann-Pick Disease Type C1

Article • January 2014, Springer Science + Business Media

Prof Corrado Angelini
Myotonic Dystrophy Type 2, Proximal Myotonic Myopathy

Article • January 2014, Springer Science + Business Media

Prof Corrado Angelini
Spastic Ataxia, Charlevoix-Saguenay Type

Article • January 2014, Springer Science + Business Media

Prof Corrado Angelini
Multiple Acyl-CoA Dehydrogenase Deficiency

Article • January 2014, Springer Science + Business Media

Prof Corrado Angelini
Systemic Primary Carnitine Deficiency

Article • January 2014, Springer Science + Business Media

Prof Corrado Angelini
Kearns-Sayre Syndrome

Article • January 2014, Springer Science + Business Media

Prof Corrado Angelini
Brody Disease

Article • January 2014, Springer Science + Business Media

Prof Corrado Angelini
Limb-Girdle Muscular Dystrophy Type 2C

Article • January 2014, Springer Science + Business Media

Prof Corrado Angelini
Charcot-Marie-Tooth Neuropathy with Pyramidal Features

Article • January 2014, Springer Science + Business Media

Prof Corrado Angelini
Myotonic Dystrophy Type 1, Steinert Disease

Article • January 2014, Springer Science + Business Media

Prof Corrado Angelini
Hereditary Inclusion Body Myopathy Type 2

Article • January 2014, Springer Science + Business Media

Prof Corrado Angelini
Autophagy in Natural History and After ERT in Glycogenosis Type II

Article • January 2014, Springer Science + Business Media

Prof Corrado Angelini
Limb-Girdle Muscular Dystrophies

Article • January 2014, Elsevier

Prof Corrado Angelini
Friedreich’s Ataxia

Article • January 2014, Springer Science + Business Media

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

Article • Journal of Neurology, December 2013, Springer Science + Business Media

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

Article • Journal of Neurology, November 2013, Springer Science + Business Media

Prof Corrado Angelini
Muscle atrophy in Limb Girdle Muscular Dystrophy 2A: a morphometric and molecular study

Article • Neuropathology and Applied Neurobiology, October 2013, Wiley

Prof Corrado Angelini
Erratum: Measurement of theD*(2010)...

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

Prof Corrado Angelini
Erratum: Measurement of theD*(2010)...

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

Prof Corrado Angelini
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
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
P.5.10 Clinical and ultrastructural changes in transportinopathy

Article • Neuromuscular Disorders, October 2013, Elsevier

Prof Corrado Angelini
P.12.2 Dominant distal myopathy due to slow channelopathy

Article • Neuromuscular Disorders, October 2013, Elsevier

Prof Corrado Angelini
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
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
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
Next-Generation Sequencing Identifies Transportin 3 as the Causative Gene for LGMD1F

Article • PLoS ONE, May 2013, PLOS

Prof Corrado Angelini
Pilot trial of clenbuterol in spinal and bulbar muscular atrophy

Article • Neurology, May 2013, Wolters Kluwer Health

Prof Corrado Angelini
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
Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation

Article • Neurology, May 2013, Wolters Kluwer Health

Prof Corrado Angelini
Clinical phenotype, muscle MRI and muscle pathology of LGMD1F

Article • Journal of Neurology, April 2013, Springer Science + Business Media

Prof Corrado Angelini
EFNS review on the role of muscle biopsy in the investigation of myalgia

Article • European Journal of Neurology, April 2013, Wiley

Prof Corrado Angelini
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
Erratum: Branching fraction measurements of the color-suppressed decaysB¯0

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

Prof Corrado Angelini
New treatments for myasthenia: a focus on antisense oligonucleotides

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

Prof Corrado Angelini
Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy

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

Prof Corrado Angelini
Autonomic regulation in muscular dystrophy

Article • Frontiers in Physiology, January 2013, Frontiers

Prof Corrado Angelini
Disruption of skeletal muscle mitochondrial network genes and miRNAs in amyotrophic lateral sclerosis

Article • Neurobiology of Disease, January 2013, Elsevier

Prof Corrado Angelini
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
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
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
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
Ultrastructural changes in LGMD1F

Article • Neuropathology, December 2012, Wiley

Prof Corrado Angelini
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
Fatigue in muscular dystrophies

Article • Neuromuscular Disorders, December 2012, Elsevier

Prof Corrado Angelini
Impaired autophagy contributes to muscle atrophy in glycogen storage disease type II patients

Article • Autophagy, November 2012, Taylor & Francis

Prof Corrado Angelini
Measuring quality of life impairment in skeletal muscle channelopathies

Article • European Journal of Neurology, November 2012, Wiley

Prof Corrado Angelini
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
S.P.24 24-Hour Holter ECG in type II and III SMA

Article • Neuromuscular Disorders, October 2012, Elsevier

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

Article • Neuromuscular Disorders, October 2012, Elsevier

Prof Corrado Angelini
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
TGFBR2 but not SPP1 genotype modulates osteopontin expression in Duchenne muscular dystrophy muscle

Article • The Journal of Pathology, August 2012, Wiley

Prof Corrado Angelini
Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy

Article • Neurology, June 2012, Wolters Kluwer Health

Prof Corrado Angelini
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
Assessment of mitochondrial respiratory chain enzymatic activities on tissues and cultured cells

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

Prof Corrado Angelini
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
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
Erratum: Search forCPviolation in the decay

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

Prof Corrado Angelini
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
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
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
Atypical onset in a series of 122 cases with FacioScapuloHumeral Muscular Dystrophy

Article • Clinical Neurology and Neurosurgery, April 2012, Elsevier

Prof Corrado Angelini
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
Publisher’s Note: Observation of the baryonicBdecay

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

Prof Corrado Angelini
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
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
Neuromuscular diseases: advances in therapy and diagnosis

Article • The Lancet Neurology, January 2012, Elsevier

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

Article • Journal of Neurology, November 2011, Springer Science + Business Media

Prof Corrado Angelini
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
Optimization of respiratory chain enzymatic assays in muscle for the diagnosis of mitochondrial disorders

Article • Mitochondrion, November 2011, Elsevier

Prof Corrado Angelini
Enzyme Replacement Therapy for Pompe Disease

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

Prof Corrado Angelini
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
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
Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations

Article • Muscle & Nerve, September 2011, Wiley

Prof Corrado Angelini
Diagnostic Approach to Pauci- or Asymptomatic hyperCKemia

Article • September 2011, Wiley

Prof Corrado Angelini
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
ALS risk but not phenotype is affected by ataxin-2 intermediate length polyglutamine expansion

Article • Neurology, June 2011, Wolters Kluwer Health

Prof Corrado Angelini
Study of Muscle Autophagy and Atrophy Markers in Different Phenotypes of Pompe Disease

Article • Clinical Therapeutics, June 2011, Elsevier

Prof Corrado Angelini
Outcome Measures in Juvenile/Adult GSDII Cases

Article • Clinical Therapeutics, June 2011, Elsevier

Prof Corrado Angelini
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
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
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
Cognitive profile and MRI findings in limb-girdle muscular dystrophy 2I

Article • Journal of Neurology, February 2011, Springer Science + Business Media

Prof Corrado Angelini
Erratum to: Comparison of muscle ultrastructure in myasthenia gravis with anti-MuSK and anti-AChR antibodies

Article • Journal of Neurology, January 2011, Springer Science + Business Media

Prof Corrado Angelini
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
Diagnosis and Management of Autoimmune Myasthenia Gravis

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

Prof Corrado Angelini
A type of Amyotrophic Lateral Sclerosis or Lou Gehrig disease has genetic biomarkers

Article • Neurodegenerative Diseases, January 2011, Karger Publishers

Prof Corrado Angelini
SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy

Article • Neurology, December 2010, Wolters Kluwer Health

Prof Corrado Angelini
Comparison of muscle ultrastructure in myasthenia gravis with anti-MuSK and anti-AChR antibodies

Article • Journal of Neurology, November 2010, Springer Science + Business Media

Prof Corrado Angelini
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
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
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
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
A review of what is known about fatty acids inherited defects

Article • September 2010, Wiley

Prof Corrado Angelini
Transcriptional and translational effects of intronic CAPN3 gene mutations

Article • Human Mutation, July 2010, Wiley

Prof Corrado Angelini
Right hemisphere dysfunction and emotional processing in ALS: an fMRI study

Article • Journal of Neurology, July 2010, Springer Science + Business Media

Professor Carlo Semenza, Prof Corrado Angelini
The Role of Ultrastructural Examination in Storage Diseases

Article • Ultrastructural Pathology, June 2010, Taylor & Francis

Prof Corrado Angelini
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
Metabolic myopathies: the challenge of new treatments

Article • Current Opinion in Pharmacology, June 2010, Elsevier

Prof Corrado Angelini
A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score

Article • Muscle & Nerve, May 2010, Wiley

Prof Corrado Angelini
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
EFNS guidelines on the diagnostic approach to pauci- or asymptomatic hyperCKemia

Article • European Journal of Neurology, April 2010, Wiley

Prof Corrado Angelini
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
Subacute sensory ataxia and optic neuropathy with thiamine deficiency

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

Prof Corrado Angelini
Brain involvement in myotonic dystrophies: neuroimaging and neuropsychological comparative study in DM1 and DM2

Article • Journal of Neurology, March 2010, Springer Science + Business Media

Prof Corrado Angelini
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
This represents an accurate description of disease course in two main LGMD

Article • Neurological Research, February 2010, Taylor & Francis

Prof Corrado Angelini
Quality of life and motor impairment in ALS: Italian validation of ALSAQ

Article • Neurological Research, February 2010, Taylor & Francis

Prof Corrado Angelini
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
Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy

Article • Neuromuscular Disorders, January 2010, Elsevier

Prof Corrado Angelini
TDP-43 in skeletal muscle of patients affected with amyotrophic lateral sclerosis

Article • Amyotrophic Lateral Sclerosis, January 2010, Taylor & Francis

Prof Corrado Angelini
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
Natural history of upper motor neuron-dominant ALS

Article • Amyotrophic Lateral Sclerosis, November 2009, Taylor & Francis

Prof Corrado Angelini
G.P.15.08 High genetic variability in European population: The FSHD complex puzzle

Article • Neuromuscular Disorders, September 2009, Elsevier

Prof Corrado Angelini
G.P.4.07 Skeletal muscle regeneration in amyotrophic lateral sclerosis

Article • Neuromuscular Disorders, September 2009, Elsevier

Prof Corrado Angelini
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
Epidemiology of ALS in Padova district, Italy, from 1992 to 2005

Article • European Journal of Neurology, August 2009, Wiley

Prof Corrado Angelini
Reliability of the North Star Ambulatory Assessment in a multicentric setting

Article • Neuromuscular Disorders, July 2009, Elsevier

Prof Corrado Angelini
Carnitine deficiency

Article • OR Nurse, July 2009, Wolters Kluwer Health

Prof Corrado Angelini
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
Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample

Article • Clinical Genetics, June 2009, Wiley

Prof Corrado Angelini
Progress in enzyme replacement therapy in glycogen storage disease type II

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

Prof Corrado Angelini
Frequency of LGMD gene mutations in Italian patients with distinct clinical phenotypes

Article • Neurology, April 2009, Wolters Kluwer Health

Prof Corrado Angelini
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
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
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
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
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
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
Muscle histopathology in myasthenia gravis with antibodies against MuSK and AChR

Article • Neuropathology and Applied Neurobiology, February 2009, Wiley

Prof Corrado Angelini
Transcriptional behavior of DMD gene duplications in DMD/BMD males

Article • Human Mutation, February 2009, Wiley

Prof Corrado Angelini
Chapter 31 Muscular dystrophy

Article • January 2009, Elsevier

Prof Corrado Angelini
Standards of Care for Duchenne Muscular Dystrophy: Brief Treat-NMD Recommendations

Article • January 2009, Springer Science + Business Media

Prof Corrado Angelini
TDP-43 in skeletal muscle of patients affected with amyotrophic lateral sclerosis

Article • Amyotrophic Lateral Sclerosis, January 2009, Taylor & Francis

Prof Corrado Angelini
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
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
Sphingomonas paucimobilis associated with localised calf myositis

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

Prof Corrado Angelini
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
D.P.4.07 In vitro study of DM1 primary myotubes

Article • Neuromuscular Disorders, October 2008, Elsevier

Prof Corrado Angelini
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
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
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
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
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
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
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
Clinical and genetic characterization of Chanarin–Dorfman syndrome

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

Prof Corrado Angelini
Amyotrophic Lateral Sclerosis With Ragged-Red Fibers

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

Prof Corrado Angelini
Cardioembolic stroke in Danon disease

Article • Clinical Genetics, February 2008, Wiley

Prof Corrado Angelini
Molecular pathology and enzyme processing in various phenotypes of acid maltase deficiency

Article • Neurology, February 2008, Wolters Kluwer Health

Prof Corrado Angelini
Muscle histopathology in upper motor neuron-dominant amyotrophic lateral sclerosis

Article • Amyotrophic Lateral Sclerosis, January 2008, Taylor & Francis

Prof Corrado Angelini
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
Nutritional Recommendations for Patients with Glycogen Storage Disease Type II

Article • Clinical Therapeutics, January 2008, Elsevier

Prof Corrado Angelini
Dysferlinopathies

Article • Neurology India, January 2008, Medknow

Prof Corrado Angelini
Biochemical and ultrastructural evidence of endoplasmic reticulum stress in LGMD2I

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

Prof Corrado Angelini
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
Detection of an unstable non-coding tandem repeat in the ZNF291 gene

Article • Molecular and Cellular Probes, October 2007, Elsevier

Prof Corrado Angelini
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
G.P.14.15 Brain involvement in myotonic dystrophy type 2

Article • Neuromuscular Disorders, October 2007, Elsevier

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

Article • Neuromuscular Disorders, October 2007, Elsevier

Prof Corrado Angelini
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
G.P.7.02 Multicenter study on occurrence of auditory impairment in facioscapulohumeral muscular dystrophy

Article • Neuromuscular Disorders, October 2007, Elsevier

Prof Corrado Angelini
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
G.P.4.07 Relation between LGMD2B progression and physical activity

Article • Neuromuscular Disorders, October 2007, Elsevier

Prof Corrado Angelini
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
In common dystrophy, the hearing was impaired

Article • Audiology and Neurotology, August 2007, Karger Publishers

Prof Corrado Angelini
Late-onset GSDII with novel GAA gene mutation

Article • Clinical Genetics, April 2007, Wiley

Prof Corrado Angelini
Myelo-optico-neuropathy in copper deficiency occurring after partial gastrectomy

Article • Journal of Neurology, April 2007, Springer Science + Business Media

Prof Corrado Angelini
Activities of mitochondrial complexes correlate with nNOS amount in muscle from ALS patients

Article • Neuropathology and Applied Neurobiology, April 2007, Wiley

Prof Corrado Angelini
MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy

Article • Neuromuscular Disorders, April 2007, Elsevier

Prof Corrado Angelini
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
Childhood dermatomyositis associated with intracranial tumor and liver cysts

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

Prof Corrado Angelini
The role of corticosteroids in muscular dystrophy: A critical appraisal

Article • Muscle & Nerve, January 2007, Wiley

Prof Corrado Angelini
Disorders of lipid metabolism

Article • January 2007, Elsevier

Prof Corrado Angelini
Erratum: Dalitz-plot analysis of the decaysB±→K±

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

Prof Corrado Angelini
Expression profiling characterization of laminin α-2 positive MDC

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

Prof Corrado Angelini
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
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
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
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
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
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
McArdle disease: the mutation spectrum ofPYGMin a large Italian cohort

Article • Human Mutation, July 2006, Wiley

Prof Corrado Angelini
The glucocorticoid receptor N363S polymorphism and steroid response in Duchenne dystrophy

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

Prof Corrado Angelini
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
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
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
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
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
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
Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

Article • Human Mutation, January 2006, Wiley

Prof Corrado Angelini
A pilot trial with clenbuterol in amyotrophic lateral sclerosis

Article • Amyotrophic Lateral Sclerosis, January 2006, Taylor & Francis

Prof Corrado Angelini
Facioscapulohumeral Muscular Dystrophy and Occurrence of Heart Arrhythmia

Article • European Neurology, January 2006, Karger Publishers

Prof Corrado Angelini
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
Co-segregation of LMNA and PMP22 gene mutations in the same family

Article • Neuromuscular Disorders, December 2005, Elsevier

Prof Corrado Angelini
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
Decorin and biglycan expression is differentially altered in several muscular dystrophies

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

Prof Corrado Angelini
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes

Article • Journal of Medical Genetics, September 2005, BMJ

Prof Corrado Angelini
Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: A CoQ10-responsive condition

Article • Neurology, August 2005, Wolters Kluwer Health

Prof Corrado Angelini
Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy

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

Prof Corrado Angelini
The frequency of limb girdle muscular dystrophy 2A in northeastern Italy

Article • Neuromuscular Disorders, March 2005, Elsevier

Prof Corrado Angelini
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
Ultrastructural changes in dysferlinopathy support defective membrane repair mechanism

Article • Journal of Clinical Pathology, February 2005, BMJ

Prof Corrado Angelini
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
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
Correlating phenotype and genotype in the periodic paralyses

Article • Neurology, November 2004, Wolters Kluwer Health

Prof Corrado Angelini
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
LAMA2loss-of-function mutation in a girl with a mild congenital muscular dystrophy

Article • Neurology, September 2004, Wolters Kluwer Health

Prof Corrado Angelini
Large-scale disruption of microtubule pathways in morphologically normal human spastin muscle

Article • Neurology, April 2004, Wolters Kluwer Health

Prof Corrado Angelini
Molecular and muscle pathology in a series of caveolinopathy patients

Article • Human Mutation, January 2004, Wiley

Prof Corrado Angelini
Molecular diagnosis in LGMD2A: Mutation analysis or protein testing?

Article • Human Mutation, January 2004, Wiley

Prof Corrado Angelini
Motor function-muscle strength relationship in spinal muscular atrophy

Article • Muscle & Nerve, January 2004, Wiley

Prof Corrado Angelini
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
Loss of Calpain-3 Autocatalytic Activity in LGMD2A Patients with Normal Protein Expression

Article • American Journal Of Pathology, November 2003, Elsevier

Prof Corrado Angelini
Novel spastin mutations and their expression analysis in two Italian families

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

Prof Corrado Angelini
Role of Gabapentin in Spinal Muscular Atrophy

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

Prof Corrado Angelini
Acetylcholinesterase activity is affected by stress conditions in Paracentrotus lividus coelomocytes

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

Prof Corrado Angelini
Novel sarcoglycan gene mutations in a large cohort of Italian patients

Article • Journal of Medical Genetics, May 2003, BMJ

Prof Corrado Angelini
LGMD2E patients risk developing dilated cardiomyopathy

Article • Neuromuscular Disorders, May 2003, Elsevier

Prof Corrado Angelini
Memory deficits and retrieval processes in ALS1

Article • European Journal of Neurology, May 2003, Wiley

Prof Corrado Angelini
Cerebellar ataxia and coenzyme Q10 deficiency

Article • Neurology, April 2003, Wolters Kluwer Health

Prof Corrado Angelini, Prof Massimiliano Valeriani
Phenotype modulators in myophosphorylase deficiency

Article • Annals of Neurology, March 2003, Wiley

Prof Corrado Angelini
Clinical and molecular study in congenital muscular dystrophy with partial laminin ?2 (LAMA2) deficiency

Article • Human Mutation, January 2003, Wiley

Prof Corrado Angelini
Neuromuscular Diseases, Expert Clinicians Views

Article • Neuromuscular Disorders, January 2003, Elsevier

Prof Corrado Angelini
Gene expression profiling in dysferlinopathies using a dedicated muscle microarray

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

Prof Corrado Angelini
Muscle pathology in dysferlin deficiency

Article • Neuropathology and Applied Neurobiology, December 2002, Wiley

Prof Corrado Angelini
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
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
Publisher’s Note: Measurement of theB0Lifetime with Partially Reconstructed

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

Prof Corrado Angelini
Integrin α7β1 in Muscular Dystrophy/Myopathy of Unknown Etiology

Article • American Journal Of Pathology, June 2002, Elsevier

Prof Corrado Angelini
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
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
Epidemiology of myotonic dystrophy in Italy: re-apprisal after genetic diagnosis

Article • Clinical Genetics, January 2002, Wiley

Prof Corrado Angelini
Validation of internationally agreed criteria to diagnose Amyotrophic Lateral Sclerosis.

Article • Neuroepidemiology, January 2002, Karger Publishers

Prof Corrado Angelini
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
Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy

Article • Neurology, July 2001, Wolters Kluwer Health

Prof Corrado Angelini
A new mutation in a family with cold-aggravated myotonia disrupts Na+ channel inactivation

Article • Neurology, April 2001, Wolters Kluwer Health

Prof Corrado Angelini
Calpain-3 and dysferlin protein screening in patients with limb-girdle dystrophy and myopathy

Article • Neurology, March 2001, Wolters Kluwer Health

Prof Corrado Angelini
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
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
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
New therapies in muscular dystrophies

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

Prof Corrado Angelini
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
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
A novel laminin 2 isoform in severe laminin 2 deficient congenital muscular dystrophy

Article • Neurology, October 2000, Wolters Kluwer Health

Prof Corrado Angelini
Hereditary spastic paraplegia associated with peripheral neuropathy: a distinct clinical and genetic entity

Article • Neuromuscular Disorders, October 2000, Elsevier

Prof Corrado Angelini
Acute Quadriplegic Myopathy in a 17-Month-Old Boy

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

Prof Corrado Angelini
A multicenter, double-blind, randomized trial of deflazacort versus prednisone in Duchenne muscular dystrophy

Article • Muscle & Nerve, January 2000, Wiley

Prof Corrado Angelini
Private ?- and ?-sarcoglycan gene mutations: Evidence of a founder effect in Northern Italy

Article • Human Mutation, January 2000, Wiley

Prof Corrado Angelini
Riboflavin therapy

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

Prof Corrado Angelini
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
Cognitive impairment and (CTG)n expansion in myotonic dystrophy patients

Article • Biological Psychiatry, August 1999, Elsevier

Prof Corrado Angelini
Could Utrophin Rescue the Myocardium of Patients with Dystrophin Gene Mutations?

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

Prof Corrado Angelini
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
Prenatal diagnosis in a family affected with β-sarcoglycan muscular dystrophy

Article • Neuromuscular Disorders, July 1999, Elsevier

Prof Corrado Angelini
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
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
Regeneration in sarcoglycanopathies: expression studies of sarcoglycans and other muscle proteins

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

Prof Corrado Angelini
Heart involvement in muscular dystrophies due to sarcoglycan gene mutations

Article • Muscle & Nerve, April 1999, Wiley

Prof Corrado Angelini
Clinical and neuroimaging study of central nervous system in congenital myotonic dystrophy

Article • Journal of Neurology, March 1999, Springer Science + Business Media

Prof Corrado Angelini
Calpain III mutation analysis of a heterogeneous limb-girdle muscular dystrophy population

Article • Neurology, March 1999, Wolters Kluwer Health

Prof Corrado Angelini
The clinical spectrum of sarcoglycanopathies

Article • Neurology, January 1999, Wolters Kluwer Health

Prof Corrado Angelini
Cardiac transplantation in a Duchenne muscular dystrophy carrier

Article • Neuromuscular Disorders, December 1998, Elsevier

Prof Corrado Angelini
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
Steroids in muscular dystrophy: where do we stand?

Article • Neuromuscular Disorders, August 1998, Elsevier

Prof Corrado Angelini
Laminin 2 muscular dystrophy: Genotype/phenotype studies of 22 patients

Article • Neurology, July 1998, Wolters Kluwer Health

Prof Corrado Angelini
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
Radiological evidence of subclinical dysphagia in motor neuron disease

Article • Journal of Neurology, April 1998, Springer Science + Business Media

Prof Corrado Angelini
Positive correlation of CTG expansion and pharyngoesophageal alterations in myotonic dystrophy patients

Article • The Italian Journal of Neurological Sciences, April 1998, Springer Science + Business Media

Prof Corrado Angelini
Congenital Muscular Dystrophy with Partial Merosin Deficiency and Late Onset Epilepsy

Article • European Neurology, January 1998, Karger Publishers

Prof Corrado Angelini
Mutations of the same sequence of the myelin P0 gene causing two different phenotypes

Article • Human Mutation, January 1998, Wiley

Prof Corrado Angelini
Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations.

Article • Journal of Medical Genetics, December 1997, BMJ

Prof Corrado Angelini
Increased aldosterone levels in acute mountain sickness at Capanna Regina Margherita

Article • Wilderness and Environmental Medicine, November 1997, Elsevier

Prof Corrado Angelini
Long-term cyclosporine treatment in a group of severe myasthenia gravis patients

Article • Journal of Neurology, September 1997, Springer Science + Business Media

Prof Corrado Angelini
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
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
Mutations in the Sarcoglycan Genes in Patients with Myopathy

Article • New England Journal of Medicine, February 1997, New England Journal of Medicine (NEJM/MMS)

Prof Corrado Angelini
Genotype-phenotype correlations of DHP receptor α1-subunit gene mutations causing hypokalemic periodic paralysis

Article • Neuromuscular Disorders, January 1997, Elsevier

Prof Corrado Angelini
Novel mutations and polymorphisms in the human dystrophin gene detected by double-strand conformation analysis

Article • Human Mutation, January 1997, Wiley

Prof Corrado Angelini
Novel mutations and polymorphisms in the human dystrophin gene detected by double‐strand conformation analysis

Article • Human Mutation, January 1997, Wiley

Prof Corrado Angelini
Myocardial Involvement Is Very Frequent Among Patients Affected With Subclinical Becker's Muscular Dystrophy

Article • Circulation, December 1996, Wolters Kluwer Health

Prof Corrado Angelini
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
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
Myotonia and the muscle chloride channel: Dominant mutations show variable penetrance and founder effect

Article • Neurology, October 1996, Wolters Kluwer Health

Prof Corrado Angelini
Cardiac and respiratory involvement in advanced stage Duchenne muscular dystrophy

Article • Neuromuscular Disorders, October 1996, Elsevier

Prof Corrado Angelini
Esophageal motor function in patients with myotonic dystrophy

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

Prof Corrado Angelini
Prognostic factors in mild dystrophinopathies

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

Prof Corrado Angelini
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
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
Discordant clinical outcome in type III spinal muscular atrophy sibships showing the same deletion pattern

Article • Neuromuscular Disorders, August 1996, Elsevier

Prof Corrado Angelini
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
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
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
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
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
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
Skeletal muscle sarcoplasmic reticulum phenotype in myotonic dystrophy

Article • Neuromuscular Disorders, January 1996, Elsevier

Prof Corrado Angelini
Clinical and hormonal aspects of male hypogonadism in myotonic dystrophy

Article • The Italian Journal of Neurological Sciences, January 1996, Springer Science + Business Media

Prof Corrado Angelini
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
Hereditary protein C deficiency associated with riboflavin-responsive lipid storage myopathy

Article • European Journal of Neurology, January 1996, Wiley

Prof Corrado Angelini
Motor Neuron Disease in the Padua District of Italy: An Epidemiological Study

Article • Neuroepidemiology, January 1996, Karger Publishers

Prof Corrado Angelini
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
Dystrophin-positive fibers in duchenne dystrophy: Origin and correlation to clinical course

Article • Muscle & Nerve, October 1995, Wiley

Prof Corrado Angelini
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
Audit of care of acute inflammatory polyradiculoneuropathy in Italy

Article • Pharmacoepidemiology and Drug Safety, May 1995, Wiley

Prof Corrado Angelini
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
Prevalence of unsuspected myopathy in infants presenting for clubfoot surgery

Article • Pediatric Anesthesia, May 1995, Wiley

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

Article • Journal of Medical Genetics, March 1995, BMJ

Prof Corrado Angelini
Discordant clinical outcome in myotonic dystrophy relatives showing (CTG)n > 700 repeats

Article • Neuromuscular Disorders, March 1995, Elsevier

Prof Corrado Angelini
Prenatal diagnosis in congenital muscular dystrophy

Article • The Lancet, March 1995, Elsevier

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

Article • Journal of Neurology, January 1995, Springer Science + Business Media

Prof Corrado Angelini
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
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
Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation

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

Prof Corrado Angelini
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
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
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
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
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
Deflazacort in Duchenne dystrophy: Study of long-term effect

Article • Muscle & Nerve, July 1994, Wiley

Prof Corrado Angelini
Preface

Article • Neuromuscular Disorders, July 1994, Elsevier

Prof Corrado Angelini
Prevalent cardiac involvement in dystrophin Becker type mutation

Article • Neuromuscular Disorders, July 1994, Elsevier

Prof Corrado Angelini
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
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
Deflazacort in Duchenne dystrophy: Study of long-term effect

Article • Muscle & Nerve, April 1994, Wiley

Prof Corrado Angelini
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
Single Muscle Fibre Analyses in 2 Brothers with Succinate Dehydrogenase Deficiency

Article • European Neurology, January 1994, Karger Publishers

Prof Corrado Angelini
Cardiac involvement in becker muscular dystrophy

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

Prof Corrado Angelini
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
(CTG)n Triplet Mutation and Phenotype Manifestations in Myotonic Dystrophy Patients

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

Prof Corrado Angelini
Multifactorial study of inflammatory myopathies. Report of 29 cases

Article • The Italian Journal of Neurological Sciences, February 1993, Springer Science + Business Media

Prof Corrado Angelini
Dystrophin-positive myotubes in innervated muscle cultures from Duchenne and Becker muscular dystrophy patients

Article • Neuromuscular Disorders, January 1993, Elsevier

Prof Corrado Angelini
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
Correlation between clinical and molecular features in two MELAS families

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

Prof Corrado Angelini
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
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
Dystrophinopathy in isolated cases of myopathy in females

Article • Neurology, May 1992, Wolters Kluwer Health

Prof Corrado Angelini
MELAS: Clinical features, biochemistry, and molecular genetics

Article • Annals of Neurology, April 1992, Wiley

Prof Corrado Angelini
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
Cognitive and psychiatric evaluation of 40 patients with myotonic dystrophy

Article • The Italian Journal of Neurological Sciences, February 1992, Springer Science + Business Media

Prof Corrado Angelini
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
Prevalence of dystrophin-positive fibers in 85 duchenne muscular dystrophy patients

Article • Neuromuscular Disorders, January 1992, Elsevier

Prof Corrado Angelini
Variability of the expression of muscle mitochondrial damage in ocular mitochondrial myopathy

Article • Neuromuscular Disorders, January 1992, Elsevier

Prof Corrado Angelini
Epidemiology of Spinal Muscular Atrophies in a Sample of the Italian Population

Article • Neuroepidemiology, January 1992, Karger Publishers

Prof Corrado Angelini
l-Carnitine uptake in differentiating human cultured muscle

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

Prof Corrado Angelini
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
Muscle carnitine deficiency in patients with severe peripheral vascular disease.

Article • Circulation, October 1991, Wolters Kluwer Health

Prof Corrado Angelini
Congenital muscular dystrophy: brain alterations in an unselected series of Western patients.

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

Prof Corrado Angelini
MYOTONIC DYSTROPHY

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

Prof Corrado Angelini
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
A multicentre follow-up study of 1152 patients with myasthenia gravis in Italy

Article • Journal of Neurology, October 1990, Springer Science + Business Media

Prof Corrado Angelini
7 Defects of fatty-acid oxidation in muscle

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

Prof Corrado Angelini
Enormous dystrophin in a patient with Becker muscular dystrophy

Article • Neurology, May 1990, Wolters Kluwer Health

Prof Corrado Angelini
Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q

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

Prof Corrado Angelini
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
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
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
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
CROSS-REACTIVE PROTEIN IN DUCHENNE MUSCLE

Article • The Lancet, November 1989, Elsevier

Prof Corrado Angelini
Improved diagnosis of Becker muscular dystrophy by dystrophin testing

Article • Neurology, August 1989, Wolters Kluwer Health

Prof Corrado Angelini
Muscle glycerol kinase in Duchenne dystrophy and glycerol kinase deficiency

Article • Muscle & Nerve, April 1989, Wiley

Prof Corrado Angelini
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
Myosin heavy chain composition of muscle fibers in spinal muscular atrophy

Article • Muscle & Nerve, January 1989, Wiley

Prof Corrado Angelini
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
Psychiatric disturbances associated with myasthenia gravis

Article • Acta Psychiatrica Scandinavica, April 1988, Wiley

Prof Corrado Angelini
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
Glucose and ketone body turnover in carnitine-palmitoyl-transferase deficiency

Article • Metabolism, September 1987, Elsevier

Prof Corrado Angelini
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
Population data on benign and severe forms of X-linked muscular dystrophy

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

Prof Corrado Angelini
Clinical varieties of carnitine and carnitine palmitoyltransferase deficiency

Article • Clinical Biochemistry, February 1987, Elsevier

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

Article • Neurology, January 1987, Wolters Kluwer Health

Prof Corrado Angelini
Genetic epidemiology of myotonic dystrophy

Article • Genetic Epidemiology, January 1987, Wiley

Prof Corrado Angelini
Myotonic dystrophy and chromosome translocation segregating in the same family

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

Prof Corrado Angelini
Toxic myopathy induced by industrial minerals oils: Clinical and histopathological features

Article • The Italian Journal of Neurological Sciences, December 1986, Springer Science + Business Media

Prof Corrado Angelini
Childhood encephalomyopathy with cytochrome c oxidase deficiency, ataxia, muscle wasting, and mental impairment

Article • Neurology, August 1986, Wolters Kluwer Health

Prof Corrado Angelini
Malonyl-CoA Abnormal Inhibition of Residual Enzyme Activity in Carnitine Palmitoyltransferase Deficiency

Article • European Neurology, January 1986, Karger Publishers

Prof Corrado Angelini
Sensory, Motor, and Autonomic Neuropathy in Patients with Multiple Symmetric Lipomatosis

Article • Medicine, November 1985, Wolters Kluwer Health

Prof Corrado Angelini
Carnitine deficiency, organic acidemias, and Reye's syndrome

Article • Neurology, July 1985, Wolters Kluwer Health

Prof Corrado Angelini
Familial neuromuscular disease with tubular aggregates

Article • Muscle & Nerve, May 1985, Wiley

Prof Corrado Angelini
Tubular aggregates: Sarcoplasmic reticulum origin, calcium storage ability, and functional implications

Article • Muscle & Nerve, May 1985, Wiley

Prof Corrado Angelini
Carnitine and acyltransferase in experimental neurogenic atrophies: changes with treatment

Article • Journal of Neurology, October 1984, Springer Science + Business Media

Prof Corrado Angelini
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
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
Carnitine, carnitine acyltransferases, and rat brain function

Article • Experimental Neurology, November 1982, Elsevier

Prof Corrado Angelini
Autoimmune neuromuscular disease induced by a preparation of choline acetyltransferase

Article • Experimental Neurology, January 1982, Elsevier

Prof Corrado Angelini
Peroneal muscular atrophy with ataxia and partial myoclonic epilepsy

Article • Journal of Neurology, September 1981, Springer Science + Business Media

Prof Corrado Angelini
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
Carnitine palmityl transferase deficiency: Clinical variability, carrier detection, and autosomal-recessive inheritance

Article • Neurology, July 1981, Wolters Kluwer Health

Prof Corrado Angelini
Myopathological Findings in Progressive Myoclonus Epilepsy

Article • January 1981, Springer Science + Business Media

Prof Corrado Angelini
Systemic Carnitine Deficiency — A Treatable Inherited Lipid-Storage Disease Presenting as Reye's Syndrome

Article • New England Journal of Medicine, December 1980, New England Journal of Medicine (NEJM/MMS)

Prof Corrado Angelini
Plasma and Urine Carnitine Levels During Development

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

Prof Corrado Angelini
Abnormal myomuscular junctions and AChE in a congenital neuromuscular disease

Article • Muscle & Nerve, May 1980, Wiley

Prof Corrado Angelini
Duchenne muscular dystrophy

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

Prof Corrado Angelini
Free and acyl-carnitines in human milk and colostrum: 89

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

Prof Corrado Angelini
Multisystem triglyceride storage disorder with impaired long-chain fatty acid oxidation

Article • Annals of Neurology, January 1980, Wiley

Prof Corrado Angelini
Assessment of the value of thymic scan in myasthenia gravis

Article • Journal of Neurology, January 1979, Springer Science + Business Media

Prof Corrado Angelini
Carnitine deficiency: Acute postpartum crisis

Article • Annals of Neurology, December 1978, Wiley

Prof Corrado Angelini
CARNITINE DEFICIENCY INDUCED DURING HÆMODIALYSIS

Article • The Lancet, April 1978, Elsevier

Prof Corrado Angelini
Duchenne muscular dystrophy

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

Prof Corrado Angelini
DUCHENNE CARRIER DETECTION

Article • The Lancet, August 1976, Elsevier

Prof Corrado Angelini
Carnitine deficiency of skeletal muscle: Report of a treated case

Article • Neurology, July 1976, Wolters Kluwer Health

Prof Corrado Angelini
DUCHENNE CARRIER DETECTION

Article • The Lancet, July 1976, Elsevier

Prof Corrado Angelini
Lipid storage myopathies

Article • Journal of Neurology, January 1976, Springer Science + Business Media

Prof Corrado Angelini
CARNITINE DEFICIENCY

Article • The Lancet, September 1975, Elsevier

Prof Corrado Angelini
Geographic distribution of hereditary myopathies in northeast Italy

Article • Social Biology, September 1974, Taylor & Francis

Prof Corrado Angelini
Mitochondria-Lipid-Glycogen (MLG) Disease of Muscle

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

Prof Corrado Angelini
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
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
Adult Acid Maltase Deficiency

Article • New England Journal of Medicine, November 1972, New England Journal of Medicine (NEJM/MMS)

Prof Corrado Angelini
Comparative Study of Acid Maltase Deficiency

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

Prof Corrado Angelini
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
Early ultrastructural and biochemical changes in muscle in dystrophia myotonica

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

Prof Corrado Angelini
Enzymes of the glycogen cycle and glycolysis in various human neuromuscular disorders.

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

Prof Corrado Angelini

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