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  1. Metabolomics of Multiple System Atrophy Patient-Derived Striatal Medium Spiny Neurons

    Article • Biomolecules, January 2026, MDPI AG

    Alessio Di Fonzo

  2. Sex-Independent Upregulation of miR-146a-5p in Parkinson’s Disease Patients: A Longitudinal Study

    Article • International Journal of Molecular Sciences, October 2025, MDPI AG

    Alessio Di Fonzo

  3. The Emotional Landscape of Multiple System Atrophy: A Preliminary Personality-Based Perspective

    Article • Journal of Clinical Medicine, October 2025, MDPI AG

    Alessio Di Fonzo

  4. Artificial Intelligence Predicts GBA1 Mutated Status in Parkinson's Disease Patients

    Article • Movement Disorders Clinical Practice, September 2025, Wiley

    Alessio Di Fonzo

  5. Proteomics of Patient-Derived Striatal Medium Spiny Neurons in Multiple System Atrophy

    Article • Cells, September 2025, MDPI AG

    Alessio Di Fonzo

  6. A Twisting Diagnosis: A New Case of VPS16‐Related Hyperkinetic Spectrum and Literature Review

    Article • Movement Disorders Clinical Practice, August 2025, Wiley

    Alessio Di Fonzo

  7. Effects of GBA1 Variants in Patients With Parkinson's Disease and Levodopa–Carbidopa Intestinal Gel: A Nation‐Wide, Multicenter, Longitudinal, “Real‐World” Study. The EPIC Study

    Article • European Journal of Neurology, July 2025, Wiley

    Prof. Cristoforo Comi, Alessio Di Fonzo

  8. RAB32-linked Parkinson’s disease: Deep phenotyping, MDSGene literature review, and application of SynNeurGe criteria

    Article • June 2025, Cold Spring Harbor Laboratory Press

    Alessio Di Fonzo

  9. Disease-modifying therapy in GBA1-related Parkinson's disease: the type of variant matters

    Article • Parkinsonism & Related Disorders, June 2025, Elsevier

    Alessio Di Fonzo

  10. Gender Is the Main Predictor of Wearing‐Off and Dyskinesia in Levodopa‐Naïve Patients with Parkinson's Disease

    Article • Movement Disorders Clinical Practice, May 2025, Wiley

    Alessio Di Fonzo

  11. LONG-NEXT: A new accurate and efficient NGS-based method for GBA1 analysis in Parkinson disease

    Article • Parkinsonism & Related Disorders, May 2025, Elsevier

    Alessio Di Fonzo

  12. 18F-FDG PET findings in Parkinson's disease associated to RAB32 S71R variant

    Article • Parkinsonism & Related Disorders, May 2025, Elsevier

    Alessio Di Fonzo

  13. Reply: “Enhancing Parkinson's Disease Research: Recommendations for Addressing Genetic and Environmental Influences in Family History Studies”

    Article • Movement Disorders Clinical Practice, April 2025, Wiley

    Alessio Di Fonzo

  14. The Genetic Epidemiology of Parkinson's Disease view

    Article • The Lancet Neurology, April 2025, Elsevier

    Alessio Di Fonzo

  15. Adult‐Onset Dystonia‐Parkinsonism: Do Not Forget SERAC1

    Article • Movement Disorders Clinical Practice, March 2025, Wiley

    Alessio Di Fonzo

  16. Coenzyme Q10 deficiency disrupts lipid metabolism by altering cholesterol homeostasis in neurons

    Article • Free Radical Biology and Medicine, March 2025, Elsevier

    Alessio Di Fonzo

  17. A De Novo SCN2A Variant in a Patient with Adult‐Onset Dystonia Parkinsonism and Nigrostriatal Denervation

    Article • Movement Disorders Clinical Practice, February 2025, Wiley

    Alessio Di Fonzo

  18. Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia

    Article • Brain, February 2025, Oxford University Press (OUP)

    Alessio Di Fonzo

  19. Oxidative Stress: A New Pathophysiological Pathway in Parkinson’s Disease and a Potential Target of the Brain‐Sport Crosstalk

    Article • Parkinson s Disease, January 2025, Wiley

    Alessio Di Fonzo

  20. Distinctive cognitive phenotypes in Parkinson’s disease patients with GBA mutations and without dementia: a multicentre cross-sectional retrospective study

    Article • Clinical Parkinsonism & Related Disorders, January 2025, Elsevier

    Alessio Di Fonzo

  21. Long-term motor and cognitive outcome of Deep Brain Stimulation in GBA-PD: the Italian PARKNET study

    Article • December 2024, Cold Spring Harbor Laboratory Press

    Alessio Di Fonzo, Carlo Alberto Artusi

  22. Childhood-onset focal epilepsy and acute para-infectious encephalopathy in a patient with biallelic QARS1 variants

    Article • Neurological Sciences, December 2024, Springer Science + Business Media

    Alessio Di Fonzo

  23. Lewy pathology formation in patient-derived GBA1 Parkinson’s disease midbrain organoids

    Article • Brain, November 2024, Oxford University Press (OUP)

    Alessio Di Fonzo

  24. RAB32 mutation in Parkinson's disease

    Article • The Lancet Neurology, October 2024, Elsevier

    Alessio Di Fonzo

  25. RAB32 mutation in Parkinson's disease

    Article • The Lancet Neurology, October 2024, Elsevier

    Alessio Di Fonzo

  26. Dystonic Tremor as Main Clinical Manifestation of SCA21

    Article • Movement Disorders Clinical Practice, September 2024, Wiley

    Alessio Di Fonzo

  27. Obsessive-compulsive disorder as a first manifestation of Ataxia with Oculomotor Apraxia type 2 due to a novel mutation of SETX gene

    Article • Neurological Sciences, September 2024, Springer Science + Business Media

    Alessio Di Fonzo

  28. Neurosteroid Levels in GBA Mutated and Non-Mutated Parkinson’s Disease: A Possible Factor Influencing Clinical Phenotype?

    Article • Biomolecules, August 2024, MDPI AG

    Alessio Di Fonzo

  29. Neurosteroid Levels in GBA and Non-mutated PD: A Possible Factor Influencing Clinical Phenotype?

    Article • July 2024, MDPI AG

    Alessio Di Fonzo

  30. Increased glucosylsphingosine levels and Gaucher disease in GBA1-associated Parkinson's disease

    Article • Parkinsonism & Related Disorders, July 2024, Elsevier

    Alessio Di Fonzo

  31. The p.Val234Met LRP10 likely pathogenic variant associated with Parkinson's disease: Possible molecular implications

    Article • Parkinsonism & Related Disorders, June 2024, Elsevier

    Alessio Di Fonzo

  32. Supplementing Best Care with Specialized Rehabilitation Treatment in Parkinson’s Disease: A Retrospective Study by Different Expert Centers

    Article • Journal of Clinical Medicine, May 2024, MDPI AG

    Alessio Di Fonzo

  33. Soft cerebellar signs unveil RARS2‐related epilepsy

    Article • Epileptic Disorders, May 2024, Wiley

    Alessio Di Fonzo

  34. A Case of 18p Chromosomal Deletion Encompassing GNAL in a Patient With Dystonia-Parkinsonism

    Article • Journal of Movement Disorders, April 2024, The Korean Movement Disorder Society

    Alessio Di Fonzo

  35. Unleashing the potential of mRNA therapeutics for inherited neurological diseases

    Article • Brain, April 2024, Oxford University Press (OUP)

    Alessio Di Fonzo

  36. Comparing Essential Tremor with and without Soft Dystonic Signs and Tremor Combined with Dystonia: The TITAN Study

    Article • Movement Disorders Clinical Practice, April 2024, Wiley

    Alessio Di Fonzo

  37. Genotype–phenotype correlation in PRKN-associated Parkinson’s disease

    Article • npj Parkinson s Disease, March 2024, Springer Science + Business Media

    Alessio Di Fonzo

  38. A Novel Pathogenic PSEN1 Variant in a Patient With Dystonia-Parkinsonism Without Dementia

    Article • Journal of Movement Disorders, January 2024, The Korean Movement Disorder Society

    Alessio Di Fonzo

  39. Genetics in Parkinson’s disease, state-of-the-art and future perspectives

    Article • British Medical Bulletin, January 2024, Oxford University Press (OUP)

    Alessio Di Fonzo

  40. Response to: Are there two disjunct episignatures for KMT2B-related disease?

    Article • Brain Communications, January 2024, Oxford University Press (OUP)

    Alessio Di Fonzo

  41. Investigating the prevalence of MFN2 mutations in amyotrophic lateral sclerosis: insights from an Italian cohort

    Article • Brain Communications, January 2024, Oxford University Press (OUP)

    Alessio Di Fonzo

  42. Dominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia

    Article • Movement Disorders Clinical Practice, December 2023, Wiley

    Alessio Di Fonzo

  43. Are patients with GBA–Parkinson disease good candidates for deep brain stimulation? A longitudinal multicentric study on a large Italian cohort

    Article • Journal of Neurology Neurosurgery & Psychiatry, October 2023, BMJ

    Alessio Di Fonzo, Carlo Alberto Artusi

  44. Speech, Gait, and Vestibular Function in Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome

    Article • Brain Sciences, October 2023, MDPI AG

    Alessio Di Fonzo

  45. Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study

    Article • Movement Disorders, September 2023, Wiley

    Alessio Di Fonzo

  46. Editorial: Genetic advances and translational applications in movement disorders

    Article • Frontiers in Neurology, September 2023, Frontiers

    Alessio Di Fonzo

  47. Clinical correlates of “pure” essential tremor: the TITAN study

    Article • Frontiers in Neurology, August 2023, Frontiers

    Alessio Di Fonzo

  48. GABRB1‐related early onset developmental and epileptic encephalopathy: Clinical trajectory and novel de novo mutation

    Article • Epileptic Disorders, August 2023, Wiley

    Alessio Di Fonzo

  49. Chorea‐Acanthocytosis Presenting with Parkinsonism‐Dystonia without Chorea

    Article • Movement Disorders Clinical Practice, August 2023, Wiley

    Alessio Di Fonzo

  50. Levodopa responsive asymmetric parkinsonism as clinical presentation of progranulin gene mutation.

    Article • Journal of the Neurological Sciences, August 2023, Elsevier

    Alessio Di Fonzo

  51. Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction

    Article • Movement Disorders, July 2023, Wiley

    Alessio Di Fonzo

  52. Don’t forget Allgrove syndrome in adult patients as a bulbar-ALS mimicker

    Article • Neurological Sciences, July 2023, Springer Science + Business Media

    Alessio Di Fonzo

  53. The unexpected finding of CNS autoantibodies in GBA1 mutation carriers with atypical parkinsonism

    Article • Journal of Neuropathology & Experimental Neurology, July 2023, Oxford University Press (OUP)

    Alessio Di Fonzo

  54. A form of inherited hyperferritinemia associated with bi-allelic pathogenic variants of STAB1

    Article • The American Journal of Human Genetics, July 2023, Elsevier

    Alessio Di Fonzo

  55. SCARB1 downregulation in adrenal insufficiency with Allgrove syndrome

    Article • Orphanet Journal of Rare Diseases, June 2023, Springer Science + Business Media

    Alessio Di Fonzo

  56. Kufor Rakeb syndrome without gaze palsy and pyramidal signs due to novel ATP13A2 mutations

    Article • Neurological Sciences, June 2023, Springer Science + Business Media

    Alessio Di Fonzo

  57. Neuronopathic Gaucher disease models reveal defects in cell growth promoted by Hippo pathway activation

    Article • Communications Biology, April 2023, Springer Science + Business Media

    Alessio Di Fonzo

  58. Reply to: “Lack of Association between TWNK Rare Variants and Parkinson's Disease in a Chinese Cohort”

    Article • Movement Disorders, April 2023, Wiley

    Alessio Di Fonzo

  59. Genetic Evidence for Endolysosomal Dysfunction in Parkinson’s Disease: A Critical Overview

    Article • International Journal of Molecular Sciences, March 2023, MDPI AG

    Alessio Di Fonzo

  60. Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency

    Article • Neurology Genetics, March 2023, Wolters Kluwer Health

    Alessio Di Fonzo

  61. Deconstructing speech alterations in episodic ataxia type 2: Perceptual-acoustic analysis in a case due to CACNA1A gene mutation

    Article • Parkinsonism & Related Disorders, March 2023, Elsevier

    Alessio Di Fonzo

  62. Recent Advances in the Treatment of Genetic Forms of Parkinson’s Disease: Hype or Hope?

    Article • Cells, February 2023, MDPI AG

    Alessio Di Fonzo

  63. Levodopa Equivalent Dose of Safinamide: A Multicenter, Longitudinal, Case–Control Study

    Article • Movement Disorders Clinical Practice, February 2023, Wiley

    Alessio Di Fonzo, Prof. Cristoforo Comi

  64. iPSC-Derived Striatal Medium Spiny Neurons from Patients with Multiple System Atrophy Show Hypoexcitability and Elevated α-Synuclein Release

    Article • Cells, January 2023, MDPI AG

    Alessio Di Fonzo

  65. Oligomeric α-synuclein and tau aggregates in NDEVs differentiate Parkinson's disease from atypical parkinsonisms

    Article • Neurobiology of Disease, January 2023, Elsevier

    Alessio Di Fonzo

  66. Tremulous spastic ataxia in a patient with a homozygous truncating SYNE1 variant

    Article • Clinical Parkinsonism & Related Disorders, January 2023, Elsevier

    Alessio Di Fonzo

  67. Verbal Learning Impairment in Parkinson’s Disease: Role of the Frontostriatal System in Working and Strategic Memory

    Article • Neurodegenerative Diseases, January 2023, Karger Publishers

    Alessio Di Fonzo

  68. Early-onset inherited dystonias versus late-onset idiopathic dystonias: Same or different biological mechanisms?

    Article • January 2023, Elsevier

    Alessio Di Fonzo

  69. Two cases of Huntington’s disease unmasked by the COVID-19 pandemic

    Article • Neurological Sciences, December 2022, Springer Science + Business Media

    Alessio Di Fonzo

  70. A sensitive method for determining UDP-glucose: ceramide glucosyltransferase (UGCG) activity in biological samples using deuterated glucosylceramide as acceptor substrate

    Article • Glycobiology, December 2022, Oxford University Press (OUP)

    Alessio Di Fonzo

  71. Anderson–Fabry Disease: A New Piece of the Lysosomal Puzzle in Parkinson Disease?

    Article • Biomedicines, December 2022, MDPI AG

    Alessio Di Fonzo

  72. BiallelicSTAB1pathogenic variants cause hereditary hyperferritinemia

    Article • November 2022, Cold Spring Harbor Laboratory Press

    Alessio Di Fonzo

  73. Nuclear Pore Complex Dysfunction in Dystonia Pathogenesis: Nucleoporins in the Spotlight

    Article • Movement Disorders, November 2022, Wiley

    Alessio Di Fonzo

  74. Approaching the Gut and Nasal Microbiota in Parkinson’s Disease in the Era of the Seed Amplification Assays

    Article • Brain Sciences, November 2022, MDPI AG

    Alessio Di Fonzo

  75. SCARB1 downregulation in adrenal insufficiency with Allgrove Syndrome

    Article • November 2022, Research Square

    Alessio Di Fonzo

  76. Reply to: No Association between Rare TWNK Variants and Parkinson's Disease in European Cohorts

    Article • Movement Disorders, November 2022, Wiley

    Alessio Di Fonzo

  77. Adult-onset KMT2B-related dystonia

    Article • Brain Communications, October 2022, Oxford University Press (OUP)

    Alessio Di Fonzo

  78. A Bayesian approach to Essential Tremor plus: A preliminary analysis of the TITAN cohort

    Article • Parkinsonism & Related Disorders, October 2022, Elsevier

    Alessio Di Fonzo

  79. Juvenile-onset dystonia with spasticity in Leigh syndrome caused by a novel NDUFA10 variant

    Article • Parkinsonism & Related Disorders, October 2022, Elsevier

    Alessio Di Fonzo

  80. Transcriptome deregulation of peripheral monocytes and whole blood in GBA-related Parkinson’s disease

    Article • Molecular Neurodegeneration, August 2022, Springer Science + Business Media

    Alessio Di Fonzo

  81. Trial of Cinpanemab in Early Parkinson’s Disease

    Article • The New England Journal of Medicine and Surgery and the Collateral Branches of Science, August 2022, New England Journal of Medicine (NEJM/MMS)

    Alessio Di Fonzo

  82. β-Glucocerebrosidase Deficiency Activates an Aberrant Lysosome-Plasma Membrane Axis Responsible for the Onset of Neurodegeneration

    Article • Cells, July 2022, MDPI AG

    Alessio Di Fonzo

  83. Changes in non-motor symptoms in patients with Parkinson's disease following COVID-19 pandemic restrictions: A systematic review

    Article • Frontiers in Psychology, July 2022, Frontiers

    Alessio Di Fonzo

  84. LRRK2 kinase activity regulates GCase level and enzymatic activity differently depending on cell type in Parkinson’s disease

    Article • npj Parkinson s Disease, July 2022, Springer Science + Business Media

    Alessio Di Fonzo

  85. Case Report: Effect of Targeted Therapy With Carbamazepine in KCNQ2 Neonatal Epilepsy

    Article • Frontiers in Neurology, July 2022, Frontiers

    Alessio Di Fonzo

  86. TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study

    Article • Movement Disorders, July 2022, Wiley

    Alessio Di Fonzo

  87. The apparent paradox of phenotypic diversity and shared mechanisms across dystonia syndromes

    Article • Current Opinion in Neurology, July 2022, Wolters Kluwer Health

    Alessio Di Fonzo

  88. Axial improvement after casirivimab/imdevimab treatment for COVID-19 in Parkinson Disease

    Article • Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, June 2022, Cambridge University Press

    Alessio Di Fonzo

  89. Correction to: The Italian tremor Network (TITAN): rationale, design and preliminary findings

    Article • Neurological Sciences, June 2022, Springer Science + Business Media

    Alessio Di Fonzo

  90. Cognitive and Autonomic Dysfunction in Multiple System Atrophy Type P and C: A Comparative Study

    Article • Frontiers in Neurology, June 2022, Frontiers

    Alessio Di Fonzo

  91. Genetic evaluation in phenotypically discordant monozygotic twins with Coats Disease

    Article • European Journal of Ophthalmology, June 2022, SAGE Publications

    Alessio Di Fonzo

  92. The Italian tremor Network (TITAN): rationale, design and preliminary findings

    Article • Neurological Sciences, May 2022, Springer Science + Business Media

    Alessio Di Fonzo

  93. Clinical uses of Bupropion in patients with Parkinson’s disease and comorbid depressive or neuropsychiatric symptoms: a scoping review

    Article • BMC Neurology, May 2022, Springer Science + Business Media

    Alessio Di Fonzo

  94. Progressive myoclonus without epilepsy due to a NUS1 frameshift insertion: Dyssynergia cerebellaris myoclonica revisited

    Article • Parkinsonism & Related Disorders, May 2022, Elsevier

    Alessio Di Fonzo

  95. Dysautonomia in Parkinson’s Disease: Impact of Glucocerebrosidase Gene Mutations on Cardiovascular Autonomic Control

    Article • Frontiers in Neuroscience, March 2022, Frontiers

    Alessio Di Fonzo

  96. Transcriptomic characterization of tissues from patients and subsequent pathway analyses reveal biological pathways that are implicated in spastic ataxia

    Article • Cell & Bioscience, March 2022, Springer Science + Business Media

    Alessio Di Fonzo, Professor Kyproula Christodoulou

  97. Role of Lysosomal Gene Variants in Modulating GBA ‐Associated Parkinson's Disease Risk

    Article • Movement Disorders, March 2022, Wiley

    Alessio Di Fonzo

  98. A Practical Approach to Early-Onset Parkinsonism

    Article • Journal of Parkinson’s Disease, January 2022, IOS Press

    Alessio Di Fonzo

  99. Freezing of gait: overview on etiology, treatment, and future directions

    Article • Neurological Sciences, January 2022, Springer Science + Business Media

    Alessio Di Fonzo

  100. VPS13C-associated Parkinson's disease: Two novel cases and review of the literature

    Article • Parkinsonism & Related Disorders, January 2022, Elsevier

    Alessio Di Fonzo

  101. Transcriptome deregulation of peripheral monocytes in GBA-related Parkinson’s disease

    Article • December 2021, Cold Spring Harbor Laboratory Press

    Alessio Di Fonzo

  102. Discrimination of MSA-P and MSA-C by RT-QuIC analysis of olfactory mucosa: the first assessment of assay reproducibility between two specialized laboratories

    Article • Molecular Neurodegeneration, December 2021, Springer Science + Business Media

    Alessio Di Fonzo

  103. Parkinsonism and ataxia

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

    Alessio Di Fonzo

  104. The activities of LRRK2 and GCase are positively correlated in clinical biospecimens and experimental models of Parkinson’s disease

    Article • September 2021, Cold Spring Harbor Laboratory Press

    Alessio Di Fonzo

  105. A 79-year-old man with unexplained recurrent syncope and severe orthostatic hypotension

    Article • Internal and Emergency Medicine, September 2021, Springer Science + Business Media

    Alessio Di Fonzo

  106. Sodium Levels Predict Disability at Discharge in Guillain-Barré Syndrome: A Retrospective Cohort Study

    Article • Frontiers in Neurology, September 2021, Frontiers

    Alessio Di Fonzo

  107. Screening of LRP10 mutations in Parkinson's disease patients from Italy

    Article • Parkinsonism & Related Disorders, August 2021, Elsevier

    Alessio Di Fonzo

  108. Motor and cognitive outcomes of cerebello-spinal stimulation in neurodegenerative ataxia

    Article • Brain, May 2021, Oxford University Press (OUP)

    Alessio Di Fonzo

  109. HOPS-associated neurological disorders (HOPSANDs): linking endolysosomal dysfunction to the pathogenesis of dystonia

    Article • Brain, April 2021, Oxford University Press (OUP)

    Alessio Di Fonzo

  110. Genetic variants in levodopa-induced dyskinesia (LID): A systematic review and meta-analysis

    Article • Parkinsonism & Related Disorders, March 2021, Elsevier

    Alessio Di Fonzo

  111. Targeting the Autonomic Nervous System for Risk Stratification, Outcome Prediction and Neuromodulation in Ischemic Stroke

    Article • International Journal of Molecular Sciences, February 2021, MDPI AG

    Alessio Di Fonzo

  112. Clinical features and disease course of patients with acute ischaemic stroke just before the Italian index case: Was COVID-19 already there?

    Article • Internal and Emergency Medicine, February 2021, Springer Science + Business Media

    Alessio Di Fonzo

  113. A novel homozygous VPS11 variant may cause generalized dystonia

    Article • Annals of Neurology, January 2021, Wiley

    Alessio Di Fonzo

  114. Unravelling Genetic Factors Underlying Corticobasal Syndrome: A Systematic Review

    Article • Cells, January 2021, MDPI AG

    Alessio Di Fonzo

  115. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1

    Article • Autophagy, January 2021, Taylor & Francis

    MD, PhD Pierre-Louis Tharaux, Joilson O. Martins, Dr. rer. nat. Marc Herb, Dr Marcia R Cominetti, Alessio Di Fonzo, Christoph Gerhardt, Dr Mustafa Sahin, Dr Cinzia Volonté, Dr Marc Etienne Poirot, Professor Paula I. Moreira, Executive Director, The Hormel Institute Robert Clarke, Prof Robert Bryson-Richardson, Professor Hyun Kyu Song, Prof Claudia Cavadas, Professor Po Sing Leung, Paula Ludovico, Javeed Shah, Prof. Dr. Giovanni Di Guardo, Dr Takeshi Noda, Professor Tullio Florio, Professor Kevin Coombs, Ning Chen, Maria Vaccaro, Dr Jorge F Quarleri, Professor hengyi xiao, Dr. Yanzhuang Wang, Prof Giacinto Bagetta, Dr. Ann M Wehman, Dr Pawan Sharma, Dr Anna Krasnodembskaya, Dr Francesca Finetti, Nicoletta Filigheddu, Professor Javier González-Gallego, Professor Günther Weindl, Professor Nektarios Tavernarakis

  116. Expanding the genotypic and phenotypic spectrum of Beta‐propeller potein‐associated neurodegeneration

    Article • European Journal of Neurology, December 2020, Wiley

    Alessio Di Fonzo

  117. A case report of late-onset cerebellar ataxia associated with a rare p.R342W TGM6 (SCA35) mutation

    Article • BMC Neurology, November 2020, Springer Science + Business Media

    Alessio Di Fonzo

  118. A rapid and low-cost test for screening the most common Parkinson's disease-related GBA variants

    Article • Parkinsonism & Related Disorders, November 2020, Elsevier

    Alessio Di Fonzo

  119. Pharmacological antagonism of kainate receptor rescues dysfunction and loss of dopamine neurons in a mouse model of human parkin-induced toxicity

    Article • Cell Death and Disease, November 2020, Springer Science + Business Media

    Alessio Di Fonzo

  120. The SPID-GBA study

    Article • Neurology Genetics, October 2020, Wolters Kluwer Health

    Alessio Di Fonzo

  121. Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum

    Article • American Journal of Medical Genetics Part A, October 2020, Wiley

    Alessio Di Fonzo

  122. Parkinson’s disease in Gaucher disease patients: what’s changing in the counseling and management of patients and their relatives?

    Article • Orphanet Journal of Rare Diseases, September 2020, Springer Science + Business Media

    Alessio Di Fonzo

  123. Comprehensive Genomic Analysis Reveals the Prognostic Role of LRRK2 Copy-Number Variations in Human Malignancies

    Article • Genes, July 2020, MDPI AG

    Alessio Di Fonzo

  124. GBA ‐Related Parkinson's Disease: Dissection of Genotype–Phenotype Correlates in a Large Italian Cohort

    Article • Movement Disorders, July 2020, Wiley

    Alessio Di Fonzo

  125. Late-onset leukoencephalopathy in a patient with recessive EARS2 mutations

    Article • Neurology Genetics, July 2020, Wolters Kluwer Health

    Alessio Di Fonzo

  126. Nucleo–cytoplasmic transport defects and protein aggregates in neurodegeneration

    Article • Translational Neurodegeneration, July 2020, Springer Science + Business Media

    Alessio Di Fonzo

  127. Design and Operation of the Lombardy Parkinson's Disease Network

    Article • Frontiers in Neurology, June 2020, Frontiers

    Alessio Di Fonzo

  128. Pharmacological Antagonism of Kainate Receptor Rescues Dysfunction and Loss of Dopamine Neurons in a Mouse Model of Human Parkin-induced Toxicity 

    Article • June 2020, Research Square

    Alessio Di Fonzo

  129. The Role of Mitochondria in Neurodegenerative Diseases: the Lesson from Alzheimer’s Disease and Parkinson’s Disease

    Article • Molecular Neurobiology, May 2020, Springer Science + Business Media

    Alessio Di Fonzo

  130. Systemic involvement in adult‐onset leukoencephalopathy with intracranial calcifications and cysts (Labrune syndrome) with a novel mutation of SNORD118 gene

    Article • European Journal of Neurology, May 2020, Wiley

    Alessio Di Fonzo

  131. SLC25A46 mutations in patients with Parkinson's Disease and optic atrophy

    Article • Parkinsonism & Related Disorders, May 2020, Elsevier

    Alessio Di Fonzo

  132. Microscopic Polyangiitis With Selective Involvement of Central and Peripheral Nervous System: A Case Report

    Article • Frontiers in Neurology, April 2020, Frontiers

    Alessio Di Fonzo

  133. Dystonia‐ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency

    Article • Annals of Clinical and Translational Neurology, April 2020, Wiley

    Alessio Di Fonzo

  134. Childhood onset dystonia with cerebellar signs: expanding the spectrum of GNAL mutations

    Article • European Journal of Neurology, March 2020, Wiley

    Alessio Di Fonzo

  135. Loss of the nucleoporin Aladin in central nervous system and fibroblasts of Allgrove Syndrome

    Article • Human Molecular Genetics, October 2019, Oxford University Press (OUP)

    Alessio Di Fonzo

  136. Validation of the Italian version of the PSP Quality of Life questionnaire

    Article • Neurological Sciences, July 2019, Springer Science + Business Media

    Alessio Di Fonzo

  137. Understanding the pathogenesis of multiple system atrophy: state of the art and future perspectives

    Article • Acta Neuropathologica Communications, July 2019, Springer Science + Business Media

    Alessio Di Fonzo

  138. Validation of the Italian version of carers’ quality-of-life questionnaire for parkinsonism (PQoL Carer) in progressive supranuclear palsy

    Article • Neurological Sciences, June 2019, Springer Science + Business Media

    Alessio Di Fonzo

  139. Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathy

    Article • Parkinsonism & Related Disorders, June 2019, Elsevier

    Alessio Di Fonzo

  140. GBA, Gaucher Disease, and Parkinson’s Disease: From Genetic to Clinic to New Therapeutic Approaches

    Article • Cells, April 2019, MDPI AG

    Alessio Di Fonzo

  141. Parkinsonism in diseases predominantly presenting with dystonia

    Article • January 2019, Elsevier

    Alessio Di Fonzo

  142. Spinal direct current stimulation (tsDCS) in hereditary spastic paraplegias (HSP): A sham-controlled crossover study

    Article • Journal of Spinal Cord Medicine, December 2018, Taylor & Francis

    Martina Nigro, Alessio Di Fonzo, Ilaria Cova

  143. Mitochondrial dysfunction in fibroblasts of Multiple System Atrophy

    Article • Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, December 2018, Elsevier

    Alessio Di Fonzo

  144. Mitochondrial Dysregulation and Impaired Autophagy in iPSC-Derived Dopaminergic Neurons of Multiple System Atrophy

    Article • Stem Cell Reports, November 2018, Elsevier

    Alessio Di Fonzo

  145. LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies: a genome-wide linkage and sequencing study

    Article • The Lancet Neurology, July 2018, Elsevier

    Professor Piero Parchi, Alessio Di Fonzo, Prof. Cristoforo Comi, Dr ir Wilfred van IJcken

  146. Genetics of Movement Disorders and the Practicing Clinician; Who and What to Test for?

    Article • Current Neurology and Neuroscience Reports, May 2018, Springer Science + Business Media

    Alessio Di Fonzo

  147. Syncope and autonomic failure in a middle-aged man

    Article • Internal and Emergency Medicine, May 2018, Springer Science + Business Media

    Alessio Di Fonzo

  148. The Length of SNCA Rep1 Microsatellite May Influence Cognitive Evolution in Parkinson’s Disease

    Article • Frontiers in Neurology, March 2018, Frontiers

    Prof. Cristoforo Comi, Alessio Di Fonzo

  149. Clinical Reasoning: A 75-year-old man with parkinsonism, mood depression, and weight loss

    Article • Neurology, March 2018, Wolters Kluwer Health

    Alessio Di Fonzo

  150. In vitro models of multiple system atrophy from primary cells to induced pluripotent stem cells

    Article • Journal of Cellular and Molecular Medicine, March 2018, Wiley

    Alessio Di Fonzo

  151. A de novo C19orf12 heterozygous mutation in a patient with MPAN

    Article • Parkinsonism & Related Disorders, March 2018, Elsevier

    Alessio Di Fonzo

  152. Real life evaluation of safinamide effectiveness in Parkinson’s disease

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

    Prof. Cristoforo Comi, Alessio Di Fonzo

  153. X-linked Parkinsonism with Intellectual Disability caused by novel mutations and somatic mosaicism in RAB39B gene

    Article • Parkinsonism & Related Disorders, November 2017, Elsevier

    Alessio Di Fonzo

  154. The GBAP1 pseudogene acts as a ceRNA for the glucocerebrosidase gene GBA by sponging miR-22-3p

    Article • Scientific Reports, October 2017, Springer Science + Business Media

    Alessio Di Fonzo

  155. Progressive Encephalomyelitis with Rigidity and Myoclonus Associated With Anti-GlyR Antibodies and Hodgkin’s Lymphoma: A Case Report

    Article • Frontiers in Neurology, August 2017, Frontiers

    Alessio Di Fonzo

  156. Mutations in TMEM230 are rare in autosomal dominant Parkinson's disease

    Article • Parkinsonism & Related Disorders, June 2017, Elsevier

    Alessio Di Fonzo

  157. Globus pallidus internus deep brain stimulation in PINK-1 related Parkinson's disease: A case report

    Article • Parkinsonism & Related Disorders, May 2017, Elsevier

    Alessio Di Fonzo

  158. Adaptive deep brain stimulation controls levodopa-induced side effects in Parkinsonian patients

    Article • Movement Disorders, February 2017, Wiley

    Alessio Di Fonzo

  159. Leucine-Rich Repeat Kinase (LRRK2) Genetics and Parkinson’s Disease

    Article • January 2017, Springer Science + Business Media

    Alessio Di Fonzo

  160. Mutational analysis of COQ2 in patients with MSA in Italy

    Article • Neurobiology of Aging, September 2016, Elsevier

    Alessio Di Fonzo

  161. Autophagy in motor neuron disease: Key pathogenetic mechanisms and therapeutic targets

    Article • Molecular and Cellular Neuroscience, April 2016, Elsevier

    Alessio Di Fonzo

  162. Abnormal brain temperature in early-onset Parkinson's disease

    Article • Movement Disorders, February 2016, Wiley

    Alessio Di Fonzo

  163. Cerebellar and Motor Cortical Transcranial Stimulation Decrease Levodopa-Induced Dyskinesias in Parkinson’s Disease

    Article • The Cerebellum, November 2015, Springer Science + Business Media

    Alessio Di Fonzo

  164. Juvenile dystonia-parkinsonism syndrome caused by a novel p.S941Tfs1X ATP13A2 (PARK9) mutation

    Article • Parkinsonism & Related Disorders, November 2015, Elsevier

    Alessio Di Fonzo

  165. Designing geographical indication institutions when stakeholders’ incentives are not perfectly aligned

    Article • British Food Journal, October 2015, Emerald

    Alessio Di Fonzo

  166. Adaptive deep brain stimulation in patients with Parkinson’s disease: phase II clinical trial preliminary results

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

    Alessio Di Fonzo

  167. Novel mitochondrial protein interactors of immunoglobulin light chains causing heart amyloidosis

    Article • The FASEB Journal, July 2015, Federation of American Societies For Experimental Biology (FASEB)

    Alessio Di Fonzo

  168. Adaptive deep brain stimulation in a freely moving parkinsonian patient

    Article • Movement Disorders, May 2015, Wiley

    Alessio Di Fonzo

  169. A novel homozygous PLA2G6 mutation causes dystonia-parkinsonism

    Article • Parkinsonism & Related Disorders, March 2015, Elsevier

    Alessio Di Fonzo

  170. Cerebellar tDCS: How to Do It

    Article • The Cerebellum, September 2014, Springer Science + Business Media

    Alessio Di Fonzo

  171. Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation

    Article • Neurology, May 2014, Wolters Kluwer Health

    Alessio Di Fonzo

  172. Biochemical markers in early diagnosis and management of systemic amyloidoses

    Article • Clinical Chemistry and Laboratory Medicine (CCLM), January 2014, De Gruyter

    Alessio Di Fonzo

  173. Obesity and Headache/Migraine: The Importance of Weight Reduction through Lifestyle Modifications

    Article • BioMed Research International, January 2014, Hindawi Publishing Corporation

    Alessio Di Fonzo

  174. Mutation in theSYNJ1Gene Associated with Autosomal Recessive, Early-Onset Parkinsonism

    Article • Human Mutation, August 2013, Wiley

    Alessio Di Fonzo

  175. Mutations in DNA2 Link Progressive Myopathy to Mitochondrial DNA Instability

    Article • The American Journal of Human Genetics, February 2013, Elsevier

    Alessio Di Fonzo

  176. Congenital Myasthenic Syndrome Due to Choline Acetyltransferase Mutations in Infants

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

    Alessio Di Fonzo

  177. The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment

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

    Alessio Di Fonzo

  178. Two novel mutations in PEO1 (Twinkle) gene associated with chronic external ophthalmoplegia

    Article • Journal of the Neurological Sciences, September 2011, Elsevier

    Alessio Di Fonzo

  179. Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T>C mutation

    Article • Biochemical and Biophysical Research Communications, August 2011, Elsevier

    Alessio Di Fonzo

  180. Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability

    Article • Neurogenetics, September 2010, Springer Science + Business Media

    Alessio Di Fonzo

  181. Autosomal dominant restless legs syndrome maps to chromosome 20p13 (RLS-5) in a Dutch kindred

    Article • Movement Disorders, July 2010, Wiley

    Alessio Di Fonzo

  182. GIGYF2 mutations are not a frequent cause of familial Parkinson's disease

    Article • Parkinsonism & Related Disorders, November 2009, Elsevier

    Alessio Di Fonzo

  183. The Mitochondrial Disulfide Relay System Protein GFER Is Mutated in Autosomal-Recessive Myopathy with Cataract and Combined Respiratory-Chain Deficiency

    Article • The American Journal of Human Genetics, May 2009, Elsevier

    Alessio Di Fonzo

  184. FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome

    Article • Neurology, November 2008, Wolters Kluwer Health

    Alessio Di Fonzo

  185. Pseudo-orthostatic and resting leg tremor in a large spanish family with homozygous truncating parkin mutation

    Article • Movement Disorders, October 2008, Wiley

    Alessio Di Fonzo

  186. The LRRK2 Arg1628Pro variant is a risk factor for Parkinson’s disease in the Chinese population

    Article • Neurogenetics, August 2008, Springer Science + Business Media

    Alessio Di Fonzo

  187. Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study

    Article • The Lancet Neurology, July 2008, Elsevier

    Alessio Di Fonzo

  188. LRRK2 MUTATION ANALYSIS IN PARKINSON DISEASE FAMILIES WITH EVIDENCE OF LINKAGE TO PARK8

    Article • Neurology, June 2008, Wolters Kluwer Health

    Alessio Di Fonzo

  189. SPG11: a consistent clinical phenotype in a family with homozygous Spatacsin truncating mutation

    Article • Neurogenetics, August 2007, Springer Science + Business Media

    Alessio Di Fonzo

  190. ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease

    Article • Neurology, May 2007, Wolters Kluwer Health

    Alessio Di Fonzo, Prof Maria Luiza Saraiva-Pereira

  191. Parkin polymorphisms and environmental exposure: Decrease in age at onset of Parkinson's disease

    Article • NeuroToxicology, May 2007, Elsevier

    Alessio Di Fonzo

  192. LRRK2 mutations and Parkinson's disease in Sardinia—A Mediterranean genetic isolate

    Article • Parkinsonism & Related Disorders, February 2007, Elsevier

    Alessio Di Fonzo

  193. High prevalence ofLRRK2 mutations in familial and sporadic Parkinson's disease in Portugal

    Article • Movement Disorders, January 2007, Wiley

    Alessio Di Fonzo

  194. Neuropathology of Parkinson's disease associated with theLRRK2 Ile1371Val mutation

    Article • Movement Disorders, January 2007, Wiley

    Alessio Di Fonzo

  195. 1.283 Clinical and genetic study of a large Dutch family with autosomal dominant restless legs syndrome

    Article • Parkinsonism & Related Disorders, January 2007, Elsevier

    Alessio Di Fonzo

  196. 2.119 Parkin polymorphisms and environmental exposure: Reduction of Parkinson's disease age of onset

    Article • Parkinsonism & Related Disorders, January 2007, Elsevier

    Alessio Di Fonzo

  197. LRRK2 G2019S mutation and Parkinson's disease: A clinical, neuropsychological and neuropsychiatric study in a large Italian sample

    Article • Parkinsonism & Related Disorders, October 2006, Elsevier

    Alessio Di Fonzo

  198. The LRRK2 Gly2385Arg variant is associated with Parkinson’s disease: genetic and functional evidence

    Article • Human Genetics, September 2006, Springer Science + Business Media

    Alessio Di Fonzo

  199. A common missense variant in the LRRK2 gene, Gly2385Arg, associated with Parkinson’s disease risk in Taiwan

    Article • Neurogenetics, April 2006, Springer Science + Business Media

    Alessio Di Fonzo

  200. Striatal dopamine transporter binding in Parkinson's disease associated with theLRRK2 Gly2019Ser mutation

    Article • Movement Disorders, January 2006, Wiley

    Alessio Di Fonzo

  201. Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease

    Article • European Journal of Human Genetics, December 2005, Springer Science + Business Media

    Alessio Di Fonzo

  202. A case of CPT deficiency, homoplasmic mtDNA mutation and ragged red fibers at muscle biopsy

    Article • Journal of the Neurological Sciences, December 2005, Elsevier

    Alessio Di Fonzo

  203. The LRRK2 I2012T, G2019S, and I2020T mutations are rare in Taiwanese patients with sporadic Parkinson's disease

    Article • Parkinsonism & Related Disorders, December 2005, Elsevier

    Alessio Di Fonzo

  204. The G6055A (G2019S) mutation in LRRK2 is frequent in both early and late onset Parkinson's disease and originates from a common ancestor

    Article • Journal of Medical Genetics, June 2005, BMJ

    Alessio Di Fonzo

  205. A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease

    Article • The Lancet, January 2005, Elsevier

    Alessio Di Fonzo

  206. POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions

    Article • Human Mutation, November 2003, Wiley

    Alessio Di Fonzo

  207. Remarkable infidelity of polymerase  A associated with mutations in POLG1 exonuclease domain

    Article • Neurology, October 2003, Wolters Kluwer Health

    Alessio Di Fonzo

  208. Novel missense mutation and large deletion ofGNE gene in autosomal-recessive inclusion-body myopathy

    Article • Muscle & Nerve, June 2003, Wiley

    Alessio Di Fonzo