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Author Details

Massimo Pandolfo
Universite Libre de Bruxelles (ULB)
1985
256
66
PMIDPaper TitleJournal TitlePublished Year
36865673Proprioceptors-enriched neuronal cultures from induced pluripotent stem cells from Friedreich ataxia patients show altered transcriptomic and proteomic profiles, abnormal neurite extension, and impaired electrophysiological properties.Brain Commun2023
37641437Longitudinal changes of SARA scale in Friedreich ataxia: Strong influence of baseline score and age at onset.Ann Clin Transl Neurol2023
36865673Proprioceptors-enriched neuronal cultures from induced pluripotent stem cells from Friedreich ataxia patients show altered transcriptomic and proteomic profiles, abnormal neurite extension, and impaired electrophysiological properties.Brain Commun2023
37641437Longitudinal changes of SARA scale in Friedreich ataxia: Strong influence of baseline score and age at onset.Ann Clin Transl Neurol2023
35322126DNA methylation in Friedreich ataxia silences expression of frataxin isoform E.Sci Rep2022
35911978Cerebrospinal Fluid Proteomics in Friedreich Ataxia Reveals Markers of Neurodegeneration and Neuroinflammation.Front Neurosci2022
36357508Prediction of the disease course in Friedreich ataxia.Sci Rep2022
36410013A natural history study to track brain and spinal cord changes in individuals with Friedreich's ataxia: TRACK-FA study protocol.PLoS One2022
36524101Efficacy and Safety of Leriglitazone in Patients With Friedreich Ataxia: A Phase 2 Double-Blind, Randomized Controlled Trial (FRAMES).Neurol Genet2022
35322126DNA methylation in Friedreich ataxia silences expression of frataxin isoform E.Sci Rep2022
35332317Recessive cerebellar and afferent ataxias - clinical challenges and future directions.Nat Rev Neurol2022
36410013A natural history study to track brain and spinal cord changes in individuals with Friedreich's ataxia: TRACK-FA study protocol.PLoS One2022
36524101Efficacy and Safety of Leriglitazone in Patients With Friedreich Ataxia: A Phase 2 Double-Blind, Randomized Controlled Trial (FRAMES).Neurol Genet2022
35911978Cerebrospinal Fluid Proteomics in Friedreich Ataxia Reveals Markers of Neurodegeneration and Neuroinflammation.Front Neurosci2022
36357508Prediction of the disease course in Friedreich ataxia.Sci Rep2022
35332317Recessive cerebellar and afferent ataxias - clinical challenges and future directions.Nat Rev Neurol2022
34523778Age of onset modulates resting-state brain network dynamics in Friedreich Ataxia.Hum Brain Mapp2021
33736655Research priorities for rare neurological diseases: a representative view of patient representatives and healthcare professionals from the European Reference Network for Rare Neurological Diseases.Orphanet J Rare Dis2021
33889725<i>Neurology: Genetics</i> Year in Review.Neurol Genet2021
34523778Age of onset modulates resting-state brain network dynamics in Friedreich Ataxia.Hum Brain Mapp2021
33736655Research priorities for rare neurological diseases: a representative view of patient representatives and healthcare professionals from the European Reference Network for Rare Neurological Diseases.Orphanet J Rare Dis2021
33889725<i>Neurology: Genetics</i> Year in Review.Neurol Genet2021
32510804Cerebellar cognitive disorder parallels cerebellar motor symptoms in Friedreich ataxia.Ann Clin Transl Neurol2020
31854120Age of onset determines intrinsic functional brain architecture in Friedreich ataxia.Ann Clin Transl Neurol2020
31839397Electrophysiological evidence for limited progression of the proprioceptive impairment in Friedreich ataxia.Clin Neurophysiol2020
31877117Exenatide induces frataxin expression and improves mitochondrial function in Friedreich ataxia.JCI Insight2020
32337346Cerebellar ataxia, neuropathy, hearing loss, and intellectual disability due to AIFM1 mutation.Neurol Genet2020
32337342Neurologic outcomes in Friedreich ataxia: Study of a single-site cohort.Neurol Genet2020
32385372Primary proprioceptive neurons from human induced pluripotent stem cells: a cell model for afferent ataxias.Sci Rep2020
32746884Onset features and time to diagnosis in Friedreich's Ataxia.Orphanet J Rare Dis2020
33238751Central Nervous System Therapeutic Targets in Friedreich Ataxia.Hum Gene Ther2020
32510804Cerebellar cognitive disorder parallels cerebellar motor symptoms in Friedreich ataxia.Ann Clin Transl Neurol2020
32779859Test-retest reliability of the Friedreich's ataxia rating scale.Ann Clin Transl Neurol2020
33426162Hand Dexterity and Pyramidal Dysfunction in Friedreich Ataxia, A Finger Tapping Study.Mov Disord Clin Pract2020
31877117Exenatide induces frataxin expression and improves mitochondrial function in Friedreich ataxia.JCI Insight2020
31839397Electrophysiological evidence for limited progression of the proprioceptive impairment in Friedreich ataxia.Clin Neurophysiol2020
31854120Age of onset determines intrinsic functional brain architecture in Friedreich ataxia.Ann Clin Transl Neurol2020
33426162Hand Dexterity and Pyramidal Dysfunction in Friedreich Ataxia, A Finger Tapping Study.Mov Disord Clin Pract2020
33238751Central Nervous System Therapeutic Targets in Friedreich Ataxia.Hum Gene Ther2020
32746884Onset features and time to diagnosis in Friedreich's Ataxia.Orphanet J Rare Dis2020
32779859Test-retest reliability of the Friedreich's ataxia rating scale.Ann Clin Transl Neurol2020
32337346Cerebellar ataxia, neuropathy, hearing loss, and intellectual disability due to AIFM1 mutation.Neurol Genet2020
32337342Neurologic outcomes in Friedreich ataxia: Study of a single-site cohort.Neurol Genet2020
32385372Primary proprioceptive neurons from human induced pluripotent stem cells: a cell model for afferent ataxias.Sci Rep2020
31197032Evidence for genetically determined degeneration of proprioceptive tracts in Friedreich ataxia.Neurology2019
32043491Rating scales for rare neurological diseases: What are we learning from Friedreich ataxia?Neurol Genet2019
33324899Protocol of a randomized, double-blind, placebo-controlled, parallel-group, multicentre study of the efficacy and safety of nicotinamide in patients with Friedreich ataxia (NICOFA).Neurol Res Pract2019
31176929Altered neocortical tactile but preserved auditory early change detection responses in Friedreich ataxia.Clin Neurophysiol2019
31211461Prediction of Survival With Long-Term Disease Progression in Most Common Spinocerebellar Ataxia.Mov Disord2019
31197032Evidence for genetically determined degeneration of proprioceptive tracts in Friedreich ataxia.Neurology2019
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Collaborators

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Co-authored papers 32
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Co-authored papers 23
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UCL Great Ormond Street Institute of Child Health, University College London
Co-authored papers 6
David Geffen School of Medicine, University of California los angeles
Co-authored papers 6
Institute of Neuroscience and Medicine (INM-1), Research Center Juelich
Co-authored papers 5
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University of California San Francisco
Co-authored papers 5
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University of Southern California
Co-authored papers 5
Oslo University Hospital & Institute of Clinical Medicine, University of Oslo
Co-authored papers 5
Institute for Genomic Medicine, Columbia University Irving Medical Center
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Dalhousie University
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Center for Genomic Medicine, Massachusetts General Hospital
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Center for Neuroimaging, Indiana University School of Medicine
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Maastricht University Medical Centre
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Big Data Science Institute, University of Oxford
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University of Oslo, Oslo University Hospital
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