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Massimo Pandolfo

Showing results (121-130 of 163) with videos related to

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Annals of Neurology|January 3, 2013
Central role and mechanisms of β-cell dysfunction and death in friedreich ataxia-associated diabetesMiriam Cnop, Mariana Igoillo-Esteve, Myriam Rai, et al.
Biorxiv : the Preprint Server for Biology|March 27, 2026
Friedreich ataxia transcriptomic dysregulation and identification of cell type-specific biomarkers: A systematic review and meta-analysisMarnie L Maddock, Sara Miellet, Anjila Dongol, et al.
Human Molecular Genetics|October 22, 2004
The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathwayHsien-Yang Lee, Ying Xu, Yong Huang, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|December 23, 2023
Predictors of Survival in Friedreich's Ataxia: A Prospective Cohort StudyElisabetta Indelicato, Kathrin Reetz, Sarah Maier, et al.
Cerebellum (London, England)|February 17, 2010
Falls in spinocerebellar ataxias: Results of the EuroSCA Fall StudyElla M R Fonteyn, Tanja Schmitz-Hübsch, Carla C Verstappen, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|October 10, 2025
Analysis of a Modified Version of the Inventory of Non-Ataxia Signs Over 12 Years in Patients with Friedreich's Ataxia in the EFACTS StudyStella Andrea Lischewski, Imis Dogan, Paola Giunti, et al.
Annals of Clinical and Translational Neurology|August 29, 2023
Longitudinal changes of SARA scale in Friedreich ataxia: Strong influence of baseline score and age at onsetLuca Porcu, Mario Fichera, Lorenzo Nanetti, et al.
The Lancet. Neurology|March 26, 2021
Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort studyKathrin Reetz, Imis Dogan, Ralf-Dieter Hilgers, et al.
Archives of Neurology|May 10, 2006
Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegiaFrancesca Crippa, Chris Panzeri, Andrea Martinuzzi, et al.
Annals of Neurology|November 23, 2006
Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutationAn C Jansen, Ozgur Sancak, Maria Daniela D'Agostino, et al.
Pageof 17

Showing results (121-130 of 163) with videos related to

Sort By:
Pageof 17
Annals of Neurology|January 3, 2013
Central role and mechanisms of β-cell dysfunction and death in friedreich ataxia-associated diabetesMiriam Cnop, Mariana Igoillo-Esteve, Myriam Rai, et al.
Biorxiv : the Preprint Server for Biology|March 27, 2026
Friedreich ataxia transcriptomic dysregulation and identification of cell type-specific biomarkers: A systematic review and meta-analysisMarnie L Maddock, Sara Miellet, Anjila Dongol, et al.
Human Molecular Genetics|October 22, 2004
The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathwayHsien-Yang Lee, Ying Xu, Yong Huang, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|December 23, 2023
Predictors of Survival in Friedreich's Ataxia: A Prospective Cohort StudyElisabetta Indelicato, Kathrin Reetz, Sarah Maier, et al.
Cerebellum (London, England)|February 17, 2010
Falls in spinocerebellar ataxias: Results of the EuroSCA Fall StudyElla M R Fonteyn, Tanja Schmitz-Hübsch, Carla C Verstappen, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|October 10, 2025
Analysis of a Modified Version of the Inventory of Non-Ataxia Signs Over 12 Years in Patients with Friedreich's Ataxia in the EFACTS StudyStella Andrea Lischewski, Imis Dogan, Paola Giunti, et al.
Annals of Clinical and Translational Neurology|August 29, 2023
Longitudinal changes of SARA scale in Friedreich ataxia: Strong influence of baseline score and age at onsetLuca Porcu, Mario Fichera, Lorenzo Nanetti, et al.
The Lancet. Neurology|March 26, 2021
Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort studyKathrin Reetz, Imis Dogan, Ralf-Dieter Hilgers, et al.
Archives of Neurology|May 10, 2006
Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegiaFrancesca Crippa, Chris Panzeri, Andrea Martinuzzi, et al.
Annals of Neurology|November 23, 2006
Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutationAn C Jansen, Ozgur Sancak, Maria Daniela D'Agostino, et al.
Pageof 17