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Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48Stefania Magri, Lorenzo Nanetti, Cinzia Gellera, et al.Journal of Neurology|December 6, 2018
ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotypeLorenzo Nanetti, Elisa Sarto, Anna Castaldo, et al.Brain : a Journal of Neurology|May 17, 2014
Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48Viviana Pensato, Barbara Castellotti, Cinzia Gellera, et al.American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|July 12, 2020
Huntingtin gene CAG repeat size affects autism risk: Family-based and case-control association studyIgnazio Stefano Piras, Chiara Picinelli, Raffaele Iennaco, et al.Scientific Reports|November 20, 2020
In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia-Telangiectasia patientsElisa Pozzi, Elisa Giorgio, Cecilia Mancini, 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.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.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.Cell Death & Disease|September 27, 2024
Altered molecular and cellular mechanisms in KIF5A-associated neurodegenerative or neurodevelopmental disordersMarta Cozzi, Stefania Magri, Barbara Tedesco, et al.Scientific Reports|November 10, 2022
Prediction of the disease course in Friedreich ataxiaChristian Hohenfeld, Ulrich Terstiege, Imis Dogan, et al.Pageof 7