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Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 24, 2022
Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?Mathieu Barbier, Claire-Sophie Davoine, Emilien Petit, et al.
BMC Medical Genomics|June 20, 2013
Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathwaysCecilia Mancini, Paola Roncaglia, Alessandro Brussino, et al.
Neurological Research and Practice|December 16, 2020
Protocol of a randomized, double-blind, placebo-controlled, parallel-group, multicentre study of the efficacy and safety of nicotinamide in patients with Friedreich ataxia (NICOFA)Kathrin Reetz, Ralf-Dieter Hilgers, Susanne Isfort, et al.
Human Brain Mapping|November 22, 2011
Clinical impairment in premanifest and early Huntington's disease is associated with regionally specific atrophyRachael I Scahill, Nicola Z Hobbs, Miranda J Say, et al.
Annals of Neurology|August 2, 2003
How much phenotypic variation can be attributed to parkin genotype?Ebba Lohmann, Magali Periquet, Vincenzo Bonifati, et al.
Brain : a Journal of Neurology|June 4, 2009
Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystoniaFabienne Clot, David Grabli, Cécile Cazeneuve, et al.
The Journal of Neuropsychiatry and Clinical Neurosciences|February 27, 2015
Reliability and factor structure of the Short Problem Behaviors Assessment for Huntington's disease (PBA-s) in the TRACK-HD and REGISTRY studiesJenny Callaghan, Cheryl Stopford, Natalie Arran, 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.
Human Molecular Genetics|March 19, 2026
Association of rare apolipoprotein E ε4 homozygosity with an earlier age at onset in spinocerebellar ataxia type 3Charlotte Clara Meyer, Eduardo Preusser de Mattos, Rahel Maria Burger, 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.
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