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Annals of Neurology|September 30, 2005
New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14Stephan Klebe, Alexandra Durr, Alexander Rentschler, et al.Journal of Medical Genetics|January 4, 2023
Fast and reliable detection of repeat expansions in spinocerebellar ataxia using exomesJean-Loup Méreaux, Claire-Sophie Davoine, Marie Coutelier, et al.Neurogenetics|July 31, 2007
Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab familiesNizar Elleuch, Naima Bouslam, Sylvain Hanein, et al.European Journal of Human Genetics : EJHG|May 13, 2010
A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42)Nina A Schlipf, Christian Beetz, Rebecca Schüle, et al.Neurology|July 6, 2012
Polymorphisms in the glial glutamate transporter SLC1A2 are associated with essential tremorSandra Thier, Delia Lorenz, Michael Nothnagel, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 28, 2020
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairmentThomas Roux, Mathieu Barbier, Mélanie Papin, et al.Annals of Neurology|February 10, 2016
Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patientsRebecca Schüle, Sarah Wiethoff, Peter Martus, et al.European Journal of Human Genetics : EJHG|January 20, 2012
KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutationsStephan Klebe, Alexander Lossos, Hamid Azzedine, et al.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.Journal of Neurology|June 24, 2015
Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1Alleene V Strickland, Maria Schabhüttl, Hans Offenbacher, et al.Pageof 10