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Neurogenetics|January 24, 2021
Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlationsJean-Loup Méreaux, Cristina Firanescu, Giulia Coarelli, et al.BMC Medicine|March 25, 2026
Digenic inheritance of mutations in SPG7 and AFG3L2 causes motor neuron and cerebellar disordersMehrdad A Estiar, Eric Yu, Parizad Varghaei, et al.Journal of Medical Genetics|June 11, 2013
A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasiaEleonora Di Gregorio, Federico T Bianchi, Alfonso Schiavi, et al.Human Mutation|May 28, 2011
REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunctionCyril Goizet, Christel Depienne, Giovanni Benard, et al.Human Molecular Genetics|June 20, 2013
PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth diseaseHamid Azzedine, Petra Zavadakova, Violaine Planté-Bordeneuve, et al.Brain : a Journal of Neurology|November 17, 2021
NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxiaMarie Coutelier, Maxime Jacoupy, Alexandre Janer, et al.Brain : a Journal of Neurology|June 29, 2014
Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genesSophie Tezenas du Montcel, Alexandra Durr, Peter Bauer, et al.Brain : a Journal of Neurology|May 31, 2015
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegiaMarie Coutelier, Cyril Goizet, Alexandra Durr, et al.American Journal of Human Genetics|November 25, 2010
Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxiaSascha Vermeer, Alexander Hoischen, Rowdy P P Meijer, et al.American Journal of Human Genetics|June 11, 2013
Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegiaAmir Boukhris, Rebecca Schule, José L Loureiro, et al.Pageof 19