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Neurology. Genetics|January 31, 2018
Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 functionNatalia Mendoza-Ferreira, Marie Coutelier, Eva Janzen, et al.Human Molecular Genetics|June 19, 2015
Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage diseaseJennifer Hirst, James R Edgar, Typhaine Esteves, 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.American Journal of Human Genetics|April 9, 2008
Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndromeSylvain Hanein, Elodie Martin, Amir Boukhris, et al.Nature Genetics|February 28, 2006
Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypesMichael F Waters, Natali A Minassian, Giovanni Stevanin, et al.BMC Medical Genetics|May 10, 2018
Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese familyLiena E O Elsayed, Inaam N Mohammed, Ahlam A A Hamed, et al.Human Genetics|November 13, 2023
Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineageSandra Martins, Ashraf Yahia, Inês P D Costa, et al.JAMA Neurology|May 24, 2013
New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32Carmen Serrano-Munuera, Marc Corral-Juan, Giovanni Stevanin, et al.Neurology|April 5, 2015
GRID2 mutations span from congenital to mild adult-onset cerebellar ataxiaMarie Coutelier, Lydie Burglen, Emeline Mundwiller, et al.Pageof 19