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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.
Annals of Neurology|September 27, 2002
Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotypeFriedrich Asmus, Alexander Zimprich, Sophie Tezenas Du Montcel, et al.
Annals of Neurology|April 8, 2009
TARDBP mutations in motoneuron disease with frontotemporal lobar degenerationLina Benajiba, Isabelle Le Ber, Agnès Camuzat, 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.
Plos One|September 23, 2009
Genetic variants of the alpha-synuclein gene SNCA are associated with multiple system atrophyAmmar Al-Chalabi, Alexandra Dürr, Nicholas W Wood, et al.
Frontiers in Neurology|August 15, 2020
Exome Sequencing Reveals Signal Transduction Genes Involved in Impulse Control Disorders in Parkinson's DiseaseSabine Prud'hon, Samir Bekadar, Agnès Rastetter, 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.
Neurobiology of Aging|January 12, 2011
Screening of OPTN in French familial amyotrophic lateral sclerosisStéphanie Millecamps, Séverine Boillée, Elodie Chabrol, 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.
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