Showing results (41-50 of 182) with videos related to

Sort By:
Pageof 19
Neurobiology of Disease|July 18, 2012
Spatacsin and spastizin act in the same pathway required for proper spinal motor neuron axon outgrowth in zebrafishElodie Martin, Constantin Yanicostas, Agnès Rastetter, et al.
Human Mutation|October 15, 2008
Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10Cyril Goizet, Amir Boukhris, Emeline Mundwiller, et al.
Orphanet Journal of Rare Diseases|November 27, 2014
Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1Imen Dorboz, Marie Coutelier, Anne T Bertrand, et al.
Brain : a Journal of Neurology|January 26, 2006
Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3Stephan Klebe, Hamid Azzedine, Alexandra Durr, et al.
Communications Biology|October 23, 2019
Loss of spatacsin impairs cholesterol trafficking and calcium homeostasisMaxime Boutry, Alexandre Pierga, Raphaël Matusiak, et al.
Journal of Neurology|February 19, 2009
SPG11 spastic paraplegia. A new cause of juvenile parkinsonismMathieu Anheim, Clotilde Lagier-Tourenne, Giovanni Stevanin, et al.
Neurogenetics|July 2, 2010
A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosumAmir Boukhris, Imed Feki, Nizar Elleuch, et al.
Molecular Neurodegeneration|July 29, 2016
Lentiviral vector-mediated overexpression of mutant ataxin-7 recapitulates SCA7 pathology and promotes accumulation of the FUS/TLS and MBNL1 RNA-binding proteinsSandro Alves, Thibaut Marais, Maria-Grazia Biferi, et al.
Archives of Neurology|December 15, 2004
Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegiaAlexandra Dürr, Agnès Camuzat, Emilie Colin, et al.
Archives of Neurology|August 18, 2004
Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14Giovanni Stevanin, Valérie Hahn, Ebba Lohmann, et al.
Pageof 19