Showing results (71-80 of 182) with videos related to
Sort By:
Pageof 19
Molecular and Cellular Neurosciences|May 7, 2011
Cellular distribution and subcellular localization of spatacsin and spastizin, two proteins involved in hereditary spastic paraplegiaReena Prity Murmu, Elodie Martin, Agnès Rastetter, et al.American Journal of Human Genetics|October 13, 2015
A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar AtaxiaMarie Coutelier, Iulia Blesneac, Arnaud Monteil, et al.Movement Disorders : Official Journal of the Movement Disorder Society|January 30, 2015
The impact of rare variants in FUS in essential tremorFranziska Hopfner, Giovanni Stevanin, Stefanie H Müller, et al.Archives of Neurology|May 10, 2006
Hereditary spastic paraplegia with thin corpus callosum: reduction of the SPG11 interval and evidence for further genetic heterogeneityAlexander Lossos, Giovanni Stevanin, Vardiella Meiner, et al.Brain : a Journal of Neurology|January 23, 2004
Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patientsIsabelle Le Ber, Naïma Bouslam, Sophie Rivaud-Péchoux, et al.European Journal of Human Genetics : EJHG|May 7, 2021
Evidence of mosaicism in SPAST variant carriers in four French familiesChloé Angelini, Cyril Goizet, Samia Ait Said, et al.JAMA Neurology|July 12, 2016
Expanding the Spectrum of Genes Involved in Huntington Disease Using a Combined Clinical and Genetic ApproachLouise-Laure Mariani, Christelle Tesson, Perrine Charles, et al.Brain : a Journal of Neurology|March 23, 2013
Interferon β induces clearance of mutant ataxin 7 and improves locomotion in SCA7 knock-in miceAlice Chort, Sandro Alves, Martina Marinello, et al.JAMA Neurology|August 21, 2013
SYNE1 mutations in autosomal recessive cerebellar ataxiaAnne Noreau, Cynthia V Bourassa, Anna Szuto, et al.American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|May 16, 2007
Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical descriptionStephan Klebe, Alexandra Durr, Naima Bouslam, et al.Pageof 19