[Mutations in SYNE-1 lead to a newly discovered form of autosomal recessive cerebellar ataxia].
Dupré
Nicolas
N
Bouchard
Jean-Pierre
JP
Gros-Louis
François
F
Rouleau
Guy A
GA
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002524:Cerebellar Ataxia / Q000145:classification / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D003598:Cytoskeletal Proteins; D004401:Dysarthria / Q000208:ethnology / Q000235:genetics; D005260:Female; D005602:France / Q000208:ethnology; D005808:Genes, Recessive; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000737:chemistry / Q000172:deficiency / Q000235:genetics* / Q000502:physiology; D009687:Nuclear Proteins / Q000737:chemistry / Q000172:deficiency / Q000235:genetics* / Q000502:physiology; D017434:Protein Structure, Tertiary; D011792:Quebec / Q000453:epidemiology
D003598:Cytoskeletal Proteins; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; C415465:SYNE1 protein, human