SYNE1 mutations in autosomal recessive cerebellar ataxia

JAMA Neurology

Volumn 70, Issue 10, 2013, Pages 1296-1301

  Noreau, Anne ^a,b   Bourassa, Cynthia V ^a,b   Szuto, Anna ^a,b   Levert, Annie ^a,b   Dobrzeniecka, Sylvia ^a,b   Gauthier, Julie ^a,d   Forlani, Sylvie ^e   Durr, Alexandra ^e   Anheim, Mathieu ^e,f   Stevanin, Giovanni ^e   Brice, Alexis ^e   Bouchard, Jean Pierre ^g   Dion, Patrick A ^a,b,c   Dupré, Nicolas ^g   Rouleau, Guy A ^a,b  

^a CENTRE HOSPITALIER DE L UNIVERSITÉ DE MONTRÉAL   (Canada)

^b MCGILL UNIVERSITY   (Canada)

^c UNIVERSITÉ DE MONTRÉAL   (Canada)

^d UNIVERSITY OF MONTREAL   (Canada)

^e PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^f HÔPITAL CIVIL   (France)

^g UNIVERSITÉ LAVAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAZIL; CANADA; CEREBELLAR ATAXIA; CEREBELLUM ATROPHY; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; FRANCE; GENE; GENE MUTATION; HETEROZYGOTE; HOMOZYGOTE; HUMAN; MALE; MUTATIONAL ANALYSIS; PEDIGREE ANALYSIS; PRIORITY JOURNAL; SYNAPTIC NUCLEAR ENVELOPE PROTEIN 1 GENE;

EID: 84885762639     PISSN: 21686149     EISSN: None     Source Type: Journal    
DOI: 10.1001/jamaneurol.2013.3268     Document Type: Article

References (5)

1. Gros-Louis F, Dupré N, Dion P, et al. Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia. Nat Genet. 2007;39(1):80-85. (Pubitemid 46026505)
2. Dupré N, Bouchard JP, Gros-Louis F, Rouleau GA. Mutations in SYNE-1 lead to a newly discovered form of autosomal recessive cerebellar ataxia [in French]. Med Sci (Paris). 2007;23(3):261-262. (Pubitemid 46472649)
3. Izumi Y, Miyamoto R, Morino H, et al. Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease. Neurology. 2013;80(6):600-601.
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