Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia

Nature Genetics

Volumn 39, Issue 1, 2007, Pages 80-85

  Gros Louis, François ^a   Dupré, Nicolas ^a,b   Dion, Patrick ^a   Fox, Michael A ^c   Laurent, Sandra ^a   Verreault, Steve ^b   Sanes, Joshua R ^c   Bouchard, Jean Pierre ^b   Rouleau, Guy A ^a  

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

^b LAVAL UNIVERSITY   (Canada)

^c HARVARD UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN DERIVATIVE; PROTEIN SYNE1; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CEREBELLAR ATAXIA; COHORT ANALYSIS; CONTROLLED STUDY; FEMALE; GENE MUTATION; HUMAN; MALE; PRIORITY JOURNAL;

ADULT; AGED; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CEREBELLAR ATAXIA; CEREBELLUM; CHROMOSOME MAPPING; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, RECESSIVE; GENETIC SCREENING; HUMANS; MALE; MICE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; NERVE TISSUE PROTEINS; NUCLEAR PROTEINS; QUEBEC;

ATAXIA; ATAXIA TELANGIECTASIA;

EID: 33845891591     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng1927     Document Type: Article

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