Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy

Annals of Neurology

Volumn 57, Issue 3, 2005, Pages 408-414

  Duquette, Antoine ^a   Roddier, Katel ^a   McNabb Baltar, Julia ^a   Gosselin, Isabelle ^a   St Denis, Anik ^a   Dicaite, Marie Josée ^a   Loisel, Lina ^a   Labuda, Damian ^b   Marchand, Luc ^a   Mathieu, Jean ^c   Bouchard, Jean Pierre ^d   Brais, Bernard ^a,c,e  

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

^b UNIVERSITY OF MONTREAL   (Canada)

^c Clinique des Maladies Neuromusculaires   (Canada)

^d UNIVERSITÉ LAVAL   (Canada)

^e NOTRE DAME HOSPITAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA FETOPROTEIN; GENOMIC DNA; HELICASE; SENATAXIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; APRAXIA; ARTICLE; ATAXIA; BLOOD LEVEL; CANADA; CHILD; CHROMOSOME 9Q; CLINICAL ARTICLE; COHORT ANALYSIS; DNA SEQUENCE; DYSARTHRIA; FAMILY STUDY; FEMALE; GENE; GENE MUTATION; GENETIC LINKAGE; HUMAN; LABORATORY TEST; MALE; MISSENSE MUTATION; NEUROPATHY; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PHENOTYPE; POLYMERASE CHAIN REACTION; PREVALENCE; PRIORITY JOURNAL; SEN1P GENE; SENSORIMOTOR NEUROPATHY; SETX GENE;

ADULT; AGED; ALPHA-FETOPROTEINS; APRAXIAS; ARGININE; ATAXIA; CHROMOSOMES, HUMAN, PAIR 9; CLUSTER ANALYSIS; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GLUTAMIC ACID; HUMANS; LEUCINE; LINKAGE DISEQUILIBRIUM; LYSINE; MALE; MIDDLE AGED; MUTATION; OCULOMOTOR NERVE DISEASES; QUEBEC; RNA HELICASES;

EID: 20044374998     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.20408     Document Type: Article

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