Clinical and molecular advances in autosomal dominant cerebellar ataxias: From genotype to phenotype and physiopathology

European Journal of Human Genetics

Volumn 8, Issue 1, 2000, Pages 4-18

  Stevanin, Giovanni ^a   Dürr, Alexandra ^a   Brice, Alexis ^a  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

Anticipation; Autosomal dominant cerebellar ataxia; Clinical and genetic correlations; Genetic heterogeneity; Polyglutamine expansion; Spinocerebellar ataxias

Indexed keywords

POLYGLUTAMINE;

ADULT; AUTOSOMAL DOMINANT INHERITANCE; CEREBELLAR ATAXIA; CLINICAL FEATURE; CODON; DEGENERATIVE DISEASE; GENE FREQUENCY; GENE LOCATION; GENE MAPPING; GENETIC COUNSELING; GENETIC HETEROGENEITY; GENETIC MARKER; GENOTYPE; HUMAN; HUMAN CELL; MOLECULAR GENETICS; NEUROPATHOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; REVIEW; TRINUCLEOTIDE REPEAT;

ANTICIPATION, GENETIC; BRAIN; CEREBELLAR ATAXIA; GENES, DOMINANT; GENOTYPE; HUMANS; MUTATION; PEPTIDES; PHENOTYPE; SPINOCEREBELLAR ATAXIAS; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 0343820077     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200403     Document Type: Review

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