Screening for FMR-1 premutations in 122 older flemish males presenting with ataxia

European Journal of Human Genetics

Volumn 13, Issue 1, 2005, Pages 121-123

  Van Esch, Hilde ^a   Dom, Rene ^a   Bex, Dorien ^a   Salden, Ivo ^a   Caeckebeke, Jo ^b   Wibail, Alain ^c   Borghgraef, Martine ^a   Legius, Eric ^a   Fryns, Jean Pierre ^a   Matthijs, Gert ^a  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^b OLV HOSPITAL   (Belgium)

^c DEPARTMENT OF CARDIOLOGY   (Belgium)

Author keywords

Ataxia; FMR 1; FXTAS; Premutation

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN;

ADULT; ARTICLE; ATAXIA; BELGIUM; CEREBELLAR ATAXIA; COGNITIVE DEFECT; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; FAMILY; GENE MUTATION; GENETIC SCREENING; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; NEUROLOGIC DISEASE; ONSET AGE; PATIENT REFERRAL; PRIORITY JOURNAL; SPINOCEREBELLAR DEGENERATION; SYMPTOMATOLOGY; TREMOR;

AGED; AGED, 80 AND OVER; ATAXIA; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; GENETIC SCREENING; GENOTYPE; HUMANS; MALE; MUTATION; NERVE TISSUE PROTEINS; NEUROLOGIC EXAMINATION; RNA-BINDING PROTEINS; TREMOR; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 19944434329     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201312     Document Type: Article

References (7)

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