Friedreich's ataxia. Revision of the phenotype according to molecular genetics

Brain

Volumn 120, Issue 12, 1997, Pages 2131-2140

  Schöls, Ludger ^a   Amoiridis, Georgios ^a   Przuntek, Horst ^a   Frank, Gabriele ^b   Epplen, Jörg T ^b   Epplen, Cornelia ^b  

^a ST JOSEF HOSPITAL   (Germany)

^b RUHR UNIVERSITY BOCHUM   (Germany)

Author keywords

Diagnostic criteria; Friedreich's ataxia; Genotype; Phenotype; Trinucleotide repeat

Indexed keywords

ADULT; ALLELE; ARTICLE; ATAXIA; AUTOSOMAL RECESSIVE INHERITANCE; BABINSKI REFLEX; CEREBELLAR ATAXIA; CHROMOSOME 9Q; CONTROLLED STUDY; DISEASE COURSE; DYSARTHRIA; FEMALE; FRIEDREICH ATAXIA; GENE FREQUENCY; GENETIC HETEROGENEITY; GENETIC POLYMORPHISM; HOMOZYGOSITY; HUMAN; HUMAN CELL; HYPERTROPHIC CARDIOMYOPATHY; MAJOR CLINICAL STUDY; MALE; MEIOSIS; MOLECULAR GENETICS; NERVE DEGENERATION; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; SEXUAL TRANSMISSION; TRINUCLEOTIDE REPEAT; VIBRATION SENSE;

ADOLESCENT; ADULT; AGE OF ONSET; ALLELES; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 9; FEMALE; FRIEDREICH ATAXIA; GENOMIC IMPRINTING; HETEROZYGOTE DETECTION; HUMANS; IRON-BINDING PROTEINS; MALE; MEIOSIS; MOLECULAR BIOLOGY; NUCLEAR FAMILY; PEDIGREE; PHENOTYPE; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); REFERENCE VALUES; TRINUCLEOTIDE REPEATS;

EID: 1842370633     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/120.12.2131     Document Type: Article

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