SCA27 caused by a chromosome translocation: Further delineation of the phenotype

Neurogenetics

Volumn 10, Issue 4, 2009, Pages 371-374

  Misceo, D ^a,b   Fannemel, M ^a   Baroy T ^a,b   Roberto, R ^c   Tvedt, B ^a   Jaeger T ^a   Bryn, V ^d   Stromme P ^a,b   Frengen, E ^a,b  

^a ULLEVÅL UNIVERSITY HOSPITAL   (Norway)

^b UNIVERSITY OF OSLO   (Norway)

^c UNIVERSITY OF BARI   (Italy)

^d INNLANDET HOSPITAL TRUST   (Norway)

Author keywords

Cognitive impairment; FGF14; Inherited translocation; Microcephaly; SCA27

Indexed keywords

FIBROBLAST GROWTH FACTOR; FIBROBLAST GROWTH FACTOR 14; ISOPROTEIN;

ADOLESCENT; ADULT; ANIMAL; ARTICLE; CASE REPORT; CHROMOSOME 13; CHROMOSOME 5; GENE TRANSLOCATION; GENETICS; HUMAN; KARYOTYPING; MALE; MENTAL DEFICIENCY; MOLECULAR GENETICS; MOUSE; MOUSE MUTANT; MUTATION; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PHENOTYPE; PRESCHOOL CHILD; SPINOCEREBELLAR DEGENERATION;

ADOLESCENT; ADULT; ANIMALS; BASE SEQUENCE; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 13; CHROMOSOMES, HUMAN, PAIR 5; FIBROBLAST GROWTH FACTORS; HUMANS; KARYOTYPING; MALE; MENTAL RETARDATION; MICE; MICE, KNOCKOUT; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; PROTEIN ISOFORMS; SPINOCEREBELLAR ATAXIAS; TRANSLOCATION, GENETIC;

EID: 79958112503     PISSN: 13646745     EISSN: 13646753     Source Type: Journal    
DOI: 10.1007/s10048-009-0197-x     Document Type: Article

References (8)

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