Juvenile Alexander disease with a novel mutation in glial fibrillary acidic protein gene

Neurology

Volumn 58, Issue 10, 2002, Pages 1541-1543

  Sawaishi, Yukio ^a   Yano, Tamami ^a   Takaku, Iwao ^a   Takada, Goro ^a  

^a AKITA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

GLIAL FIBRILLARY ACIDIC PROTEIN;

ADOLESCENT; ALEXANDER DISEASE; ARTICLE; CASE REPORT; CORRELATION ANALYSIS; GENE MUTATION; HUMAN; MALE; MOLECULAR BIOLOGY; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL;

EID: 0037188387     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.58.10.1541     Document Type: Article

References (10)

1. Chaperone activity of α-crystallins modulates intermediate filament assembly
2. Accumulation of alpha B-crystallin in brains of patients with Alexander's disease is not due to an abnormality of the 5′-flanking and coding sequence of the genomic DNA
3. Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease
4. Infantile Alexander disease: Spectrum of GFAP mutations and genotype-phenotype correlation
5. Positron emission tomography in juvenile Alexander disease
6. Diagnosis of Alexander disease in a Japanese patient by molecular genetic analysis
7. A novel mutation in glial fibrillary acidic protein gene in a patient with Alexander disease
8. Alexander disease: New insights from genetics
9. A novel glutamic acid to aspartic acid mutation near the end of the 2B rod domain in the keratin 1 chain in epidermolytic hyperkeratosis
10. The intermediate filament protein consensus motif of helix 2B: Its atomic structure and contribution to assembly