(Q51037191)

27 March 2018

title

Glial fibrillary acidic protein mutations in adult-onset Alexander disease: clinical features observed in 12 Japanese patients. (English)

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7

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author name string

T Yoshida

1

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27 March 2018

H Sasayama

2

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I Mizuta

3

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Y Okamoto

4

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M Yoshida

5

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Y Riku

6

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T Yonezu

8

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Y Takata

9

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K Ohnari

10

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S Okuda

11

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I Aiba

12

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M Nakagawa

13

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language of work or name

English

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publication date

16 September 2010

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27 March 2018

Acta Neurologica Scandinavica

published in

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volume

124

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issue

2

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page(s)

104-108

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27 March 2018

Progressive fibrinoid degeneration of fibrillary astrocytes associated with mental retardation in a hydrocephalic infant.

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X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling

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Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease

21 January 2018

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Alexander disease: ventricular garlands and abnormalities of the medulla and spinal cord

21 January 2018

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Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature

21 January 2018

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Autosomal dominant palatal myoclonus and spinal cord atrophy

21 January 2018

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A case of adult-onset Alexander disease with Arg416Trp human glial fibrillary acidic protein gene mutation

21 January 2018

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An adult form of Alexander disease: a novel mutation in glial fibrillary acidic protein

21 January 2018

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Adult Alexander's disease without leukoencephalopathy

21 January 2018

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Alexander disease with hypothermia, microcoria, and psychiatric and endocrine disturbances.

21 January 2018

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Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation

21 January 2018

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Molecular findings in symptomatic and pre-symptomatic Alexander disease patients

21 January 2018

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An infantile case of Alexander disease unusual for its MRI features and a GFAP allele carrying both the p.Arg79His mutation and the p.Glu223Gln coding variant

21 January 2018

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Alexander disease as a cause of nocturnal vomiting in a 7-year-old girl

21 January 2018

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Adult Alexander disease with autosomal dominant transmission: a distinct entity caused by mutation in the glial fibrillary acid protein gene

21 January 2018

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Can MR imaging diagnose adult-onset Alexander disease?

21 January 2018

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GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease

21 January 2018

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10.1111/J.1600-0404.2010.01427.X

21 January 2018

Identifiers

DOI

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27 March 2018

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27 March 2018