(Q44612868)

4 December 2017

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

1 reference

4 December 2017

1 reference

Takashi Kinoshita

1

1 reference

4 December 2017

Toshihiro Imaizumi

2

1 reference

4 December 2017

Yumiko Miura

3

1 reference

4 December 2017

Hiroshi Fujimoto

4

1 reference

4 December 2017

Mitsuyoshi Ayabe

5

1 reference

4 December 2017

Hiroshi Shoji

6

1 reference

4 December 2017

Yuji Okamoto

7

1 reference

4 December 2017

Hiroshi Takashima

8

1 reference

4 December 2017

Mitsuhiro Osame

9

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4 December 2017

Masanori Nakagawa

10

1 reference

4 December 2017

language of work or name

English

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publication date

1 October 2003

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4 December 2017

30 October 2003

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=14550921

full work available at URL

20 March 2024

https://api.elsevier.com/content/article/PII:S0304394003009005?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1016/S0304-3940(03)00900-5

https://api.elsevier.com/content/article/PII:S0304394003009005?httpAccept=text/plain

20 March 2024

1 reference

https://api.crossref.org/works/10.1016/S0304-3940(03)00900-5

20 March 2024

1 reference

4 December 2017

350

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4 December 2017

3

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4 December 2017

169-172

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

4 December 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2803%2900900-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2803%2900900-5

7 January 2021

Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2803%2900900-5

7 January 2021

Hereditary branchial myoclonus with spastic paraparesis and cerebellar ataxia: A new autosomal dominant disorder

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2803%2900900-5

7 January 2021

Molecular findings in symptomatic and pre-symptomatic Alexander disease patients.

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2803%2900900-5

7 January 2021

A familial disorder associated with palatal myoclonus, other brainstem signs, tetraparesis, ataxia and Rosenthal fibre formation

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2803%2900900-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2803%2900900-5

7 January 2021

GFAP mutations in Alexander disease

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2803%2900900-5

7 January 2021

Infantile Alexander disease: a GFAP mutation in monozygotic twins and novel mutations in two other patients

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2803%2900900-5

7 January 2021

Identification of GFAP gene mutation in hereditary adult-onset Alexander's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2803%2900900-5

7 January 2021

Autosomal dominant palatal myoclonus and spinal cord atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2803%2900900-5

7 January 2021

Alexander's disease: clues to diagnosis.

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2803%2900900-5

7 January 2021

Atypical focal MRI lesions in a case of juvenile Alexander's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2803%2900900-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2803%2900900-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2803%2900900-5

7 January 2021

Hereditary adult-onset Alexander's disease with palatal myoclonus, spastic paraparesis, and cerebellar ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2803%2900900-5

7 January 2021

Fluctuation of computed tomographic findings in white matter in Alexander's disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2803%2900900-5

7 January 2021

Diagnosis of Alexander disease in a Japanese patient by molecular genetic analysis.

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2803%2900900-5

7 January 2021

Molecular genetic study in Japanese patients with Alexander disease: a novel mutation, R79L.

1 reference

https://api.crossref.org/works/10.1016%2FS0304-3940%2803%2900900-5

7 January 2021

Alexander disease: a case report and review of the literature

14

1 reference

https://api.crossref.org/works/10.1016/S0304-3940(03)00900-5

20 March 2024

Identifiers

1 reference

4 December 2017

1 reference