Molecular genetic study in Japanese patients with Alexander disease: a novel mutation, R79L. (Q44312141)

1 December 2017

title

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

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1 December 2017

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Naohide Shiroma

1

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1 December 2017

Naomi Kanazawa

2

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1 December 2017

Zenichiro Kato

3

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1 December 2017

Nobuyuki Shimozawa

4

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1 December 2017

Atsushi Imamura

5

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1 December 2017

Masayuki Ito

6

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Kyoich Ohtani

7

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Akira Oka

8

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1 December 2017

Kazuyo Wakabayashi

9

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1 December 2017

Mizue Iai

10

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1 December 2017

Kenji Sugai

11

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1 December 2017

Masayuki Sasaki

12

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1 December 2017

Makiko Kaga

13

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1 December 2017

Takao Ohta

14

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1 December 2017

Seiichi Tsujino

15

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1 December 2017

language of work or name

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1 March 2003

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1 December 2017

published in

Brain and Development

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1 December 2017

volume

25

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1 December 2017

issue

2

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1 December 2017

page(s)

116-121

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

1 December 2017

cites work

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https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900167-5

7 January 2021

Alexander disease--classification revisited and isolation of a neonatal form

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https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900167-5

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900167-5

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900167-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900167-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900167-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900167-5

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%2FS0387-7604%2802%2900167-5

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%2FS0387-7604%2802%2900167-5

7 January 2021

Autosomal dominant palatal myoclonus and spinal cord atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0387-7604%2802%2900167-5

7 January 2021

10.1016/S0387-7604(02)00167-5

Identifiers

DOI

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1 December 2017

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