Clinicogenetical features of a Japanese patient with giant axonal neuropathy-Reference-Cited by-同舟云学术

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Clinicogenetical features of a Japanese patient with giant axonal neuropathy

Published:2012-02 Issue:2 Volume:34 Page:156-162
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

Akagi Motohiro,Mohri Ikuko,Iwatani Yoshiko,Kagitani-Shimono Kuriko,Okinaga Takeshi,Sakai Norio,Ozono Keiichi,Taniike Masako

Publisher

Elsevier BV

Subject

Clinical Neurology,Developmental Neuroscience,General Medicine,Pediatrics, Perinatology, and Child Health

Reference10 articles.

1. The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy;Bomont;Nat Genet,2000

2. A case of giant axonal neuropathy showing focal aggregation and hypophosphorylation of intermediate filaments;Mohri;Brain Dev,1998

3. Identification of seven novel mutations in the GAN gene;Bomont;Hum Mutat,2003

4. Clinical and molecular findings in patients with giant axonal neuropathy (GAN);Bruno;Neurology,2004

5. Giant axonal neuropathy: clinical and genetic study in six cases;Demir;J Neurol Neurosurg Psychiatry,2005

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