A novel ferritin light chain gene mutation in a Japanese family with neuroferritinopathy: Description of clinical features and implications for genotype-phenotype correlations-Reference-Cited by-同舟云学术

A novel ferritin light chain gene mutation in a Japanese family with neuroferritinopathy: Description of clinical features and implications for genotype-phenotype correlations

Published:2008-12-31 Issue:3 Volume:24 Page:441-445
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Mov. Disord.

Author:

Kubota Akatsuki,Hida Ayumi,Ichikawa Yaeko,Momose Yoshio,Goto Jun,Igeta Yukifusa,Hashida Hideji,Yoshida Kunihiro,Ikeda Syu-Ichi,Kanazawa Ichiro,Tsuji Shoji

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Reference10 articles.

1. Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease;Curtis;Nat Genet,2001

2. Neuroferritinopathy: a neurodegenerative disorder associated with L-ferritin mutation;Levi;Best Pract Res Clin Haematol,2005

3. Hereditary ferritinopathy: a novel mutation, its cellular pathology, and pathogenetic insights;Mancuso;J Neuropathol Exp Neurol,2005

4. Intracellular ferritin accumulation in neural and extraneural tissue characterizes a neurodegenerative disease associated with a mutation in the ferritin light polypeptide gene;Vidal;J Neuropathol Exp Neurol,2004

5. Preliminary observation of elevated levels of nanocrystalline iron oxide in the basal ganglia of neuroferritinopathy patients;Hautot;Biochim Biophys Acta,2007

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