Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Glu528del in NEFL is a polymorphic variant rather than a disease-causing mutation for Charcot-Marie-Tooth disease in Japan.

Literature DB >> 14586770

Glu528del in NEFL is a polymorphic variant rather than a disease-causing mutation for Charcot-Marie-Tooth disease in Japan.

Masahiko Yamamoto, Tsuyoshi Yoshihara, Naoki Hattori, Gen Sobue.

Abstract

Entities: Disease Gene Mutation

Mesh：

Substances：

Year: 2003 PMID： 14586770 DOI： 10.1007/s10048-003-0159-7

Source DB: PubMed Journal: Neurogenetics ISSN： 1364-6745 Impact factor: 2.660

× No keyword cloud information.

7 in total

1. A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene.

Authors: I V Mersiyanova; A V Perepelov; A V Polyakov; V F Sitnikov; E L Dadali; R B Oparin; A N Petrin; O V Evgrafov
Journal: Am J Hum Genet Date: 2000-06-07 Impact factor: 11.025

2. Gene-based SNP discovery as part of the Japanese Millennium Genome Project: identification of 190,562 genetic variations in the human genome. Single-nucleotide polymorphism.

Authors: Hisanori Haga; Ryo Yamada; Yozo Ohnishi; Yusuke Nakamura; Toshihiro Tanaka
Journal: J Hum Genet Date: 2002 Impact factor: 3.172

3. Identification of novel sequence variants in the neurofilament-light gene in a Japanese population: analysis of Charcot-Marie-Tooth disease patients and normal individuals.

Authors: Tsuyoshi Yoshihara; Masahiko Yamamoto; Naoki Hattori; Ken-ichiro Misu; Keiko Mori; Haruki Koike; Gen Sobue
Journal: J Peripher Nerv Syst Date: 2002-12 Impact factor: 3.494

4. Effects of Charcot-Marie-Tooth-linked mutations of the neurofilament light subunit on intermediate filament formation.

Authors: Raul Perez-Olle; Conrad L Leung; Ronald K H Liem
Journal: J Cell Sci Date: 2002-12-15 Impact factor: 5.285

5. Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E.

Authors: P De Jonghe; I Mersivanova; E Nelis; J Del Favero; J J Martin; C Van Broeckhoven; O Evgrafov; V Timmerman
Journal: Ann Neurol Date: 2001-02 Impact factor: 10.422

6. Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.

Authors: A Jordanova; P De Jonghe; C F Boerkoel; H Takashima; E De Vriendt; C Ceuterick; J-J Martin; I J Butler; P Mancias; S Ch Papasozomenos; D Terespolsky; L Potocki; C W Brown; M Shy; D A Rita; I Tournev; I Kremensky; J R Lupski; V Timmerman
Journal: Brain Date: 2003-03 Impact factor: 13.501

7. Neurofilaments are obligate heteropolymers in vivo.

Authors: M K Lee; Z Xu; P C Wong; D W Cleveland
Journal: J Cell Biol Date: 1993-09 Impact factor: 10.539

7 in total

3 in total