设为首页
收藏本站
网站地图
|
English
|
公务邮箱
About the library
Background
History
Leadership
Organization
Readers' Guide
Opening Hours
Collections
Help Via Email
Publications
Electronic Information Resources
常用资源
电子图书
期刊论文
学位会议
外文资源
特色专题
内部出版物
SpringerLink电子期刊(1)
在“
SpringerLink电子期刊
”中,
命中:
1
条,耗时:小于0.01 秒
在所有数据库中总计命中:
1
条
1.
The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test
作者:
Alexia Boizot (1) (2)
Yasmina Talmat-Amar (1) (2)
Deborah Morrogh (3)
Nancy L Kuntz (4)
Cecile Halbert (5)
Brigitte
Chabrol
(5)
Henry Houlden (6)
Tanya Stojkovic (7)
Brenda A Schulman (8)
Bernd Rautenstrauss (10) (9)
Pascale Bomont (1) (2)
1. Atip-Avenir team
;
Inserm U1051
;
Institut des Neurosciences de Montpellier
;
Montpellier
;
France
2. Universit茅 de Montpellier1&2
;
Montpellier
;
France
3. NE Thames Regional Genetics Service
;
Great Ormond Street Hospital
;
York House Queen Square
;
London
;
UK
4. Northwestern University Feinberg School of Medicine
;
Chicago
;
USA
5. Service de Neurologie P茅diatrique
;
H么pital d鈥橢nfants
;
CHU Timone
;
Marseille
;
France
6. Department of Molecular Neuroscience and The MRC centre for Neuromuscular Diseases
;
Institute of Neurology
;
Queen Square
;
London
;
UK
7. AP-HP
;
G-H Piti茅-Salp锚tri猫re
;
Institut de Myologie
;
Paris
;
France
8. Howard Hughes Medical Institute
;
Department of Structural Biology
;
St. Jude Children鈥檚 Research Hospital
;
Memphis
;
Tennessee
;
USA
10. Ludwig-Maximilians-University Friedrich-Baur-Institut
;
M眉nchen
;
Germany
9. Medizinisch Genetisches Zentrum Bayerstrasse
;
M眉nchen
;
Germany
关键词:
CMT2
;
GAN
;
Diagnosis
;
Gigaxonin
;
E3 ligase
;
Modelization
;
Instability
刊名:Acta Neuropathologica Communications
出版年:2014
1
按出版年细分(1)
2014年(1)
NGLC 2004-2010.National Geological Library of China All Rights Reserved.
Add:29 Xueyuan Rd,Haidian District,Beijing,PRC. Mail Add: 8324 mailbox 100083
For exchange or info please contact us via
email
.