期刊
GLIA
卷 56, 期 14, 页码 1578-1589出版社
WILEY
DOI: 10.1002/glia.20751
关键词
mutation; myelin; signal transduction; Schwann cell; transcription
资金
- NIH
- The Charcot-Marie-Tooth Association
- The Muscular Dystrophy Association
- The National Multiple Sclerosis Society. Telethon. Italy
- The European Community
The past 15 years have witnessed the identification of more than 25 genes responsible for inherited neuropathies in humans, many associated with primary alterations of the myelin sheath. A remarkable body of work in patients, as well as animal and cellular models, has defined the clinical and molecular genetics of these illnesses and shed light on how mutations in associated genes produce the heterogeneity of dysmyelinating and demyelinating phenotypes. Here, we review selected recent developments from work on the molecular mechanisms of these disorders and their implications for treatment strategies. (c) 2008 Wiley-Liss, Inc.
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