نتایج جستجو برای: charcot marie tooth

تعداد نتایج: 97261  

Journal: :médecine/sciences 2010

Journal: :Current Neurology and Neuroscience Reports 2010

Journal: :Journal of Neuropathology & Experimental Neurology 2005

Journal: :Current Opinion in Neurology 2015

Journal: :Journal of Medical Genetics 1992

Journal: :Journal of Clinical Neurophysiology 2017

2014
Ruxu Zhang Fufeng Zhang Xiaobo Li Shunxiang Huang Xiaohong Zi Ting Liu Sanmei Liu Xuning Li Kun Xia Qian Pan Beisha Tang

We previously found that the K141N mutation in heat shock protein B8 (HSPB8) was responsible for Charcot-Marie-Tooth disease type 2L in a large Chinese family. The objective of the present study was to generate a transgenic mouse model bearing the K141N mutation in the human HSPB8 gene, and to determine whether this (K141N)HSPB8 transgenic mouse model would manifest the clinical phenotype of Ch...

Journal: :Journal of Neurology, Neurosurgery & Psychiatry 1999

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