Mutations in SPG7 as an important cause of spastic-ataxia in a large british cohort: Hybrid phenotype helps direct screening

被引：0
|
作者：
Hewamadduma, C. A. [1 ]
Omalley, R. [2 ]
Robinson, M. [2 ]
Beauchamp, N. [3 ]
Rogers, T. [4 ]
Martindale, J. [3 ]
Mcdermott, C. [4 ]
Shaw, P. [4 ]
Hoggard, N. [5 ]
Hadjivassiliou, M. [6 ]
机构：
[1] Royal Hallamshire Hosp, Acad Neurol Unit, Sheffield, S Yorkshire, England
[2] Royal Hallamshire Hosp Sheffield, Acad Neurol, Sheffield, S Yorkshire, England
[3] Sheffield Childrens Hosp, Dept Mol Genet, Sheffield, S Yorkshire, England
[4] Univ Sheffield, SITRAN, Sheffield, S Yorkshire, England
[5] Royal Hallamshire Hosp, Dept Neuro Radiol, Sheffield, S Yorkshire, England
[6] Univ Sheffield, Acad Neurol Unit, Sheffield, S Yorkshire, England
来源：
JOURNAL OF THE NEUROLOGICAL SCIENCES | 2017年 / 381卷
关键词：
D O I：
10.1016/j.jns.2017.08.864
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
836
引用
收藏
页码：304 / 305
页数：2
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