Novel Biallelic CTSD Gene Variants Cause Late-Onset Ataxia and Retinitis Pigmentosa

被引：3
|
作者：
Regensburger, Martin [1 ,2 ,3 ]
Minakaki, Georgia [1 ,9 ]
Kettwig, Matthias [4 ]
Huchzermeyer, Cord [5 ]
Eisenhut, Felix [6 ]
Haack, Tobias B. [7 ]
Kohl, Zacharias [1 ,8 ]
Winkler, Juergen [1 ]
机构：
[1] Friedrich Alexander Univ Erlangen Nurnberg FAU, Dept Mol Neurol, Schwabachanlage 6, D-91054 Erlangen, Germany
[2] FAU, Dept Neurol, Erlangen, Germany
[3] FAU, Dept Stem Cell Biol, Erlangen, Germany
[4] Georg August Univ Gottingen, Univ Med Ctr Gottingen, Dept Pediat & Pediat Neurol, Gottingen, Germany
[5] FAU, Dept Ophthalmol, Erlangen, Germany
[6] FAU, Dept Neuroradiol, Erlangen, Germany
[7] Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, Germany
[8] Univ Regensburg, Dept Neurol, Regensburg, Germany
[9] Northwestern Univ, Dept Neurol, Chicago, IL 60611 USA
来源：
MOVEMENT DISORDERS | 2020年 / 35卷 / 07期
关键词：
CATHEPSIN-D DEFICIENCY;
D O I：
10.1002/mds.28106
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
引用
收藏
页码：1280 / 1282
页数：3
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