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：

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

页码：1280 / 1282

页数：3

共 2 条