HPCA-related dystonia: Too rare to be found?

被引：9

作者：

Dobricic, Valerija ^{[1
]}

Kresojevic, Nikola ^{[1
]}

Marjanovic, Ana ^{[1
]}

Tomic, Aleksandra ^{[1
]}

Svetel, Marina ^{[1
]}

Novakovic, Ivana ^{[2
]}

Kostic, Vladimir S. ^{[1
]}

机构：

[1] Univ Belgrade, Inst Neurol CCS, Sch Med, Dr Subotica 6, Belgrade 11000, Serbia

[2] Univ Belgrade, Inst Human Genet, Fac Med, Belgrade, Serbia

来源：

MOVEMENT DISORDERS | 2016年 / 31卷 / 07期

关键词：

HPCA; isolated dystonia; screening;

D O I：

10.1002/mds.26634

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

[No abstract available]

引用

页码：1071 / 1071

页数：1

共 6 条

[1]

Klein C., Genetics in dystonia, Parkinsonism Relat Disord, 20, pp. S137-S142, (2014)

[2]

Ma L.Y., Wang L., Yang Y.M., Feng T., Wan X.H., Mutations in ANO3 and GNAL gene in thirty-three isolated dystonia families, Mov Disord, 30, pp. 743-744, (2015)

[3]

Charlesworth G., Angelova P.R., Bartolome-Robledo F., Et al., Mutations in HPCA cause autosomal-recessive primary isolated dystonia, Am J Hum Genet, 96, pp. 1-9, (2015)

[4]

Albanese A., Bhatia K., Bressman S.B., Et al., Phenomenology and classification of dystonia: a consensus update, Mov Disord, 28, pp. 863-873, (2013)

[5]

National Center for Biotechnology Information, National Library of Medicine, (2015)

[6]

Erro R., Klein C., DYT2 Revealed: Hippocalcin Mutations Cause Autosomal-Ressive isolated dystonia, Mov Disord, (2015)

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