Next-generation sequencing: a decisive diagnostic aid for atypical Wilson's disease

被引：1

作者：

Jardel, Amory ^{[1
]}

Bonnet, Celine ^{[2
,3
]}

Frismand-Kryloff, Solene ^{[1
]}

Ravel, Jean Marie ^{[2
,3
]}

Schmitt, Emmanuelle ^{[4
]}

Obadia, Mickael Alexandre ^{[5
]}

Delassaux, Sebastien ^{[6
]}

Bronner, Myriam ^{[2
]}

Poujois, Aurelia ^{[5
,7
]}

Renaud, Mathilde ^{[1
,3
,8
]}

机构：

[1] CHRU Nancy, Serv Neurol, Nancy, France

[2] CHRU Nancy, Lab Genet Med, Nancy, France

[3] Univ Lorraine, Inserm U1256, NGERE, F-54000 Nancy, France

[4] CHRU Nancy, Serv Neuroradiol, Nancy, France

[5] Hop Fondat Adolphe Rothschild, Serv Neurol, Paris, France

[6] Ctr Hosp Emile Durkheim Epinal, Epinal, France

[7] Hop Fdn Adolphe Rothschild, Ctr Reference Malad Wilson & Autres Malad Rares L, Serv Neurol, 29 rue Manin, F-75019 Paris, France

[8] CHRU Nancy, Serv Genet Med, Nancy, France

来源：

JOURNAL OF NEUROLOGY | 2022年 / 269卷 / 12期

关键词：

COPPER;

D O I：

10.1007/s00415-022-11270-0

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：6664 / 6666

页数：3

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