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
收藏
页码：6664 / 6666
页数：3
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