CLINICAL AND GENETIC SPECTRUM OF PATIENTS WITH BAG3-RELATED NEUROMUSCULAR DISORDERS IN EUROPE

被引：0

作者：

Fernandez-Eulate, Gorka ^{[1
]}

Gitiaux, Cyril ^{[2
]}

Thiele, Simone ^{[3
]}

Jungbluth, Heinz ^{[4
]}

Audic, Frederique ^{[5
]}

Potulska-Chromik, Anna ^{[6
]}

Marini-Bettolo, Chiara ^{[7
,8
]}

Davion, Jean Baptiste ^{[9
]}

Moris de la Tassa, German ^{[10
]}

Olive, Montse ^{[11
]}

Pablo de Fuenmayor-Fernandez de la Hoz, Carlos ^{[12
]}

Isapof, Arnaud ^{[13
]}

Topf, Ana ^{[7
,8
]}

Walter, Maggie ^{[3
]}

Angelini, Corrado ^{[14
]}

Claeys, Kristl ^{[15
]}

Kostera-Pruszczyk, Anna ^{[6
]}

Attarian, Shahram ^{[16
]}

Straub, Volker ^{[7
,8
]}

Dominguez-Gonzalez, Cristina ^{[12
]}

Vissing, John ^{[17
]}

Metay, Corinne ^{[1
]}

Khraiche, Diala ^{[2
]}

Wahbi, Karim ^{[18
]}

Stojkovic, Tanya ^{[19
]}

机构：

[1] Hop La Pitie Salpetriere, Paris, France

[2] Necker Enfants Malad Hosp, Paris, France

[3] Ludwig Maximilians Univ Munchen, Dept Neurol, Friedrich Baur Inst, Munich, Germany

[4] Guys & St Thomas Hosp NHS Fdn Trust, London, England

[5] Timone Enfants Hosp, Marseille, France

[6] Med Univ Warsaw, Warsaw, Poland

[7] Newcastle Univ, Newcastle, England

[8] Newcastle Hosp NHS Fdn Trust, Newcastle, England

[9] CHU Lille, Lille, France

[10] Hosp Univ Cent Asturias, Oviedo, Spain

[11] Hosp Santa Creu & Sant Pau, Barcelona, Spain

[12] Hosp Univ 12 Octubre, Madrid, Spain

[13] Armand Trousseau Hosp, Paris, France

[14] Univ Padua, Padua, Italy

[15] Univ Hosp Leuven, Dept Neurol, Leuven, Netherlands

[16] AP HM, Marseille, France

[17] Univ Copenhagen, Copenhagen Neuromuscular Ctr, Rigshosp, Copenhagen, Denmark

[18] Cochin Hosp, Paris, France

[19] Sorbonne Univ, Inst Myol, Pitie Salpetriere Hosp, Paris, France

来源：

JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM | 2024年 / 29卷

关键词：

CMT; natural history; genetics; autophagy; neuromyopathy;

D O I：

暂无

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

P 049

引用

页码：S20 / S21

页数：2

共 3 条

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[3] Mutations in BAG3 cause adult-onset Charcot-Marie-Tooth disease [J].

Shy, Michael ;

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