Defining the landscape of TIA1 and SQSTM1 digenic myopathy

被引：0
|
作者：
Fernandez-Eulate, G. [1 ]
Panos-Basterra, P. [2 ]
Theuriet, J. [3 ]
Nadaj-Pakleza, A. [4 ]
Magot, A. [5 ]
Lannes, B. [6 ]
Marcorelles, P. [7 ]
Behin, A. [1 ]
Masingue, M. [1 ]
Caillon, F. [8 ]
Malek, Y. [3 ]
Fenouil, T. [9 ]
Bas, J. [10 ]
Menassa, R. [11 ]
Michel-Calemard, L. [11 ]
Streichenberger, N. [9 ]
Simon, J. [12 ]
Bouhour, F. [3 ]
Evangelista, T. [1 ]
Metay, C. [13 ]
Pegat, A. [3 ]
Stojkovic, T. [1 ]
机构：
[1] Hop La Pitie Salpetriere, AP HP, Inst Myol, Ctr Reference Malad Neuromusculaires Nord Est Ile, Paris, France
[2] Princesa Univ Hosp, Dept Neurol, Madrid, Spain
[3] Hosp Civils Lyon, Ctr Reference Malad Neuromusculaires PACA Reunion, Serv ENMG & Pathol Neuromusculaires, Hop Neurol P Wertheimer, Bron, France
[4] Hop Univ Strasbourg, Ctr Reference Malad Neuromusculaires Nord Est Ile, Serv Neurol, ERN EURO NMD, Strasbourg, France
[5] CHU Nantes, Ctr Reference Malad Neuromusculaires AOC, Lab Explorat Fonct, FILNEMUS,Hotel Dieu, Nantes, France
[6] Hop Univ Strasbourg, Dept Pathol, Strasbourg, France
[7] Hop Univ Brest, Dept Pathol, Brest, France
[8] CHU Nantes, Serv Radiol & Imagerie Med, Hotel Dieu, Nantes, France
[9] Hosp Civils Lyon, Ctr Biol & Pathol Est, Serv Anathomopath, Bron, France
[10] Ctr Hosp Valence, Serv Neurol, Valence, France
[11] Hosp Civils Lyon, Ctr Biol & Pathol Est, Serv Biochim & Biol Mol, Bron, France
[12] Hosp Civils Colmar, Serv Neurol, Colmar, France
[13] Hop La Pitie Salpetriere, AP HP, Unite Fonct Cardiogenet & Myogenet Mol & Cellulai, Ctr Genet Mol & Chromosom, Paris, France
来源：
NEUROMUSCULAR DISORDERS | 2024年 / 43卷
关键词：
D O I：
10.1016/j.nmd.2024.07.433
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
70P
引用
收藏
页数：2
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