The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations
由COL13A1基因突变引起的先天性重症肌无力综合征的临床表现谱
期刊:Brain
影响因子:11.7
doi:10.1093/brain/awz107
Rodríguez Cruz, Pedro M; Cossins, Judith; Estephan, Eduardo de Paula; Munell, Francina; Selby, Kathryn; Hirano, Michio; Maroofin, Reza; Mehrjardi, Mohammad Yahya Vahidi; Chow, Gabriel; Carr, Aisling; Manzur, Adnan; Robb, Stephanie; Munot, Pinki; Wei Liu, Wei; Banka, Siddharth; Fraser, Harry; De Goede, Christian; Zanoteli, Edmar; Conti Reed, Umbertina; Sage, Abigail; Gratacos, Margarida; Macaya, Alfons; Dusl, Marina; Senderek, Jan; Töpf, Ana; Hofer, Monika; Knight, Ravi; Ramdas, Sithara; Jayawant, Sandeep; Lochmüller, Hans; Palace, Jacqueline; Beeson, David