日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

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

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

A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms

一名患有低钾性周期性麻痹和中枢神经系统症状的患者被发现存在一种新的ATP1A2基因突变

Sampedro Castañeda, Marisol; Zanoteli, Edmar; Scalco, Renata S; Scaramuzzi, Vinicius; Marques Caldas, Vitor; Conti Reed, Umbertina; da Silva, Andre Macedo Serafim; O'Callaghan, Benjamin; Phadke, Rahul; Bugiardini, Enrico; Sud, Richa; McCall, Samuel; Hanna, Michael G; Poulsen, Hanne; Männikkö, Roope; Matthews, Emma