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

Association of A Novel Splice Site Mutation in P/Q-Type Calcium Channels with Childhood Epilepsy and Late-Onset Slowly Progressive Non-Episodic Cerebellar Ataxia

P/Q 型钙通道新型剪接位点突变与儿童癫痫和晚发性缓慢进展性非发作性小脑共济失调的关系

Claudia Stendel, Maria Cristina D'Adamo, Manuela Wiessner, Marina Dusl, Marta Cenciarini, Silvia Belia, Ehsan Nematian-Ardestani, Peter Bauer, Jan Senderek, Thomas Klopstock, Mauro Pessia

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

PRDM12 Is Required for Initiation of the Nociceptive Neuron Lineage during Neurogenesis

PRDM12 是神经发生过程中启动痛觉神经元谱系所必需的

Luca Bartesaghi, Yiqiao Wang, Paula Fontanet, Simone Wanderoy, Finja Berger, Haohao Wu, Natalia Akkuratova, Filipa Bouçanova, Jean-Jacques Médard, Charles Petitpré, Mark A Landy, Ming-Dong Zhang, Philip Harrer, Claudia Stendel, Rolf Stucka, Marina Dusl, Maria Eleni Kastriti, Laura Croci, Helen C Lai

Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration

微管蛋白去谷氨酰酶 CCP1 的缺失导致婴儿期神经退行性疾病

Vandana Shashi, Maria M Magiera, Dennis Klein, Maha Zaki, Kelly Schoch, Sabine Rudnik-Schöneborn, Andrew Norman, Osorio Lopes Abath Neto, Marina Dusl, Xidi Yuan, Luca Bartesaghi, Patrizia De Marco, Ahmed A Alfares, Ronit Marom, Stefan T Arold, Francisco J Guzmán-Vega, Loren Dm Pena, Edward C Smith, 

Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients

先天性重症肌无力综合征伴发作性呼吸暂停:19例患者长期随访的临床、神经生理和遗传特征

McMacken, Grace; Whittaker, Roger G; Evangelista, Teresinha; Abicht, Angela; Dusl, Marina; Lochmüller, Hanns

A 3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome

3'-UTR 突变在先天性肌无力综合征患者的 GFPT1 基因中产生 microRNA 靶位

Marina Dusl, Jan Senderek, Juliane S Müller, Johannes G Vogel, Anja Pertl, Rolf Stucka, Hanns Lochmüller, Robert David, Angela Abicht

Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect

己糖胺生物合成途径突变导致神经肌肉传递缺陷

Jan Senderek, Juliane S Müller, Marina Dusl, Tim M Strom, Velina Guergueltcheva, Irmgard Diepolder, Steven H Laval, Susan Maxwell, Judy Cossins, Sabine Krause, Nuria Muelas, Juan J Vilchez, Jaume Colomer, Cecilia Jimenez Mallebrera, Andres Nascimento, Shahriar Nafissi, Ariana Kariminejad, Yalda Nili