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

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia

HPDL基因的双等位基因变异会导致纯粹型和复杂性遗传性痉挛性截瘫。

Manuela Wiessner,Reza Maroofian,Meng-Yuan Ni,Andrea Pedroni,Juliane S Müller,Rolf Stucka,Christian Beetz,Stephanie Efthymiou,Filippo M Santorelli,Ahmed A Alfares,Changlian Zhu,Isabella Ceccherini,Michele Iacomino,Federico Zara,Vincenzo Salpietro,Marcello Scala,Marta Rusmini,Yiran Xu,Yinghong Wang,Yasuhiro Suzuki,Kishin Koh,Haitian Nan,Hiroyuki Ishiura,Shoji Tsuji,Laëtitia Lambert,Emmanuelle Schmitt,Elodie Lacaze,Hanna Küpper,David Dredge,Cara Skraban,Amy Goldstein,Mary J H Willis,Katheryn Grand,John M Graham,Richard A Lewis,Francisca Millan,Özgür Duman,Nihal Dündar,Gökhan Uyanik,Ludger Schöls,Peter Nürnberg,Gudrun Nürnberg,Andrea Catala Bordes,Pavel Seeman,Martin Kuchar,Hossein Darvish,Adriana Rebelo,Filipa Bouçanova,Jean-Jacques Medard,Roman Chrast,Michaela Auer-Grumbach,Fowzan S Alkuraya,Hanan Shamseldin,Saeed Al Tala,Jamileh Rezazadeh Varaghchi,Maryam Najafi,Selina Deschner,Dieter Gläser,Wolfgang Hüttel,Michael C Kruer,Erik-Jan Kamsteeg,Yoshihisa Takiyama,Stephan Züchner,Jonathan Baets,Rebecca Schüle,Rita Horvath,Henry Houlden,Luca Bartesaghi,Hwei-Jen Lee,Konstantinos Ampatzis,Tyler Mark Pierson,Jan Senderek

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

In-depth phenotyping of lymphoblastoid cells suggests selective cellular vulnerability in Marinesco-Sjögren syndrome

淋巴母细胞的深入表型分析表明 Marinesco-Sjögren 综合征具有选择性细胞脆弱性

Laxmikanth Kollipara, Stephan Buchkremer, José Andrés González Coraspe, Denisa Hathazi, Jan Senderek, Joachim Weis, René P Zahedi, Andreas Roos

Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome

先天性肌无力综合征患者 MYO9A 基因突变的鉴定

Emily O'Connor, Ana Töpf, Juliane S Müller, Daniel Cox, Teresinha Evangelista, Jaume Colomer, Angela Abicht, Jan Senderek, Oswald Hasselmann, Ahmet Yaramis, Steven H Laval, Hanns Lochmüller

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

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

RNA 外泌体成分基因 EXOSC3 突变导致小脑桥脑发育不全和脊髓运动神经元退化

Jijun Wan, Michael Yourshaw, Hafsa Mamsa, Sabine Rudnik-Schöneborn, Manoj P Menezes, Ji Eun Hong, Derek W Leong, Jan Senderek, Michael S Salman, David Chitayat, Pavel Seeman, Arpad von Moers, Luitgard Graul-Neumann, Andrew J Kornberg, Manuel Castro-Gago, María-Jesús Sobrido, Masafumi Sanefuji, Perry

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