Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness-Reference-Cited by-同舟云学术

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

Published:2020-09 Issue:9 Volume:22 Page:1478-1488
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Töpf Ana^ORCID,Johnson Katherine,Bates Adam,Phillips Lauren,Chao Katherine R.,England Eleina M.,Laricchia Kristen M.,Mullen Thomas,Valkanas Elise,Xu Liwen,Bertoli Marta,Blain Alison,Casasús Ana B.,Duff Jennifer,Mroczek Magdalena,Specht Sabine,Lek Monkol,Ensini Monica,MacArthur Daniel G.,Akay Ela,Alonso-Pérez Jorge,Baets Jonathan,Barisic Nina,Bastian Alexandra,Borell Sabine,Chamova Teodora,Claeys Kristl,Colomer Jaume,Coppens Sandra,Deconinck Nicolas,de Ridder Willem,Díaz-Manera Jordi,Domínguez-González Cristina,Duncan Alexis,Durmus Hacer,Fahmy Nagia A.,Farrugia Maria Elena,Fernández-Torrón Roberto,Gonzalez-Quereda Lidia,Haberlova Jana,von der Hagen Maja,Hahn Andreas,Jakovčević Antonia,Jerico Pascual Ivonne,Kapetanovic Solange,Kenina Viktorija,Kirschner Janbernd,Klein Andrea,Kölbel Heike,Kostera-Pruszczyk Anna,Kulshrestha Richa,Lähdetie Jaana,Layegh Mahsa,Longman Cheryl,López de Munain Adolfo,Loscher Wolfgang,Lusakowska Anna,Maddison Paul,Magot Armelle,Majumdar Anirban,Martí Pilar,Martínez Arroyo Amaia,Mazanec Radim,Mercier Sandra,Mongini Tiziana,Muelas Nuria,Nascimento Andrés,Nafissi Shahriar,Omidi Shirin,Ortez Carlos,Paquay Stéphanie,Pereon Yann,Perić Stojan,Ponzalino Valentina,Rakočević Stojanović Vidosava,Remiche Gauthier,Rodríguez Sainz Aida,Rudnik Sabine,Sanchez Albisua Iciar,Santos Manuela,Schara Ulrike,Shatillo Andriy,Sertić Jadranka,Stephani Ulrich,Strang-Karlsson Sonja,Sznajer Yves,Tanev Ani,Tournev Ivailo,Van den Bergh Peter,Van Parijs Vinciane,Vílchez Juan,Vill Katharina,Vissing John,Wallgren-Pettersson Carina,Wanschitz Julia,Willis Tracey,Witting Nanna,Zulaica Miren,Straub Volker

Publisher

Elsevier BV

Subject

Genetics (clinical)

Link

http://www.nature.com/articles/s41436-020-0840-3.pdf

Reference40 articles.

1. Undiagnosed genetic muscle disease in the north of England: an in depth phenotype analysis;Harris;PLoS Curr,2013

Cited by 58 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Novel OBSCN variants associated with a risk to exercise-intolerance and rhabdomyolysis;Neuromuscular Disorders;2024-01

2. Nuclear pore pathology underlying multisystem proteinopathy type 3‐related inclusion body myopathy;Annals of Clinical and Translational Neurology;2023-12-29

3. Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses;Journal of Neurology;2023-12-21

4. Retrospective clinical and genetic analysis of COL6-RD patients with a long-term follow-up at a single French center;Frontiers in Genetics;2023-12-13

5. Retrospective analysis of persistent HyperCKemia with or without muscle weakness in a case series from Greece highlights vast DMD variant heterogeneity;Expert Review of Molecular Diagnostics;2023-10-05