Impacts of massively parallel sequencing for genetic diagnosis of neuromuscular disorders-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Impacts of massively parallel sequencing for genetic diagnosis of neuromuscular disorders

Published:2012-12-07 Issue:2 Volume:125 Page:173-185
ISSN:0001-6322
Container-title:Acta Neuropathologica
language:en
Short-container-title:Acta Neuropathol

Author:

Vasli Nasim,Laporte Jocelyn

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Neurology (clinical),Pathology and Forensic Medicine

Link

http://link.springer.com/content/pdf/10.1007/s00401-012-1072-7.pdf

Reference97 articles.

1. Abbs S, Bobrow M (1992) Analysis of quantitative PCR for the diagnosis of deletion and duplication carriers in the dystrophin gene. J Med Genet 29(3):191–196

2. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR (2010) A method and server for predicting damaging missense mutations. Nat Methods 7(4):248–249. doi: 10.1038/nmeth0410-248

3. Alias L, Bernal S, Fuentes-Prior P, Barcelo MJ, Also E, Martinez-Hernandez R, Rodriguez-Alvarez FJ, Martin Y, Aller E, Grau E, Pecina A, Antinolo G, Galan E, Rosa AL, Fernandez-Burriel M, Borrego S, Millan JM, Hernandez-Chico C, Baiget M, Tizzano EF (2009) Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene. Hum Genet 125(1):29–39. doi: 10.1007/s00439-008-0598-1

4. Andersen PS, Havndrup O, Hougs L, Sorensen KM, Jensen M, Larsen LA, Hedley P, Thomsen AR, Moolman-Smook J, Christiansen M, Bundgaard H (2009) Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives. Hum Mutat 30(3):363–370. doi: 10.1002/humu.20862

5. Bartoli M, Negre P, Wein N, Bourgeois P, Pecheux C, Levy N, Krahn M (2012) Validation of comparative genomic hybridization arrays for the detection of genomic rearrangements of the calpain-3 and dysferlin genes. Clin Genet 81(1):99–101. doi: 10.1111/j.1399-0004.2011.01708.x

Cited by 37 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. Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes–phenotypes correlations;Genome Medicine;2024-07-09

2. The diversity of hereditary neuromuscular diseases: Experiences from molecular diagnosis;Journal of the Formosan Medical Association;2022-12

3. An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia;Muscle & Nerve;2021-11-08

4. An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases;Biomolecules;2021-11-04

5. Molecular diagnosis of muscular diseases in outpatient clinics;Neurology Genetics;2020-03-13

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号京ICP备18003416号-3