Characterization of novel CAPN3 isoforms in white blood cells: an alternative approach for limb-girdle muscular dystrophy 2A diagnosis-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Characterization of novel CAPN3 isoforms in white blood cells: an alternative approach for limb-girdle muscular dystrophy 2A diagnosis

Published:2008-07 Issue:3 Volume:9 Page:173-182
ISSN:1364-6745
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Blázquez L.,Azpitarte M.,Sáenz A.,Goicoechea M.,Otaegui D.,Ferrer X.,Illa I.,Gutierrez-Rivas E.,Vilchez J. J.,López de Munain A.

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10048-008-0129-1.pdf

Reference31 articles.

1. de Paula F, Vainzof M, Passos-Bueno MR, de Cassia M Pavanello R, Matioli SR, VB Anderson L, Nigro V, Zatz M (2002) Clinical variability in calpainopathy: what makes the difference? Eur J Hum Genet 10:825–832

2. Richard I, Broux O, Allamand V, Fougerousse F, Chiannilkulchai N, Bourg N, Brenguier L, Devaud C, Pasturaud P, Roudaut C et al (1995) Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. Cell 81:27–40

3. Hayashi K (1992) PCR-SSCP: a method for detection of mutations. Genet Anal Tech Appl 9:73–79

4. Krahn M, Bernard R, Pecheux C, Hammouda el H, Eymard B, Lopez de Munain A, Cobo AM, Romero N, Urtizberea A, Leturcq F, Levy N, The Calpain Study Group of the French LGMD Network (2006) Screening of the CAPN3 gene in patients with possible LGMD2A. Clin Genet 69:444–449

5. Saenz A, Leturcq F, Cobo AM, Poza JJ, Ferrer X, Otaegui D, Camano P, Urtasun M, Vilchez J, Gutierrez-Rivas E, Emparanza J, Merlini L, Paisan C, Goicoechea M, Blazquez L, Eymard B, Lochmuller H, Walter M, Bonnemann C, Figarella-Branger D, Kaplan JC, Urtizberea JA, Marti-Masso JF, Lopez de Munain A (2005) LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene. Brain 128:732–742

Cited by 33 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. Proteomic studies in VWA1‐related neuromyopathy allowed new pathophysiological insights and the definition of blood biomarkers;Journal of Cellular and Molecular Medicine;2024-04

2. Novel Biomarkers for Limb Girdle Muscular Dystrophy (LGMD);Cells;2024-02-10

3. The CAPN3 p.Lys 254del variant is not always associated with dominant CAPN3‐related muscular dystrophy;Muscle & Nerve;2024-02

4. Altered expression of proteins involved in metabolism in LGMDR1 muscle is lost in cell culture conditions;Orphanet Journal of Rare Diseases;2023-10-10

5. The in-frame p.Lys254del-CAPN3 deletion is not sufficient to cause late-onset camptocormia in dominantly inherited calpainopathy;2023-07-23

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