Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations-Reference-Cited by-同舟云学术

Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations

Published:2011-01-25 Issue:2 Volume:32 Page:152-167
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Scharner Juergen,Brown Charlotte A.,Bower Matthew,Iannaccone Susan T.,Khatri Ismail A.,Escolar Diana,Gordon Erynn,Felice Kevin,Crowe Carol A.,Grosmann Carla,Meriggioli Matthew N.,Asamoah Alexander,Gordon Ora,Gnocchi Viola F.,Ellis Juliet A.,Mendell Jerry R.,Zammit Peter S.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.21361/fullpdf

Reference98 articles.

1. Severe mandibuloacral dysplasia-associated lipodystrophy and progeria in a young girl with a novel homozygous Arg527Cys LMNA mutation;Agarwal;J Clin Endocrinol Metab,2008

2. Gene symbol: CMD1A. Disease: dilated cardiomyopathy associated with conduction system disease;Arbustini;Hum Genet,2005

3. Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb-MyoD pathways in muscle regeneration;Bakay;Brain,2006

4. Effects of expressing lamin A mutant protein causing Emery-Dreifuss muscular dystrophy and familial partial lipodystrophy in HeLa cells;Bechert;Exp Cell Res,2003

5. Multitissular involvement in a family with LMNA and EMD mutations: Role of digenic mechanism?;Ben Yaou;Neurology,2007

Cited by 64 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. Clinical and Genetic Heterogeneity of Nuclear Envelopathy Related Muscular Dystrophies in an Indian Cohort;Journal of Neuromuscular Diseases;2024-09-03

2. Two Moroccan Families with Emery-Dreifuss Muscular Dystrophy and Report of a Novel <i>LMNA</i> Pathogenic Variant;Molecular Syndromology;2024-06-10

3. A pan-SARS-CoV-2-specific soluble angiotensin-converting enzyme 2-albumin fusion engineered for enhanced plasma half-life and needle-free mucosal delivery;PNAS Nexus;2023-11-28

4. Fibril structures of TFG protein mutants validate the identification of TFG as a disease-related amyloid protein by the IMPAcT method;PNAS Nexus;2023-11-20

5. Caenorhabditis elegans models for striated muscle disorders caused by missense variants of human LMNA;PLOS Genetics;2023-08-25