Results 71 to 80 of about 283,904 (171)

Chronological and Spatial Distribution of Skeletal Muscle Fat Replacement in FHL1‐Related Myopathies

Annals of Clinical and Translational Neurology, Volume 13, Issue 4, Page 724-735, April 2026.
ABSTRACT Objectives Variants in the FHL1 gene cause FHL1‐related myopathies (FHL1‐RMs), a group of neuromuscular disorders with diverse clinical presentations. This study aimed to comprehensively characterize the spatial and temporal patterns of skeletal muscle fat replacement throughout the whole body in FHL1‐RMs, to examine disease progression over ...
Rui Shimazaki, Satoru Noguchi, Hotake Takizawa, Yasushi Oya, Yuji Takahashi, Hirofumi Komaki, Hajime Arahata, Shinichiro Hayashi, Ichizo Nishino   +8 more
wiley   +1 more source

Implementing a Tiered Genetic Testing Strategy for Muscular Dystrophies in Morocco: From Targeted Assays to Exome Sequencing

Molecular Genetics &Genomic Medicine, Volume 14, Issue 3, March 2026.
Targeted routine testing combined with NGS approaches enabled effective genetic diagnosis of muscular dystrophies in Moroccan patients, with nearly half of cases resolved by first‐line testing and additional diagnoses obtained through targeted sequencing and whole‐exome sequencing.
Yasmina Rahmuni, Ilham Ratbi, Jaber Lyahyai, Imane Cherkaoui Jaouad, Ourayna Batta, Aziza Sbiti, Maryem Sahli, Omar Askander, Zineb Rchiad, Abdelaziz Sefiani   +9 more
wiley   +1 more source

Immunocytochemistry of nuclear domains and Emery-Dreifuss muscular dystrophy pathophysiology

European Journal of Histochemistry, 2009
The present review summarizes recent cytochemical findings on the functional organization of the nuclear domains, with a particular emphasis on the relation between nuclear envelope- associated proteins and chromatin.
NM Maraldi, G Lattanzi, P Sabatelli, A Ognibene, M Columbaro, C Capanni, C Rutigliano, E Mattioli, S Squarzoni   +8 more
doaj   +1 more source

A Novel Mutation Of The EMD Gene In A Family With Cardiac Conduction Abnormalities And A High Incidence Of Sudden Cardiac Death

Pharmacogenomics and Personalized Medicine, 2019
Demiao Kong,1,2,* Yi Zhan,3,* Canzhao Liu,4 Yerong Hu,1 Yangzhao Zhou,1,4 Jiawen Luo,1 Lu Gu,1 Xinmin Zhou,1 Zhiwei Zhang1,4 1Department of Cardiovascular Surgery, The Second Xiangya Hospital, Central South University, Changsha, Hunan 410011, China ...
Kong D, Zhan Y, Liu C, Hu Y, Zhou Y, Luo J, Gu L, Zhou X, Zhang Z   +8 more
doaj  

Successful Heart Transplantation in a Woman With LMNA‐Related Emery–Dreifuss Muscular Dystrophy: A Case Report and Literature Review

Case Reports in Transplantation, Volume 2026, Issue 1, 2026.
Introduction Emery–Dreifuss muscular dystrophy (EDMD) is a rare inherited neuromuscular disorder frequently associated with progressive cardiac involvement, particularly in patients carrying LMNA mutations. End‐stage heart failure may develop despite optimal medical and device therapy, although heart transplantation remains an uncommon therapeutic ...
Giuseppe Fischetti, Lorenzo Giovannico, Massimiliano Carrozzini, Domenico Parigino, Luca Savino, Federica Mazzone, Nicola Di Bari, Massimo Padalino, Tomaso Bottio, Richa Sharma   +9 more
wiley   +1 more source

Emerin increase in regenerating muscle fibers

European Journal of Histochemistry, 2009
The fate of emerin during skeletal muscle regeneration was investigated in an animal model by means of crush injury. Immunofluorescence, immunoblotting and mRNA analysis demonstrated that emerin level is increased in regenerating rat muscle fibers with ...
S Squarzoni, P Sabatelli, C Capanni, G Lattanzi, C Rutigliano, M Columbaro   +5 more
doaj   +1 more source

Computational Characterization of Pathogenic LMNA Missense Variants: Structural Instability, Altered Binding, and Conformational Dynamics

Human Mutation, Volume 2026, Issue 1, 2026.
Background Mutations in the LMNA gene underlie a broad spectrum of laminopathies, including muscular dystrophies, cardiomyopathies, and premature aging syndromes; however, the molecular mechanisms by which missense variants disrupt Lamin A structural integrity remain incompletely characterized.
Emre Aktaş, Ceren Nizamoğlu, Salvador Ventura, Feng Gu   +3 more
wiley   +1 more source

Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern

, 2010
Bethlem myopathy and Ullrich congenital muscular dystrophy are part of the heterogeneous group of collagen VI-related muscle disorders. They are caused by mutations in collagen VI (ColVI) genes (COL6A1, COL6A2, and COL6A3) while LMNA mutations cause ...
Payan, Christine Anne Mary C., Briñas, Laura, Deconinck, Nicolas, Stojkovic, Tanya, A. Ferreiro, E. Dion, Dion, Elisabeth, N. Deconinck, Guicheney, Pascale, Eymard, Bruno, Bonne, Gisèle, T. Stojkovic, Yaou, Rabah Ben, Richard, Pascale, C. Payan, L. Briñas, R. Ben Yaou, P. Richard, Voit, Thomas, V. Allamand, P. Guicheney, B. Eymard, T. Voit, G. Bonne, Ferreiro, Ana, Allamand, Valérie   +25 more
core   +1 more source

Mechanical Stress Triggers Premature Senescence in Cardiac Fibroblasts

Advanced Science, Volume 12, Issue 47, December 18, 2025.
Cellular senescence contributes to disease burden in cardiovascular disease (CVD) and aging, highlighting the need to understand its induction. In primary cardiac fibroblasts, reduced strain and increased frequency, mimicking CVD, elicit a distinct senescent phenotype compared to oxidative stress.
Stephanie E. Schneider, Adrienne K. Scott, Katie M. Gallagher, Emily Y. Miller, Soham Ghosh, Corey P. Neu   +5 more
wiley   +1 more source

Theoretical basis for a new approach of studying Emery-Dreifuss muscular dystrophy by means of thermography [PDF]

, 2018
Introduction: Emery-Dreifuss muscular dystrophy (EDMD) is a clinical condition characterized by neuro-skeletal and cardiac impairments. By means of thermography, an image acquisition technique that allows the recording of the heat emitted by objects or ...
Martinez-Almagro Andreo A., Carboni N., Casu G., Cabizosu A., Vegara-Meseguer J. M., Gea Carrasco G., Marziliano N.   +6 more
core   +2 more sources