Results 61 to 70 of about 4,511 (155)

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

Novel LMNA Mutation in a Taiwanese Family with Autosomal Dominant Emery-Dreifuss Muscular Dystrophy

Journal of the Formosan Medical Association, 2007
Emery-Dreifuss muscular dystrophy (EDMD) is characterized by early-onset contractures, slowly progressive weakness, and muscle wasting in humeroperoneal muscles, and adult-onset cardiomyopathy with conduction block. We analyzed blood samples from an EDMD
Wen-Chen Liang, Chung-Yee Yuo, Chun-Ya Liu, Chee-Siong Lee, Kanako Goto, Yukiko K. Hayashi, Yuh-Jyh Jong   +6 more
doaj   +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  

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

Novel Mutations in Titin Exon 363 With Different Phenotypes Including a Founder Mutation in Eastern Europe

European Journal of Neurology, Volume 32, Issue 11, November 2025.
In six patients from five families, we identified two novel exon 363 pathogenic variants causing recessive titinopathies. Patients with a recurrent Eastern European founder variant presented with juvenile distal titinopathy, while a Belgian family showed an early‐onset titinopathy with contractures.
Veronica Sian, Maria Francesca Di Feo, Sergei Kurbatov, Anna Vihola, Helena Luque, Fedor Konovalov, Stojan Peric, Cathrina Duffy, Cornelia Kornblum, Kristl G. Claeys, Peter Hackman, Bjarne Udd, Marco Savarese   +12 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

cTAGE5/MEA6 Regulates LBR Localization to Maintain Nuclear Envelope Integrity and Safeguard Against Aging

Aging Cell, Volume 24, Issue 10, October 2025.
cTAGE5 regulates LBR trafficking between the ER and the nucleus membrane to maintain the integrity of both the ER and the nuclear envelope. cTAGE5 KO results in LBR retention in the ER, reduced stability, and subsequent disruption of nuclear envelope integrity. ABSTRACT cTAGE5/MEA6 plays a pivotal role in COPII complex assembly, ER‐to‐Golgi trafficking,
Yaqing Wang, Pengyu Sun, Fuqiang Yang, Tiantian Ma, Junwan Fan, Lei Shi, Nan Li, Fei Gao, Kangmin He, Zhiheng Xu   +9 more
wiley   +1 more source

Emery-Dreifuss Muscular Dystrophy

Clinical characteristics Emery-Dreifuss muscular dystrophy (EDMD) is characterized by the clinical triad of: joint contractures that begin in early childhood; slowly progressive muscle weakness and wasting initially in a humero-peroneal distribution that later extends to the scapular and pelvic girdle muscles; and cardiac involvement that may manifest ...
Bonne, Gisèle, Leturcq, France, Yaou, Rabah   +2 more
openaire   +2 more sources