Results 71 to 80 of about 283,904 (179)

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
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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

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

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

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

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

Perinatal Management of Pregnancy Complicated by Autosomal Dominant Emery–Dreifuss Muscular Dystrophy

American Journal of Perinatology Reports, 2016
Introduction Autosomal dominant Emery–Dreifuss muscular dystrophy (AD-EDMD) is rare compared with other forms of muscular dystrophy and is characterized by cardiac conduction defects.
Megumi Sato, Hiromitsu Shirasawa, Kenichi Makino, Hiroshi Miura, Wataru Sato, Dai Shimizu, Naoki Sato, Jin Kumagai, Akira Sato, Yukihiro Terada   +9 more
doaj   +1 more source

Report of 3 Cases of Emery-Dreifuss Muscular Dystrophy in a Family

پزشکی بالینی ابن سینا, 2004
Emery-Dreifuss muscular dystrophy (EDMD)can be seen in the middle childhood and the genetic patterns of them are X-linked recessive, autosomal dominant or recessive.
Parviz Yazdanpanah, Abdolrasool Javan, Behdad Nadimi, Mehrdad Rezaei, Behrouz Yazdanpanah, Hamdollah Delaviz   +5 more
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