Results 21 to 30 of about 2,696 (156)

A Matlab Toolbox for Extended Dynamic Mode Decomposition Based on Orthogonal Polynomials and p-q Quasi-Norm Order Reduction

Mathematics, 2022
Extended Dynamic Mode Decomposition (EDMD) allows an approximation of the Koopman operator to be derived in the form of a truncated (finite dimensional) linear operator in a lifted space of (nonlinear) observable functions.
Camilo Garcia-Tenorio, Alain Vande Wouwer   +1 more
doaj   +1 more source

Perioperative Anaesthetic Management in Emery-dreifuss Muscular Dystrophy: A Narrative Review [PDF]

Journal of Clinical and Diagnostic Research
Emery-Dreifuss Muscular Dystrophy (EDMD) is a very rare but also clinically important laminopathy that is accompanied by early contractures, weakness of the humeroperoneal muscles and progressive cardiac involvement such as conduction abnormalities ...
Abhigna Gummalla, Vivek Chakole, Bhagyesh Sapkale   +2 more
doaj   +1 more source

Muscular dystrophy-associated SUN1 and SUN2 variants disrupt nuclear-cytoskeletal connections and myonuclear organization. [PDF]

PLoS Genetics, 2014
Proteins of the nuclear envelope (NE) are associated with a range of inherited disorders, most commonly involving muscular dystrophy and cardiomyopathy, as exemplified by Emery-Dreifuss muscular dystrophy (EDMD).
Peter Meinke, Elisabetta Mattioli, Farhana Haque, Susumu Antoku, Marta Columbaro, Kees R Straatman, Howard J Worman, Gregg G Gundersen, Giovanna Lattanzi, Manfred Wehnert, Sue Shackleton   +10 more
doaj   +1 more source

Case Reports: Emery-Dreifuss Muscular Dystrophy Presenting as a Heart Rhythm Disorders in Children

Frontiers in Cardiovascular Medicine, 2021
Emery-Dreifuss muscular dystrophy (EDMD) is inherited muscle dystrophy often accompanied by cardiac abnormalities in the form of supraventricular arrhythmias, conduction defects and sinus node dysfunction.
Tatiana Kovalchuk, Elena Yakovleva, Svetlana Fetisova, Tatiana Vershinina, Viktoriya Lebedeva, Tamara Lyubimtseva, Dmitriy Lebedev, Lubov Mitrofanova, Anton Ryzhkov, Polina Sokolnikova, Yuliya Fomicheva, Alexandra Kozyreva, Sergey Zhuk, Natalia Smolina, Anna Zlotina, Tatiana Pervunina, Anna Kostareva, Anna Kostareva, Elena Vasichkina   +18 more
doaj   +1 more source

Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy

Folia Neuropathologica, 2016
Emery-Dreifuss muscular dystrophy (EDMD), a rare inherited disease, is characterized clinically by humero-peroneal muscle atrophy and weakness, multijoint contractures, spine rigidity and cardiac insufficiency with conduction defects.
Agnieszka Madej-Pilarczyk, Andrzej Kochański   +1 more
doaj   +1 more source

Professional activity of Emery-Dreifuss muscular dystrophy patients in Poland

International Journal of Occupational Medicine and Environmental Health, 2014
Objectives: Emery-Dreifuss muscular dystrophy (EDMD) is a very rare genetic disorder affecting skeletal and heart muscles. The aim of this study was to identify factors which might influence the ability to work in EDMD patients in Poland.
Agnieszka Madej-Pilarczyk
doaj   +1 more source

Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report

BMC Pediatrics, 2022
Background Emery-Dreifuss Muscular Dystrophy (EDMD) is an uncommon genetic disease among the group of muscular dystrophies. EDMD is clinically heterogeneous and resembles other muscular dystrophies.
Kristy Iskandar, Sunartini, Farida Niken Astari, Rizki Amalia Gumilang, Nissya Ilma, Ni Putu Shartyanie, Guritno Adistyawan, Grace Tan, Gunadi, Poh San Lai   +9 more
doaj   +1 more source

Impaired mechanical response of an EDMD mutation leads to motility phenotypes that are repaired by loss of prenylation [PDF]

, 2016
There are roughly 14 distinct heritable autosomal dominant diseases associated with mutations in lamins A/C, including Emery-Dreifuss muscular dystrophy (EDMD).
Zuela, Noam, Zwerger, Monika, Medalia, Ohad, Gruenbaum, Yosef, Levin, Tal   +4 more
core   +1 more source

Role of Cdkn2a in the Emery–Dreifuss Muscular Dystrophy Cardiac Phenotype

Biomolecules, 2021
The Cdkn2a locus is one of the most studied tumor suppressor loci in the context of several cancer types. However, in the last years, its expression has also been linked to terminal differentiation and the activation of the senescence program in ...
Gloria Pegoli, Marika Milan, Pierluigi Giuseppe Manti, Andrea Bianchi, Federica Lucini, Philina Santarelli, Claudia Bearzi, Roberto Rizzi, Chiara Lanzuolo   +8 more
doaj   +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