Results 51 to 60 of about 2,696 (156)
Putative disease-causing variants in SUN1 and SUN2 in patients with EDMD-like phenotypes.
Putative disease-causing variants in SUN1 and SUN2 in patients with EDMD-like phenotypes.
Farhana Haque (484805) +10 more
core +1 more source
Background: Laminopathies are caused by rare alterations in LMNA, leading to a wide clinical spectrum. Though muscular dystrophy begins at early ages, disease progression is different in each patient. We investigated variability in laminopathy phenotypes
Sergi Cesar +68 more
doaj +1 more source
Convergence properties of dynamic mode decomposition for analytic interval maps
Abstract Extended dynamic mode decomposition (EDMD) is a data‐driven algorithm for approximating spectral data of the Koopman operator associated to a dynamical system, combining a Galerkin method with N$N$ functions and a quadrature method with M$M$ quadrature nodes.
Elliz Akindji +3 more
wiley +1 more source
A-type lamins gene (LMNA) mutations cause an autosomal dominant inherited form of Emery-Dreifuss muscular dystrophy (EDMD). EDMD is characterized by slowly progressive muscle weakness and wasting and dilated cardiomyopathy, often leading to heart failure-
Nicolas Vignier +3 more
doaj +1 more source
Tissue inhibitors of matrix metalloproteinases in serum are cardiac biomarkers in Emery-Dreifuss muscular dystrophy [PDF]
Wstęp: Tkankowe inhibitory metaloproteinaz macierzy (TIMPs) są zaangażowane w patogenezę chorób układu sercowo-naczyniowego. Dotychczas nie badano stężenia TIMPs u pacjentów z kardiomiopatią rozstrzeniową w przebiegu dystrofii mięśniowej Emery’ego ...
Marchel, Michał; 1st Department of Cardiology, Warsaw Medical University, Warsaw, Poland +4 more
core +1 more source
LMNA encodes both lamin A and C: major components of the nuclear lamina. Mutations in LMNA underlie a range of tissue-specific degenerative diseases, including those that affect skeletal muscle, such as autosomal-Emery-Dreifuss muscular dystrophy (A-EDMD)
Viola F Gnocchi +9 more
doaj +1 more source
Abstract The Appalachian‐Caledonian orogen was built during the Paleozoic by accretion of peri‐Gondwanan terranes onto Laurentia, culminating in the formation of Pangea. During the Mesozoic, Pangea broke apart, displacing one section of the belt to eastern North America and another to northwestern Europe.
Roberto Masis +4 more
wiley +1 more source
EDMD for expanding circle maps and their complex perturbations
We show that spectral data of the Koopman operator arising from an analytic expanding circle map $\tau$ can be effectively calculated using an EDMD-type algorithm combining a collocation method of order m with a Galerkin method of order n.
Bandtlow, Oscar F. +2 more
core
Mutations in the gene encoding emerin cause Emery–Dreifuss muscular dystrophy (EDMD). Emerin is an integral inner nuclear membrane protein and a component of the nuclear lamina. EDMD is characterized by skeletal muscle wasting, cardiac conduction defects
Carol M. Collins +2 more
doaj +1 more source
Phenotype-Genotype Analysis of Chinese Patients with Early-Onset LMNA-Related Muscular Dystrophy. [PDF]
This study aimed to analyze the correlation between the phenotype and genotype of Chinese patients with early-onset lamin A (LMNA)-related muscular dystrophy (MD).
Dandan Tan +8 more
doaj +1 more source

