Glasgow Contributions to the Human Gene Mapping Project, 1959-1987 [PDF]
, 2015 No abstract ...
Ferguson-Smith, Malcolm
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Elevated TGF \u3b22 serum levels in Emery-Dreifuss Muscular Dystrophy: Implications for myocyte and tenocyte differentiation and fibrogenic processes [PDF]
, 2018 Among rare diseases caused by mutations in LMNA gene, Emery-Dreifuss Muscular Dystrophy type 2 and Limb-Girdle muscular Dystrophy 1B are characterized by muscle weakness and wasting, joint contractures, cardiomyopathy with conduction system disorders ...
Bernasconi, Pia +25 more
core +6 more sources
Risk stratification in laminopathies and Emery Dreifuss muscular dystrophy
Neurology International, 2018 Laminopathies are genetic disorders due to gene mutation encoding for proteins of the nuclear envelope. Patients are at risk of conduction defect, arrhythmia, sudden death and heart failure.
Abdallah Fayssoil
doaj +1 more source
Mouse models for understanding the molecular mechanism of bone disease in Hutchinson-Gilford progeria syndrome [PDF]
, 2011 Aging is a complex process affecting all people. Intense research is applied to elucidate the biological basis of aging and disease that develop with aging.
Schmidt, Eva
core +1 more source
LMNA-Cardiomyopathy in Emery-Dreifuss Muscular Dystrophy
Архивъ внутренней медициныEmery-Dreifuss muscular dystrophy is a rare disease resulting from a genetic defect in nuclear envelope proteins, most commonly in emerin and lamin A/C.
E. V. Resnik +5 more
doaj +1 more source
Early stages of building a rare disease registry, methods and 2010 data from the Belgian Neuromuscular Disease Registry (BNMDR) [PDF]
, 2015 The Belgian Neuromuscular Disease Registry, commissioned in 2008, aims to collect data to improve knowledge on neuromuscular diseases and enhance quality health services for neuromuscular disease patients.
BNMDR Scientific Committee, the +7 more
core +2 more sources
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 +5 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 +6 more
doaj +1 more source
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 +12 more
wiley +1 more source
Myopathic lamin mutations impair nuclear stability in cells and tissue and disrupt nucleo-cytoskeletal coupling [PDF]
, 2017 Lamins are intermediate filament proteins that assemble into a meshwork underneath the inner nuclear membrane, the nuclear lamina. Mutations in the LMNA gene, encoding lamins A and C, cause a variety of diseases collectively called laminopathies.
Dialynas, George +8 more
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