Results 21 to 30 of about 285,170 (145)
Stem Cell Research, 2020 Mutations in LMNA gene are known to cause a broad range of diseases called laminopathies. We have generated two induced pluripotent stem cell lines FAMRCi006-A and FAMRCi006-B from a patient carrying LMNA p.
Kseniya Perepelina +9 more
doaj +1 more source
The Turkish Journal of Pediatrics, 2020 Dropped head syndrome can be seen in many neuromuscular diseases. However, there are very few diseases in which neck extensors are weak among neuromuscular diseases.
Hande Tekin +4 more
doaj +1 more source
Dilated cardiomyopathy with severe arrhythmias in Emery-Dreifuss muscular dystrophy [PDF]
Cardiology Journal, 2020 Andrzej Kułach +5 more
doaj +2 more sources
Stem Cell Research, 2021 LAMIN A/C, encoded by the LMNA gene, supports the normal structure of the cell nucleus and regulates the connection between the nucleus and the cytoskeleton as a component of the nucleus envelope.
Ji-Zhen Lu +12 more
doaj +1 more source
Novel FHL1 Mutation Associated With Hypertrophic Cardiomyopathy, Sudden Cardiac Death, and Myopathy
JACC: Case Reports, 2020 A 24-year-old man with muscle cramps and a family history of sudden death presented with palpitations. Electrocardiography showed signs of left ventricular hypertrophy and nonsustained ventricular tachycardia, and imaging studies confirmed hypertrophic ...
M. Scott Binder, MD +5 more
doaj +1 more source
Systemic Botulism Toxicity Caused by Pyloric Botox Injection to Treat Gastroparesis
Case Reports in Gastroenterology, 2020 Systemic botulism resulting from therapeutic Botox (OnabotulinumtoxinA) injection has been rarely reported, and never in the context of pylorus injection to treat gastroparesis.
Gordon P. Bensen +2 more
doaj +1 more source
Proteomic profiling of Duchenne muscular dystrophy : protein patterns and candidate markers of disease [PDF]
, 2011 Duchenne muscular dystrophy (DMD) caused by mutations in the dystrophin gene is a severe chronic muscle-wasting disease leading to early loss of ambulation in patients and to death by the third decade.
Escher, Claudia Andrea
core +1 more source
An Omics View of Emery-Dreifuss Muscular Dystrophy. [PDF]
J Pers Med, 2020 International audienceRecent progress in Omics technologies has started to empower personalized healthcare development at a thorough biomolecular level. Omics have subsidized medical breakthroughs that have started to enter clinical proceedings.
Vignier N, Vignier N, Muchir A.
europepmc +2 more sources
PCAF Involvement in Lamin A/C-HDAC2 Interplay during the Early Phase of Muscle Differentiation
Cells, 2020 Lamin A/C has been implicated in the epigenetic regulation of muscle gene expression through dynamic interaction with chromatin domains and epigenetic enzymes. We previously showed that lamin A/C interacts with histone deacetylase 2 (HDAC2).
Spartaco Santi +4 more
doaj +1 more source
Frontiers in Genetics, 2023 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