Increasing Role of Titin Mutations in Neuromuscular Disorders [PDF]
, 2016 Peer ...
Hackman, Peter +4 more
core +2 more sources
Dysfunctional lamins as mediators of oxidative stress in Emery-Dreifuss muscular dystrophy
Folia Neuropathologica, 2017 Deficit of lamin A/C or emerin causes genetically transmitted Emery-Dreifuss muscular dystrophy (EDMD). As lamins are considered to be mediators of oxidative stress, the antioxidant/oxidant status was examined.
Irena Niebroj-Dobosz +4 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
Whole-genome sequencing and the clinician: a tale of two cities [PDF]
, 2014 Clinicians are faced with unprecedented opportunities to identify the genetic aetiologies of hitherto molecularly uncharacterised conditions via the use of high-throughput sequencing.
A. R. Foley +21 more
core +2 more sources
Distrofia muscular de Emery-Dreifuss: relato de caso Emery-Dreifuss muscular dystrophy: case report
Arquivos de Neuro-Psiquiatria, 2006 A distrofia muscular de Emery-Dreifuss é uma forma de distrofia muscular freqüentemente associada a contraturas articulares e defeitos de condução cardíaca, que pode ser causada pela deficiência da proteína emerina na membrana nuclear interna das fibras ...
Ana Lucila Moreira Carsten +3 more
doaj +1 more source
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
Cytokines in Emery-Dreifuss muscular dystrophy: Possible pathogenetic markers and targets for treatment of disease [PDF]
, 2015 La distrofia muscolare di Emery-Dreifuss (EDMD) è una miopatia degenerativa ereditaria caratterizzata da debolezza e atrofia dei muscoli senza coinvolgimento del sistema nervoso.
Prencipe, Sabino <1985>
core +1 more source
Familial Dilated Cardiomyopathy and Isolated Left Ventricular Noncompaction Associated With Lamin A/C Gene Mutations [PDF]
, 2004 [Abstract] LMNA mutations have been associated with familial or sporadic dilated cardiomyopathy (DC), with or without conduction system disease. We studied the LMNA gene in 67 consecutive patients with DC (18 had familial DC, 17 had possible familial DC,
Bouzas-Zubeldia, Beatriz +10 more
core +2 more sources
A novel SYNE1 gene mutation in a Chinese family of Emery-Dreifuss muscular dystrophy-like
BMC Medical Genetics, 2017 Background In the present study, a novel mutation in exon 46 at codon 2304 (G2304R) of the SYNE1 gene is described in a Chinese family (proband, mother, and sister) with Emery–Dreifuss muscular dystrophy-like, which clinically manifests as muscle ...
Zuzhi Chen +8 more
doaj +1 more source