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X-Linked Emery-Dreifuss Muscular Dystrophy

Known as: SCAPULOPERONEAL MUSCULAR DYSTROPHY, Emery Dreifuss Muscular Dystrophy, X Linked, Emery-Dreifuss Muscular Dystrophy, X-Linked 
National Institutes of Health

Related topics

Related topics

9 relations
Atrial arrhythmiaAtrioventricular BlockAutosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)Conduction disorder of the heart
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Broader (1)

Muscular Dystrophy, Emery-Dreifuss

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2016
Review
2016
TRPV4: Molecular Conductor of a Diverse Orchestra.
Transient receptor potential vanilloid type 4 (TRPV4) is a calcium-permeable nonselective cation channel, originally described in… Expand
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Highly Cited
2010
Highly Cited
2010
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C
Spinal muscular atrophies (SMA, also known as hereditary motor neuropathies) and hereditary motor and sensory neuropathies (HMSN… Expand
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Highly Cited
2008
Highly Cited
2008
Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia
Inclusion body myopathy with Paget disease of the bone (PDB) and/or frontotemporal dementia (IBMPFD, OMIM 167320), is a… Expand
Highly Cited
2005
Highly Cited
2005
Occurrence of some organic UV filters in wastewater, in surface waters, and in fish from Swiss Lakes.
Organic UV filters are used in personal care products such as sunscreen products, and in cosmetics, beauty creams, skin lotions… Expand
Highly Cited
2003
Highly Cited
2003
Temperature-dependent uptake rates of nonpolar organic compounds by semipermeable membrane devices and low-density polyethylene membranes.
The effect of temperature on sampling rates and sampler-water partition coefficients of semipermeable membrane devices (SPMDs… Expand
Highly Cited
2002
Highly Cited
2002
Development of the permeability/performance reference compound approach for in situ calibration of semipermeable membrane devices.
Permeability/performance reference compounds (PRCs) are analytically noninterfering organic compounds with moderate to high… Expand
Highly Cited
2002
Highly Cited
2002
Calibrating the uptake kinetics of semipermeable membrane devices in water: impact of hydrodynamics.
The use of lipid-containing semipermeable membrane devices (SPMDs) is becoming commonplace, but the potential effects of… Expand
Highly Cited
2002
Highly Cited
2002
Calibration and field verification of semipermeable membrane devices for measuring polycyclic aromatic hydrocarbons in water.
The use of semipermeable membrane devices (SPMDs) has become common in environmental sampling of nonpolar organic contaminants… Expand
Highly Cited
2001
Highly Cited
2001
Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy.
Autosomal dominant Emery-Dreifuss muscular dystrophy is caused by mutations in the LMNA gene, which encodes lamin A and lamin C… Expand
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Highly Cited
1995
Highly Cited
1995
Use of the Semipermeable Membrane Device as an in Situ Sampler of Waterborne Bioavailable PCDD and PCDF Residues at Sub-Parts-per-Quadrillion Concentrations.
Semipermeable membrane devices (SPMDs) were used to passively sample aqueous polychlorinated dibenzo-p-dioxins (PCDDs) and… Expand
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