Domiciliary nasal respiratory support : first experiences in Malta [PDF]
, 1997 Nasal respiratory support is a non-invasive alternative to conventional assisted ventilation with endotracheal intubation, or the more cumbersome negative pressure ventilators.
Camilleri, R. +2 more
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Aging of Hutchinson-Gilford progeria syndrome fibroblasts is characterised by hyperproliferation and increased apoptosis [PDF]
, 2004 Hutchinson-Gilford progeria syndrome is a rare genetic disorder that mimics certain aspects of aging prematurely. Recent work has revealed that mutations in the lamin A gene are a cause of the disease.
Bridger, JM, Kill, IR
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A rare case of myasthenia gravis with coexisting muscular dystrophy [PDF]
, 2014 Myasthenia gravis (MG) is an autoimmune disease in which antibodies are directed against postsynaptic membrane of neuromuscular junction, resulting in muscle weakness and fatigability.
Aftab, Sommayya +2 more
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Life-long course and molecular characterization of the original Dutch family with epidermolysis bullosa simplex with muscular dystrophy due to a homozygous novel plectin point mutation [PDF]
, 2004 Plectin is one of the largest and most versatile cytolinker proteins known. Cloned and sequenced in 1991, it was later shown to have nonsense mutations in recessive epidermolysis bullosa with muscular dystrophy.
De Groot, WP +7 more
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Research Results in PharmacologyIntroduction: Gene therapy for Myoshi myopathy is extremely relevant, as it may become the first pathogenetic treatment for dysferlinopathy. The aim of this study was to study the efficacy and safety of the use of a genetic construct, the AAV9-DYSF-DV3 ...
Elеna V. Kuzubova +8 more
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Limb girdle muscular dystrophies
Česká a slovenská neurologie a neurochirurgie, 2022 Lívie Mensová +3 more
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The impact of molecular biology on clinical neurology. [PDF]
, 2001 Advances in molecular biology have increased our understanding of both inherited and sporadic forms of neurological disease. In this review, the impact of these advances is discussed in relation to specific neurological conditions.
Ho, SL, Mak, W
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Clinical and genetic evaluation of hereditary myopathies in an adult Saudi cohort
BMC NeurologyBackground Diagnosis of hereditary myopathy is often challenging owing to overlapping clinical phenotypes and muscle histopathological findings. This retrospective study aimed to identify the phenotypic and genotypic spectra of hereditary myopathies at a
Reem M. Alhammad +4 more
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The Journal of Clinical InvestigationThe dystrophin-glycoprotein complex (DGC) is composed of peripheral and integral membrane proteins at the muscle cell membrane that link the extracellular matrix with the intracellular cytoskeleton.
Ekaterina I. Mokhonova +14 more
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Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P [PDF]
, 2017 In 1965, an adult-onset, autosomal dominant disorder with a peculiar scapuloperoneal distribution of weakness and atrophy was described in a large, multi-generation kindred and named ‘scapuloperoneal syndrome type Kaeser' (OMIM #181400).
Born, C. +13 more
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