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Chloroquine neuromyopathy
(Dustri-verlag Dr Karl FeistleMunchen-deisenhofenAlemanha, 1996)
Insights from genotype–phenotype correlations by novel SPEG mutations causing centronuclear myopathy
(Elsevier Ltd, 2017)
© 2017 Elsevier B.V. Centronuclear myopathies (CNM) are a clinically and genetically heterogeneous group of congenital myopathies, defined histologically by increased number of fibres with centrally located nuclei, and ...
Insights from genotype-phenotype correlations by novel SPEG mutations causing centronuclear myopathy
(Elsevier, 2017)
Centronuclear myopathies (CNM) are a clinically and genetically heterogeneous group of congenital myopathies, defined histologically by increased number of fibres with centrally located nuclei, and type I fibre predominance ...
Nebulin expression in patients with nemaline myopathy
(Elsevier B.V., 2001-03-01)
Nemaline myopathy is a structural congenital myopathy which may show both autosomal dominant and autosomal recessive inheritance patterns. Mutations in three different genes have been identified as the cause of nemaline ...
Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies
(2019)
Several morphological phenotypes have been associated to RYR1-recessive myopathies. We recharacterized the RYR1-recessive morphological spectrum by a large monocentric study performed on 54 muscle biopsies from a large ...
'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies
(NLM (Medline), 2019)
Several morphological phenotypes have been associated to RYR1-recessive myopathies. We recharacterized the RYR1-recessive morphological spectrum by a large monocentric study performed on 54 muscle biopsies from a large ...
"Necklace" fibers, a new histological marker of late-onset MTM1- related centronuclear myopathy
(Springer Verlag, 2009)
Mutations in the gene encoding the phosphoinositide phosphatase myotubularin 1 protein (MTM1) are usually associated with severe neonatal X-linked myotubular myopathy (XLMTM). However, mutations in MTM1 have also been ...
Evaluation of inflammatory biomarkers associated with oxidative stress and histological assessment of magnetic therapy on experimental myopathy in rats
(Informa Healthcare, 2012-12-19)
The effect of pulsed electromagnetic field (PEMF) therapy, also called magnetic therapy, upon inflammatory biomarkers associated with oxidative stress plasma fibrinogen, nitric oxide (NO), L-citrulline, carbonyl groups, ...
Progressive myopathy with a combined respiratory chain defect including Complex II
(Elsevier B.V., 2008-01-15)
Biochemical defects in the respiratory chain are mostly associated with deficiencies in Complexes I, III and IV, caused by nuclear or mitochondrial DNA mutations. Combined defects including Complex II have been reported ...