Browsing by Author "XX676192"
Now showing items 1-20 of 25
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(WILEY-LISS, 2008)
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(Pergamon-Elsevier Science, 2016)
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(Pergamon-Elsevier, 2016)
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(Sociedad Chilena de Neurología, Psiquiatría y Neurocirugía, 2010-10)La distrofia miotónica de Steinert o tipo I (DM1, OMIM 160900), es una enfermedad multisistémica, autosómica dominante de penetrancia variable, causada por la expansión del triplete (CTG)n, en el gen que codifica para la ...
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(2009)Dynamin 2 (DNM2) is a large GTPase involved in the release of nascent vesicles during endocytosis and intracellular membrane trafficking. Distinct DNM2 mutations, affecting the middle domain (MD) and the Pleckstrin homology ...
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(Wiley-Liss, 2007-12)We report four heterozygous dynamin 2 (DNM2) mutations in five centronuclear myopathy patients aged 1 to 15 years. They all presented with neonatal hypotonia with weak suckling. Thereafter, their phenotype progressively ...
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(2014)Dynamin-2 is a pleiotropic GTPase whose best-known function is related to membrane scission during vesicle budding from the plasma or Golgi membranes. In the nervous system, dynamin-2 participates in synaptic vesicle ...
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(Nature Publishing Group, 2017)Dynamin-2 is a ubiquitously expressed GTP-ase that mediates membrane remodeling. Recent findings indicate that dynamin-2 also regulates actin dynamics. Mutations in dynamin-2 cause dominant centronuclear myopathy (CNM), a ...
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(International Society for Neurochemistry, 2014)Dynamin-2 is a pleiotropic GTPase whose best-known function is related to membrane scission during vesicle budding from the plasma or Golgi membranes. In the nervous system, dynamin-2 participates in synaptic vesicle ...
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(2016)Mutations in the dysferlin gene are linked to a group of muscular dystrophies known as dysferlinopathies. These myopathies are characterized by progressive atrophy. Studies in muscle tissue from dysferlinopathy patients ...
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(Elsevier, 2017)
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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 ...
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(Medical Journals/Acta D-V, 2017)
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Muscle magnetic resonance imaging and histopathology in ACTA1-related congenital nemaline myopathy (John Wiley and Sons Inc., 2014)© 2014 Wiley Periodicals, Inc.Introduction: Muscle biopsy is usually diagnostic in nemaline myopathy (NM), but some patients may show nonspecific findings, leading to pitfalls in diagnosis. Muscle MRI is a helpful complementary ...
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(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 ...
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(Springer-Verlag, 2008-12-16)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 ...
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(British Neuropathological Society, 2011)Aims: To report the clinical, pathological and genetic findings in a group of patients with a previously not described phenotype of congenital myopathy due to recessive mutations in the gene encoding the type 1 muscle ...
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(Springer Verlag, 2009)
