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Now showing items 1-10 of 18
Keloids, spontaneous or after minor skin injury: Importance of not missing Bethlem myopathy
(Medical Journals/Acta D-V, 2017)
Toward an objective measure of functional disability in dysferlinopathy
(WILEY-BLACKWELL, 2016)
Dynamin-2 mutations linked to Centronuclear Myopathy impair actin-dependent trafficking in muscle cells
(Nature Publishing Group, 2017)
Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibres due to a DNM2 mutation
(PERGAMON-ELSEVIER SCIENCE LTD, 2011-02)
Distrofia miotónica tipo I (enfermedad de Steinert) y embarazo. Descripción de un caso clínico
(Sociedad Chilena de Neurología, Psiquiatría y Neurocirugía, 2010-10)
Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization
(British Neuropathological Society, 2011)
Further insights in nemaline myopathy (NM) with hyaline masses
(Elsevier, 2017)