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Analysis of the DYSF Mutational Spectrum in a Large Cohort of Patients
(WILEY-LISS, 2008)
“Necklace” fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy
(Springer-Verlag, 2008-12-16)
Dynamin 2 Mutations Cause Sporadic Centronuclear Myopathy with Neonatal Onset
(Wiley-Liss, 2007-12)
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)
Toward an objective measure of functional disability in dysferlinopathy
(WILEY-BLACKWELL, 2016)
Dynamin-2 nervous system disorders
(International Society for Neurochemistry, 2014)
Further insights in nemaline myopathy (NM) with hyaline masses
(Elsevier, 2017)