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Dynamin-2 nervous system disorders
(International Society for Neurochemistry, 2014)
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)
Dynamin 2 Mutations Cause Sporadic Centronuclear Myopathy with Neonatal Onset
(Wiley-Liss, 2007-12)
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)
Toward an objective measure of functional disability in dysferlinopathy
(WILEY-BLACKWELL, 2016)