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A new centronuclear myopathy phenotype due to a novel dynamin 2 mutation
(Lippincott Williams and Wilkins, 2009)
Reply: "Necklace" fibers and "trilaminar" fibers are different
(Springer Verlag, 2009)
Keloids, spontaneous or after minor skin injury: Importance of not missing Bethlem myopathy
(Medical Journals/Acta D-V, 2017)
"Necklace" fibers, a new histological marker of late-onset MTM1- related centronuclear myopathy
(Springer Verlag, 2009)
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)
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)