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"Necklace" fibers, a new histological marker of late-onset MTM1- related centronuclear myopathy
(Springer Verlag, 2009)
Muscle magnetic resonance imaging and histopathology in ACTA1-related congenital nemaline myopathy
(John Wiley and Sons Inc., 2014)
Keloids, spontaneous or after minor skin injury: Importance of not missing Bethlem myopathy
(Medical Journals/Acta D-V, 2017)
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)
Analysis of the DYSF Mutational Spectrum in a Large Cohort of Patients
(WILEY-LISS, 2008)