Results 201 to 210 of about 2,143,667 (228)

A new phenotype of RYR1-myopathy: Mild dominant calf myopathy with core pathology

Neuromuscular Disorders, 2016
M. Jokela, P. Isohanni, S. Penttilä, B. Udd   +3 more
openaire   +1 more source

NEB-related core-rod myopathy with distinct clinical and pathological features

Muscle and Nerve, 2016
Jin-Hong Shin, Dae-Seong Kim
exaly  

A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions.

Brain, 2003
Martin Lammens, André Reis, H J Ter Laak   +2 more
exaly  

heterozygous mutation (I4898T) causing lethal core–rod myopathy in twins

European Journal of Medical Genetics, 2011
Guy Brochier, Aurelio Hernández-Laín, Joel Lunardi   +2 more
exaly  

Novel RYR1 missense mutation causes core rod myopathy

European Journal of Neurology, 2008
Angela Kaindl, M von der Hagen, A Huebner   +2 more
exaly  

MYOCARDIAL “CORE-LIKE” LESIONS IN A CONGENITAL MYOPATHY

Journal of Neuropathology and Experimental Neurology, 1989
D. G. Davis, K. Nelson, W. R. Markesbery
openaire   +1 more source

Central core myopathy with autophagy.

Muscle & nerve, 2018
Ana, Cotta, Julia F, Paim, Rita De C M, Pavanello, Leticia, Nogueira, Leonardo G, Leão, Rafael, Xavier-Neto, Monica M, Navarro, Elmano, Carvalho, Jaquelin, Valicek, Eni B, Silveira, Reinaldo I, Takata, Mariz, Vainzof   +11 more
openaire   +1 more source

Adult‐onset of nemaline myopathy, associated with cores and abnormal mitochondria

Muscle & Nerve, 1994
R, Pourmand, B, Azzarelli
openaire   +2 more sources

Muscle spindles exhibit core lesions and extensive degeneration of intrafusal fibers in the mouse model of core myopathy

Biochemical and Biophysical Research Communications, 2015
David H Maclennan, Elena Zvaritch
exaly  

Asymmetric Muscle Involvement in an Indian Family With Central Core Myopathy

Journal of Clinical Neuromuscular Disease, 2018
Razia K, Adam, Ananthanarayanan, Kasinathan, Naveen, Sankhyan, Pratibha, Singhi   +3 more
openaire   +2 more sources