Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing
E Kondo, T Nishimura, T Kosho, Y Inaba… - American Journal of …, 2012 - Wiley Online Library
Nemaline myopathy (NM) is a group of congenital myopathies, characterized by the
presence of distinct rod‐like inclusions “nemaline bodies” in the sarcoplasm of skeletal …
presence of distinct rod‐like inclusions “nemaline bodies” in the sarcoplasm of skeletal …
Myopathies inflammatoires, myopathies nécrosantes auto-immunes, myopathies génétiques de l'adulte: frontières diagnostiques
D Dimitri, B Eymard - La Revue de médecine interne, 2012 - Elsevier
Résumé Les myopathies inflammatoires représentent un chapitre majeur de la pathologie
musculaire acquise de l'adulte. Les reconnaître est impératif car elles requièrent des …
musculaire acquise de l'adulte. Les reconnaître est impératif car elles requièrent des …
The Actin Cytoskeleton and Membrane Organisation in T Lymphocytes
R Cornely, T Grewal, K Gaus - Cytoskeleton and Human Disease, 2012 - Springer
The dynamics of the actin cytoskeleton are under the strong influence of signalling events at
the membrane and membrane domains. In T cells, the importance of actin-membrane …
the membrane and membrane domains. In T cells, the importance of actin-membrane …
Thin Filament Diseases of Striated Muscle
AJ Kee, EC Hardeman - Cytoskeleton and Human Disease, 2012 - Springer
Mutations in many genes that encode proteins that form or associate with the thin filament of
the striated muscle sarcomere cause congenital skeletal and cardiac muscle diseases …
the striated muscle sarcomere cause congenital skeletal and cardiac muscle diseases …