Results 211 to 220 of about 2,143,667 (228)

A novel large deletion in the RYR1 gene in a Belgian family with late-onset and recessive core myopathy

Neuromuscular Disorders, 2015
Nicolas Mavroudakis, Gauthier Remiche, Marc Abramowicz   +2 more
exaly  

Core Myopathies and Risk of Malignant Hyperthermia

Survey of Anesthesiology, 2010
openaire   +1 more source

Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects

Acta Neuropathologica, 2016
Werner Stenzel, Menachem Sadeh, Peter F M van der Ven   +2 more
exaly  

PP3.4 – 1800 Ryanodine myopathies without central cores

European Journal of Paediatric Neurology, 2013
J Rocha, R Taipa, M Melo Pires, J Oliveira, MR Santos, M Santos   +5 more
openaire   +1 more source

Bilateral foot-drop as predominant symptom in nebulin () gene related “core-rod” congenital myopathy

European Journal of Medical Genetics, 2015
Edoardo Malfatti, Jocelyn Laporte, Vilma-Lotta Lehtokari   +2 more
exaly  

P72 Uncovering the role of mitochondria in the pathogenesis of core myopathies

Neuromuscular Disorders, 2010
I. Munteanu, T. Yasukawa, M.R. Duchen, F. Muntoni   +3 more
openaire   +1 more source

Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy

Neuromuscular Disorders, 2015
Susan Treves, Nicol Voermans, Heinz Jungbluth   +2 more
exaly  

Central core myopathy with RYR1 mutation masks 5q Spinal Muscular Atrophy

European Journal of Paediatric Neurology, 2011
R Quinlivan
exaly  

Nemaline myopathy type 6: Clinical and myopathological features

Muscle and Nerve, 2010
Nigel G Laing, Montse Olive, Nyamkhishig Sambuughin   +2 more
exaly  

Late-onset axial myopathy with cores due to a novel heterozygous dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene

Neuromuscular Disorders, 2009
Heinz Jungbluth, Michael Swash, Francesco Muntoni   +2 more
exaly