Results 221 to 230 of about 13,031,197 (236)

Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene

Neuromuscular Disorders, 2003
Heinz Jungbluth, Thierry Kuntzer, Kathryn North   +2 more
exaly  

Ryanodine receptor mutations in malignant hyperthermia and central core disease

Human Mutation, 2000
K A Quane, T V McCarthy
exaly  

Functional Effects of Central Core Disease Mutations in the Cytoplasmic Region of the Skeletal Muscle Ryanodine Receptor

Journal of General Physiology, 2001
Guillermo Avila, Robert T Dirksen
exaly  

Scoliosis associated with central core disease

Brain and Development, 1994
Yutaka Tsuchiya, Toshiro Nagai
exaly  

Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia.

Brain, 2003
Joel Lunardi, N B Romero, Michel Fardeau
exaly  

Clinical features and ryanodine receptor type 1 gene mutation analysis in a Chinese family with central core disease.

Journal of Child Neurology, 2013
Xingzhi Chang, Jiong Qin, Yun Yuan
exaly  

Malignant hyperthermia and central core disease: Analysis of two families with heterogeneous clinical expression

Neuromuscular Disorders, 1993
Joel Lunardi, Y Nivoche, N B Romero
exaly  

Anaesthetic management of coronary artery bypass grafting in a patient with central core disease and susceptibility to malignant hyperthermia on statin therapy

British Journal of Anaesthesia, 2003
P J Halsall, P M Hopkins, P M Hopkins
exaly  

Mutations in RYR1 in malignant hyperthermia and central core disease†

Human Mutation, 2006
Marie-Anne Shaw, Danielle Carpenter
exaly  

The Pore Region of the Skeletal Muscle Ryanodine Receptor Is a Primary Locus for Excitation-Contraction Uncoupling in Central Core Disease

Journal of General Physiology, 2003
Guillermo Avila, Robert T Dirksen, Kristen O'Connell   +2 more
exaly