Results 181 to 188 of about 11,986 (188)

Correlation of phenotype with genotype and protein structure in RYR1-related disorders

Journal of Neurology, 2018
Katherine G Meilleur, Irene C Chrismer, Mary M Cosgrove   +2 more
exaly  

Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores†

Human Mutation, 2008
Sabrina Sacconi, Claudia Castiglioni, Julien Fauré   +2 more
exaly  

Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion†

Human Mutation, 2010
Mary Lou King, Sandra T Cooper, Kathryn North   +2 more
exaly  

Dantrolene as a possible prophylactic treatment for RYR1-related rhabdomyolysis

European Journal of Neurology, 2016
Richard Piercy, Nicol Voermans, Heinz Jungbluth   +2 more
exaly  

Functional characterization of ryanodine receptor (RYR1) sequence variants using a metabolic assay in immortalized B-lymphocytes†

Human Mutation, 2009
Werner Klingler, Giuliana Fortunato, Francesco Salvatore   +2 more
exaly  

METHODS AND KITS FOR THE DIAGNOSIS OF RYR1-RELATED DISEASES

2010
BINA SAIID, BUNGER ROLF
openaire   +4 more sources

Successful Correction by Prime Editing of a Mutation in the RYR1 Gene Responsible for a Myopathy

Cells
Jacques P. Tremblay, Kelly Godbout, Joel Rousseau   +2 more
exaly  

RyR1 myopathy: a model of hypermetabolism

openaire   +2 more sources