Results 91 to 100 of about 8,048 (176)

Mavacamten facilitates myosin head ON-to-OFF transitions and shortens thin filament length in relaxed mouse skeletal muscle. [PDF]

Physiol Rep
Kuehn MN, Engels NM, Nissen DL, Freundt JK, Ma W, Harris SP, Irving TC, Linke WA, Hessel AL.   +8 more
europepmc   +1 more source

Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy

Journal of Neurology Neurosurgery & Psychiatry, 2005
P. Lamont, B. Udd, Francis Mastaglia, M. D. Visser, P. Hedera, Thomas Voit, L. Bridges, Victoria A. Fabian, A. Rozemuller, N. G. Laing   +9 more
semanticscholar   +1 more source

Chronic idiopathic myopathy in Icelandic horses: A case series. [PDF]

Equine Vet J
Hansen S, Hopster-Iversen C, Berg L, Fjeldborg J, Massey C, Piercy RJ, Carstensen H.   +6 more
europepmc   +1 more source

Long-term neuromuscular, cardiac and liver outcomes in an adult man affected with Chanarin-Dorfman syndrome. [PDF]

Mol Genet Metab Rep
Noman K, Tridimas A, Lilleker JB, Nucifora G, Woolfson P, du Plessis D, Woodall A, Oldham A, Roberts ME, Bassett J, Roncaroli F, Jones SA, Coassin S, Kronenberg F, Stepien KM.   +14 more
europepmc   +1 more source

OXPHOS complex deficiency in congenital myopathy: A systematic review. [PDF]

Eur J Clin Invest
du Preez MJ, Schoonen M, Williams ME, Bisschoff M, van der Westhuizen FH.   +4 more
europepmc   +1 more source

Genetic Susceptibility to Sport-Related Muscle Injuries: Insights from the Literature and Novel Gene Candidates. [PDF]

Int J Mol Sci
Leońska-Duniec A.
europepmc   +1 more source

Allele Frequencies and Genotypes for the Ryanodine Receptor 1 Variant Causing Malignant Hyperthermia and Fatal Rhabdomyolysis With Hyperthermia in Horses. [PDF]

J Vet Intern Med
Aleman M, McCue M, Bellone RR.
europepmc   +1 more source

New cardiac and skeletal protein aggregate myopathy associated with combined MuRF1 and MuRF3 mutations.

Human Molecular Genetics, 2015
M. Olivé, S. Abdul-Hussein, A. Oldfors, J. González-Costello, P. V. D. van der Ven, D. Fürst, L. González, D. Moreno, B. Torrejón-Escribano, J. Alió, A. Pou, I. Ferrer, H. Tajsharghi   +12 more
semanticscholar   +1 more source

Navigating gastrointestinal challenges in genetic myopathies: Diagnostic insights and future directions. [PDF]

World J Methodol
Al-Beltagi M, Saeed N, Bediwy A, Elbeltagi R.   +3 more
europepmc   +1 more source

Inherited cardiomyopathies: Contemporary genetics for clinical practice. [PDF]

Indian Pacing Electrophysiol J
Ahamed H, Hari A.
europepmc   +1 more source