Results 121 to 130 of about 1,503,695 (131)

Faculty Opinions recommendation of Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature, 2009
Anders Oldfors, Homa Tajsharghi
openaire   +1 more source

A Novel Missense Mutation In The MYH7 Gene Causes An Uncharacteristic Phenotype Of Myosin Storage Myopathy: A Case Report (4422)

Neurology, 2020
Alier Marrero, Jean Mamelona, Louisa Filice, Youcef Oussedik, Nicolas Crapoulet   +4 more
openaire   +1 more source

Myosin storage myopathy mutations disrupt striated muscles in Drosophila and the myosin tail-tail interactome of human cardiac thick filaments

Biophysical Journal
Meera C. Viswanathan, Debabrata Dutta, William A. Kronert, Kripa Chitre, Raul Padron, Roger Craig, Sanford I. Bernstein, Anthony Cammarato   +7 more
openaire   +1 more source

Myosin Storage Myopathy: Slow Skeletal Myosin (MYH7) Mutation in Two Isolated Cases

Neurology, 2005
Nigel G Laing, Danielle E. Dye, W Robberecht   +2 more
exaly  

The Molecular Mechanisms of Mutations in Actin and Myosin That Cause Inherited Myopathy

International Journal of Molecular Sciences, 2018
Steven B Marston
exaly  

Mutations in the β-Myosin Rod Cause Myosin Storage Myopathy via Multiple Mechanisms

Proceedings of the National Academy of Sciences of the United States of America, 2009
Leslie Leinwand, Thomas Z Armel
exaly  

Drosophila Model of Myosin Myopathy Rescued by Overexpression of a TRIM-Protein Family Member

Proceedings of the National Academy of Sciences of the United States of America, 2018
Montse Olive, Homa Tajsharghi, Katarina Ejeskär   +2 more
exaly  

Acute Quadriplegic Myopathy: Analysis of Myosin Isoforms and Evidence for Calpain-Mediated Proteolysis

Muscle and Nerve, 1997
Andrew G Engel, A G Engel
exaly  

Myosin Storage Myopathy Associated With a Heterozygous Missense Mutation in MYH7

Annals of Neurology, 2003
Homa Tajsharghi, Anders Oldfors, Lars-Eric Thornell   +2 more
exaly  

Recessive MYH7-Related Myopathy in Two Families

Neuromuscular Disorders, 2019
Nigel G Laing, Monique Ryan, Martijn van de Locht   +2 more
exaly