Results 141 to 150 of about 2,278 (204)

<i>ACTA1</i> gene regulation in livestock: A multidimensional review on muscle development, meat quality, and genetic applications. [PDF]

Vet World
Ayuti SR, Shin S, Kim EJ, Lamid M, Warsito SH, Al Arif MA, Lokapirnasari WP, Amrina Rosyada ZN, Khairullah AR, Akmal M, Ritonga MZ, Rimayanti R, Delima M.   +12 more
europepmc   +1 more source

Integrative Approaches to Myopathies and Muscular Dystrophies: Molecular Mechanisms, Diagnostics, and Future Therapies. [PDF]

Int J Mol Sci
Ziemian M, Szmydtka J, Snoch W, Milner S, Wojciechowski S, Dłuszczakowska A, Chojnowski JW, Pallach Z, Żamojda K, Węgrzyn G, Rintz E.   +10 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

Integrated single-cell functional-proteomic profiling reveals a shift in myofibre specificity in human nemaline myopathy: A proof-of-principle study. [PDF]

J Physiol
Seaborne RAE, Moreno-Justicia R, Laitila J, Lewis CTA, Savoure L, Zanoteli E, Lawlor MW, Jungbluth H, Deshmukh AS, Ochala J.   +9 more
europepmc   +1 more source

Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes-phenotypes correlations. [PDF]

Genome Med
de Feraudy Y, Vandroux M, Romero NB, Schneider R, Saker S, Boland A, Deleuze JF, Biancalana V, Böhm J, Laporte J.   +9 more
europepmc   +1 more source

The Causality Spectrum of Dropped Head Syndrome is Broad and Includes Myopathy, Neurodegenerative Disorders, and Varia. [PDF]

Noro Psikiyatr Ars
Finsterer J, Mehri S.
europepmc   +1 more source

Alpha-Synuclein as a Potential Biomarker for Inclusion Body Myositis in Blood and Muscle. [PDF]

Neuropathol Appl Neurobiol
Mayer T, Scholle L, Foerster L, Schneider I, Stoltenburg-Didinger G, Delank KS, Kendzierski T, Koelsch A, Kleeberg K, Kraya T, Barba L, Naegel S, Schänzer A, Otto M, Mensch A.   +14 more
europepmc   +1 more source

Functional and molecular skeletal muscle adaptations to a calcium sensitizer in transgenic mouse models of Nemaline Myopathy: a potential therapeutic strategy to augment muscle force. [PDF]

, 2019
MINARDI, ELISA
core  

HIV-associated nemaline myopathy manifesting as bent spine syndrome. [PDF]

BMJ Case Rep
Nasir AZ, Jameson A.
europepmc   +1 more source

Generation of an induced pluripotent stem cell line (NCHi023-A) from a 41-year-old male with nemaline myopathy carrying autosomal dominant ACTA1 c.809-10C>A mutation. [PDF]

Stem Cell Res
Hanley M, Ye S, Zhu J, Yu Y, Lin H, Flanigan K, Rashnonejad A, Zhao MT.   +7 more
europepmc   +1 more source