Results 91 to 100 of about 1,422 (160)

Relevance of muscle biopsies in the neonatal and early infantile period: a 52 years retrospective study in the gene-sequencing era. [PDF]

Acta Neuropathol Commun
Bui MT, Fernández-Eulate G, Evangelista T, Lacène E, Brochier G, Labasse C, Madelaine A, Chanut A, Beuvin M, Borsato-Levy F, Biancalana V, Barcia G, De Lonlay P, Laporte J, Böhm J, Romero NB.   +15 more
europepmc   +1 more source

Molecular Bases of Myopathies and Their Impact on Clinical Practice: Advances and Future Perspectives. [PDF]

Int J Mol Sci
Campuzano-Donoso M, Reytor-González C, Toral-Noristz M, González Y, Simancas-Racines D.   +4 more
europepmc   +1 more source

Late-onset myopathy responsive to immunomodulatory treatment: sporadic late-onset nemaline myopathy without nemaline rods? [PDF]

BMJ Neurol Open
Sadeh M, Fellig Y, Dabby R.
europepmc   +1 more source

Nemaline Myopathy With a Compound Heterozygous Mutation: A Case Report. [PDF]

Cureus
Chalipat S, Talewad S, Gupta A, Bahal M, Mane SV.   +4 more
europepmc   +1 more source

<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

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