Results 121 to 130 of about 2,672 (202)

Pharmacological Inhibition of Myostatin in a Mouse Model of Typical Nemaline Myopathy Increases Muscle Size and Force. [PDF]

Int J Mol Sci, 2023
Lindqvist J, Granzier H.
europepmc   +1 more source

A new MYH2 variant in an Italian patient expanding the clinical spectrum of MYH2-related myopathy. [PDF]

BMC Neurol
Zanotti S, Ronchi D, Napoli L, Ripolone M, Pagliarani S, Ciscato P, Bertolasi L, Del Bo R, Magri F, Velardo D, Comi GP, Corti S, Sciacco M.   +12 more
europepmc   +1 more source

Smooth muscle contractile cytoskeleton in health and disease. [PDF]

J Muscle Res Cell Motil
Carrington G, Zahedi M, Peckham M.
europepmc   +1 more source

Sarcopenia as a Multisystem Disorder-Connections with Neural and Cardiovascular Systems-A Related PRISMA Systematic Literature Review. [PDF]

Life (Basel)
Popescu C, Aurelian SM, Mirea A, Munteanu C, Vlădulescu-Trandafir AI, Anghelescu A, Oancea C, Andone I, Spînu A, Suciu AV, Stoica SI, Gîdei SM, Alecu VM, Gîță CD, Pop NL, Ciobanu V, Onose G.   +16 more
europepmc   +1 more source

Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions. [PDF]

Eur J Hum Genet
Sagath L, Kiiski K, Naidu K, Patel K, Jonson PH, Laarne M, Djordjevic D, Yoon G, LaGroon A, Rogers C, Galindo MK, Scherer K, Kunstmann E, Koparir E, Ho D, Davis M, Joshi P, Zygmunt A, Orbach R, Donkervoort S, Bönnemann CG, Savarese M, Echaniz-Laguna A, Biancalana V, Genetti CA, Iannaccone ST, Beggs AH, Wallgren-Pettersson C, Henning F, Pelin K, Lehtokari VL.   +30 more
europepmc   +1 more source

Proteomic analysis of nemaline myopathy in infants reveals distinct common dysregulated proteins and cellular pathways. [PDF]

Front Neurol
Hedberg-Oldfors C, Bedir AZ, Visuttijai K, Michael E, Oldfors A.   +4 more
europepmc   +1 more source

A Case of Nebulin-Related Nemaline Myopathy With Asymmetric Distal Lower Limb Weakness. [PDF]

Cureus
Mizutani H, Misumi Y, Hamanaka K, Tawara N, Miyatake S, Matsumoto N, Ueda M.   +6 more
europepmc   +1 more source

Revisiting the role of ischaemia in familial cardiomyopathy: insights from an NRAP gene-related cardiomyopathy. [PDF]

BMJ Case Rep, 2023
AbdelMassih AF, Al Ali A, Musleh AS, Ramsi M.   +3 more
europepmc   +1 more source

Architecture and molecular machinery of skeletal myofibers: a systematic review of the structure-function relationships. [PDF]

Front Cell Dev Biol
Zhao J, Du X, Fang W, Zhu H, Yue B.
europepmc   +1 more source

LIM and SH3 protein 2 (Lasp2) is a novel pregnane X receptor target gene in mouse liver. [PDF]

Mol Pharmacol
Konzack A, Karpale M, Smutny T, Hassanen M, Lassila P, Ahonen MH, Elkhwanky MS, Kummu O, Pavek P, Hakkola J.   +9 more
europepmc   +1 more source