Results 141 to 150 of about 5,284 (245)

NRAP reduction rescues sarcomere defects in nebulin-related nemaline myopathy. [PDF]

Hum Mol Genet, 2023
Casey JG, Kim ES, Joseph R, Li F, Granzier H, Gupta VA.   +5 more
europepmc   +1 more source

Clinical Course of Dysphagia in Patients with Nemaline Myopathy. [PDF]

Children (Basel), 2022
Yoo YJ, Shin BK, Yoon MJ, Lim SH, Kim JS, Hong BY.   +5 more
europepmc   +1 more source

Case Report: Prenatal Diagnosis of Nemaline Myopathy. [PDF]

Front Pediatr, 2022
Liu D, Yu J, Wang X, Yang Y, Yu L, Zeng S, Zhang M, Xu G.   +7 more
europepmc   +1 more source

[Clinical features and gene mutation analysis of severe congenital nemaline myopathy in one neonate].

, 2019
Xiang-Wen Hu, Wenyan Tang, Ju-Mei Gao
openalex   +2 more sources

CARE-compliant case report: Nemaline myopathy caused by the ACTA1 p.Q139H missense mutation. [PDF]

Medicine (Baltimore)
Pei X, Zhai Y, Yang F, Lu W.
europepmc   +1 more source

Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization. [PDF]

Int J Mol Sci, 2022
Gurgel-Giannetti J, Souza LS, Yamamoto GL, Belisario M, Lazar M, Campos W, Pavanello RCM, Zatz M, Reed U, Zanoteli E, Oliveira AB, Lehtokari VL, Casella EB, Machado-Costa MC, Wallgren-Pettersson C, Laing NG, Nigro V, Vainzof M.   +17 more
europepmc   +1 more source

Treatment with ActRIIB-mFc Produces Myofiber Growth and Improves Lifespan in the \u3cem\u3eActa1\u3c/em\u3e H40Y Murine Model of Nemaline Myopathy [PDF]

, 2016
Allen, Kenneth P., Beggs, Alan H., Dasgupta, Mahua, Fitts, Robert, Hardeman, Edna C., Hoffmann, Raymond G., Lawlor, Michael W., Liu, Fujun, Meng, Hui, Pearsall, R. Scott, Tinklenberg, Jennifer, Yang, Lin   +11 more
core   +1 more source

Clinically variable nemaline myopathy in a three-generation family caused by mutation of the skeletal muscle alpha-actin gene

, 2017
Vilma‐Lotta Lehtokari, Maria Gardberg, Katarina Pelin, Carina Wallgren‐Pettersson   +3 more
openalex   +2 more sources

Congenital Nemaline Myopathy: The Value of Magnetic Resonance Imaging of Muscle [PDF]

, 2015
Jonathan Ennis, David A. Dyment, Jean Michaud, Hugh J. McMillan   +3 more
openalex   +1 more source

Distinct Underlying Mechanisms of Limb and Respiratory Muscle Fiber Weaknesses in Nemaline Myopathy [PDF]

, 2013
Johan Lindqvist, Arthur J. Cheng, Guillaume Renaud, Edna C. Hardeman, Julien Ochala   +4 more
openalex   +1 more source