Results 121 to 130 of about 4,206 (207)

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

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

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

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

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

Nemaline myopathy [PDF]

, 2020
openaire   +1 more source

Retrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients With Nemaline Myopathy. [PDF]

Neurol Genet
Hildebrandt C, Genetti CA, Logvinenko T, Win W, Barraza-Flores P, Hayes LH, Rockowitz S, Lehtokari VL, Iannaccone ST, Darras BT, Topaloglu H, Wallgren-Pettersson C, Beggs AH.   +12 more
europepmc   +1 more source

Proteomic profiling of sporadic late-onset nemaline myopathy. [PDF]

Ann Clin Transl Neurol, 2022
Naddaf E, Dasari S, Selcen D, Charlesworth MC, Johnson KL, Mauermann ML, Kourelis T.   +6 more
europepmc   +1 more source

Sporadic late-onset nemaline myopathy with cardiomyopathy presenting as advanced heart failure despite autologous stem cell transplantation: a case report. [PDF]

Eur Heart J Case Rep
Guo C, Dou JH, Zhao S, Zhang Y.
europepmc   +1 more source