Results 121 to 130 of about 4,222 (202)

Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature [PDF]

, 2015

core   +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

Potential causes of sudden cardiac death in nemaline myopathy [PDF]

, 2015

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