Results 121 to 130 of about 2,741 (208)

X-Linked Myotubular Myopathy: A Novel Mutation Expanding the Genotypic Spectrum of a Phenotypically Heterogeneous Myopathy. [PDF]

J Pediatr Genet, 2023
Carvalho A, Costa C, Pinto M, Taipa R, Gonçalves A, Oliveira ME, Ferreira S, Ribeiro JA.   +7 more
europepmc   +1 more source

Diagnosing X-linked Myotubular Myopathy - A German 20-year Follow Up Experience. [PDF]

J Neuromuscul Dis, 2021
Gangfuss A, Schmitt D, Roos A, Braun F, Annoussamy M, Servais L, Schara-Schmidt U.   +6 more
europepmc   +1 more source

Systemic MV Gene Therapy Close to Clinical Trials for Several Neuromuscular Diseases [PDF]

Wells, D J
core   +1 more source

Myosin inhibition partially rescues the myofiber proteome in X-linked myotubular myopathy. [PDF]

JCI Insight
Gerlach Melhedegaard E, Rostedt F, Gineste C, Seaborne RA, Dugdale HF, Belhac V, Zanoteli E, Lawlor MW, Mack DL, Wallgren-Pettersson C, Hessel AL, Jungbluth H, Laporte J, Saito Y, Nishino I, Ochala J, Laitila J.   +16 more
europepmc   +1 more source

Intrahepatic Cholestasis Is a Clinically Significant Feature Associated with Natural History of X-Linked Myotubular Myopathy (XLMTM): A Case Series and Biopsy Report. [PDF]

J Neuromuscul Dis, 2022
Molera C, Sarishvili T, Nascimento A, Rtskhiladze I, Muñoz Bartolo G, Fernández Cebrián S, Valverde Fernández J, Muñoz Cabello B, Graham RJ, Miller W, Sepulveda B, Kamath BM, Meng H, Lawlor MW.   +13 more
europepmc   +1 more source

Lack of myotubularin phosphatase activity is the main cause of X-linked myotubular myopathy. [PDF]

JCI Insight
Moschovaki-Filippidou F, Kretz C, Reiss D, Chicanne G, Payrastre B, Laporte J.   +5 more
europepmc   +1 more source

Costs and health resource use in patients with X-linked myotubular myopathy: insights from US commercial claims. [PDF]

J Manag Care Spec Pharm, 2021
Sacks NC, Healey BE, Cyr PL, Slocomb T, James E, Beggs AH, Graham RJ.   +6 more
europepmc   +1 more source

Inevitable Posterior Lower Segment Cesarean Section Due to Irreducible Uterine Torsion in a Woman Carrying X-Linked Myotubular Myopathy: A Case Report. [PDF]

Cureus
Elzewawi NM, Almandeel AA, Aldossary GF, Elawad MM, Alqahtani KZ.   +4 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

Potential compensatory mechanisms preserving cardiac function in myotubular myopathy. [PDF]

Cell Mol Life Sci
Simon A, Diedhiou N, Reiss D, Goret M, Grandgirard E, Laporte J.   +5 more
europepmc   +1 more source