Results 101 to 110 of about 7,553,951 (168)

A Case of X-linked Myotubular Myopathy with Dysphasia

Nippon Jibiinkoka Gakkai Kaiho, 2021
Emiri Sato, Hideto Saigusa, Osamu Kadosono, Keisuke Yamamoto, Yasuyo Maeda, Hiroyuki Ito, Manabu Nonaka   +6 more
openaire   +2 more sources

Pharmacological PIK3C2B inhibition rescues XLMTM phenotype in mouse models and identifies molecular markers of disease

JCI Insight
X-linked myotubular myopathy (XLMTM) is a rare genetic disorder that typically presents at birth with progressive muscle weakness and respiratory difficulties and is caused by myotubularin 1 (MTM1) gene mutations.
Andrew Shearer, Melissa L. Brooks, Maxine M. Chen, Thiwanka Samarakoon, John Hsieh, Gramoz Kondakci, Emanuele Perola, Jason Brubaker, Kristina Fetalvero, Stefanie Schalm, Joana Caetano-Lopes   +10 more
doaj   +1 more source

Estimation of the Quality-of-Life Impact of X-Linked Myotubular Myopathy. [PDF]

J Neuromuscul Dis, 2021
Lloyd A, Aggio D, Slocomb TL, Lee J, Beggs AH, Bilder DA.   +5 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

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

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

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

X-linked myotubular myopathy: a clinical report and a review of the mild phenotype. [PDF]

Rev Neurol, 2023
Barreto-Mota R, Figueirinha J, Quental R, Fonseca J, Melo C, Sampaio M, Sousa R.   +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

microRNA-133a as an indicator of disease progression and treatment response in X-linked myotubular myopathy. [PDF]

Mol Ther Nucleic Acids
Maani N, Gustafson D, MacDonald P, Pannia E, Ching C, Sabha N, Fish JE, Alexander MS, Dowling JJ.   +8 more
europepmc   +1 more source