Results 101 to 110 of about 27,107 (181)

INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy. [PDF]

J Neuromuscul Dis, 2022
Dowling JJ, Müller-Felber W, Smith BK, Bönnemann CG, Kuntz NL, Muntoni F, Servais L, Alfano LN, Beggs AH, Bilder DA, Blaschek A, Duong T, Graham RJ, Jain M, Lawlor MW, Lee J, Coats J, Lilien C, Lowes LP, MacBean V, Neuhaus S, Noursalehi M, Pitts T, Finlay C, Christensen S, Rafferty G, Seferian AM, Tsuchiya E, James ES, Miller W, Sepulveda B, Vila MC, Prasad S, Rico S, Shieh PB, INCEPTUS investigators.   +35 more
europepmc   +1 more source

Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy

Acta Neuropathologica Communications, 2018
Valérie Biancalana, Norma B. Romero, Inger Johanne Thuestad, Jaakko Ignatius, Janne Kataja, Maria Gardberg, Delphine Héron, Edoardo Malfatti, Anders Oldfors, Jocelyn Laporte   +9 more
doaj   +1 more source

X-linked myotubular myopathy, liver disease, and gene therapy. [PDF]

J Neuromuscul Dis
Pannia E, Karolczak S, Stine R, Dowling JJ.   +3 more
europepmc   +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

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

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

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

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