Results 111 to 120 of about 7,553,951 (168)

Liver function in X-linked myotubular myopathy and autosomal dominant centronuclear myopathy: Data of the unite-CNM study. [PDF]

J Neuromuscul Dis
Colombo S, Cowling BS, Eyler L, Nijkamp D, Freitag C, Thielemans L, Bouman K, Baets J, Vissing J, Quinlivan R, Guglieri M, Montagnese F, Schara-Schmidt U, Dhawan A, Lawlor MW, Voermans NC.   +15 more
europepmc   +1 more source

X-linked Myotubular Myopathy Manifesting Carrier with Central and Peripheral Nervous System Involvement. [PDF]

Intern Med
Takeuchi Y, Masuda T, Kimura N, Sumi K, Jikumaru M, Eura N, Nishino I, Matsubara E.   +7 more
europepmc   +1 more source

A Deep Intronic Variant Activates a Pseudoexon in the MTM1 Gene in a Family with X-Linked Myotubular Myopathy. [PDF]

Mol Syndromol, 2020
Fitzgerald J, Feist C, Dietz P, Moore S, Basel D.   +4 more
europepmc   +1 more source

Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy. [PDF]

Eur J Hum Genet, 2021
Bryen SJ, Oates EC, Evesson FJ, Lu JK, Waddell LB, Joshi H, Ryan MM, Cummings BB, McLean CA, MacArthur DG, Kornberg AJ, Cooper ST.   +11 more
europepmc   +1 more source

Low Gamma-Glutamyl Transferase Cholestasis in a Patient With X-Linked Myotubular Myopathy and Crohn's Disease. [PDF]

ACG Case Rep J
Abi Radi Abou Jaoudeh R, McCleary B, Radhakrishnan K.   +2 more
europepmc   +1 more source

Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis. [PDF]

Arch Dis Child, 2020
Graham RJ, Muntoni F, Hughes I, Yum SW, Kuntz NL, Yang ML, Byrne BJ, Prasad S, Alvarez R, Genetti CA, Haselkorn T, James ES, LaRusso LB, Noursalehi M, Rico S, Beggs AH.   +15 more
europepmc   +1 more source

Canine model of X-linked myotubular myopathy [PDF]

Science-Business eXchange, 2010
openaire   +1 more source

Liver Pathology of X-linked Myotubular Myopathy

X-linked myotubular myopathy is a devastating genetic muscle disease with no currently availabletherapies. Several recent treatment strategies, including AAV8-based gene therapy, have been hindered by liver toxicity related to a newly described liver ...
Karolczak, Sophie Osborne
core  

AAV-Mediated Gene Transfer Restores a Normal Muscle Transcriptome in a Canine Model of X-Linked Myotubular Myopathy. [PDF]

Mol Ther, 2020
Dupont JB, Guo J, Renaud-Gabardos E, Poulard K, Latournerie V, Lawlor MW, Grange RW, Gray JT, Buj-Bello A, Childers MK, Mack DL.   +10 more
europepmc   +1 more source

Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy: results from a substudy of the ASPIRO open-label clinical trial. [PDF]

EBioMedicine
Lawlor MW, Schoser B, Margeta M, Sewry CA, Jones KA, Shieh PB, Kuntz NL, Smith BK, Dowling JJ, Müller-Felber W, Bönnemann CG, Seferian AM, Blaschek A, Neuhaus S, Foley AR, Saade DN, Tsuchiya E, Qasim UR, Beatka M, Prom MJ, Ott E, Danielson S, Krakau P, Kumar SN, Meng H, Vanden Avond M, Wells C, Gordish-Dressman H, Beggs AH, Christensen S, Conner E, James ES, Lee J, Sadhu C, Miller W, Sepulveda B, Varfaj F, Prasad S, Rico S.   +38 more
europepmc   +1 more source