Results 111 to 120 of about 27,107 (181)

Myotubular myopathy

NO TO HATATSU, 1973
SOBUE, Itsuro, MUKOYAMA, Masakuni
openaire   +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

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

Manifesting carriers of X-linked myotubular myopathy: Genetic modifiers modulating the phenotype. [PDF]

Neurol Genet, 2020
Souza LS, Almeida CF, Yamamoto GL, Pavanello RCM, Gurgel-Giannetti J, da Costa SS, Anequini IP, do Carmo SA, Wang JYT, Scliar MO, Castelli EC, Otto PA, Zanoteli E, Vainzof M.   +13 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 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

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

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

Re: "Moving Forward After Two Deaths in a Gene Therapy Trial of Myotubular Myopathy" by Wilson and Flotte. [PDF]

Hum Gene Ther, 2020
Shieh PB, Bönnemann CG, Müller-Felber W, Blaschek A, Dowling JJ, Kuntz NL, Seferian AM.   +6 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