Results 131 to 140 of about 2,741 (208)

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

Gene therapy for children with X-linked myotubular myopathy: a plain language summary of publication for the ASPIRO study. [PDF]

Ther Adv Rare Dis
Shieh PB, Hughes W, Wood M, Beggs AH, Lawlor MW, Coats J, Varfaj F, Graham RJ, Kuntz NL, Dowling JJ, Müller-Felber W, Bönnemann CG, Buj Bello A, Servais L, MacBean V, Muntoni F, Foley AR, Blaschek A, James ES, Seferian A, Alfano LN, Duong T, Noursalehi M, Miller W, Lee J, Prasad S, Rico S.   +26 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

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

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

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

A mutation in MTM1 causes X-Linked myotubular myopathy in Boykin spaniels. [PDF]

Neuromuscul Disord, 2020
Olby NJ, Friedenberg S, Meurs K, DeProspero D, Guevar J, Lau J, Yost O, Guo LT, Shelton GD.   +8 more
europepmc   +1 more source

Use of the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) in X-Linked Myotubular Myopathy: Content Validity and Psychometric Performance. [PDF]

J Neuromuscul Dis, 2021
Duong T, Harding G, Mannix S, Abel C, Phillips D, Alfano LN, Bönnemann CG, Lilien C, Lowes LP, Servais L, Warken-Madelung B, Nieto Bergman S, James ES, Noursalehi M, Prasad S, Rico S, Bilder DA.   +16 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

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