Results 141 to 150 of about 2,741 (208)

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

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

Neonatal X-linked myotubular myopathy with a de novo mutation: A case report and literature review. [PDF]

Zhong Nan Da Xue Xue Bao Yi Xue Ban
Hu Y, Huang X.
europepmc   +1 more source

X-linked myotubular myopathy and recurrent spontaneous pneumothorax: A new phenotype? [PDF]

Neurol Genet, 2019
Carstens PO, Schwaibold EMC, Schregel K, Obermaier CD, Wrede A, Zechel S, Pauli S, Schmidt J.   +7 more
europepmc   +1 more source

Three novel MTM1 pathogenic variants identified in Japanese patients with X-linked myotubular myopathy. [PDF]

Mol Genet Genomic Med, 2019
Nishikawa A, Iida A, Hayashi S, Okubo M, Oya Y, Yamanaka G, Takahashi I, Nonaka I, Noguchi S, Nishino I.   +9 more
europepmc   +1 more source

Zebrafish model of human myotubular myopathy [PDF]

Science-Business eXchange, 2009
openaire   +1 more source

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Centronuclear ("Myotubular") Myopathy

Archives of Neurology, 1969
IN 1966 Spiro and co-workers1reported a 12-year-old boy with slowly progressive weakness from infancy who had unusual muscle fibers with centrally placed nuclei. Histochemical alterations in the central portions of the muscle fibers were noted. Because of similarities between these muscle fibers and the myotubular stage of embryogenesis, the authors ...
T L, Munsat, L R, Thompson, R F, Coleman
openaire   +2 more sources

Myotubular X-linked myopathy

Russian neurological journal, 2023
Myotubular (centronuclear) myopathy is a rare hereditary disease with primary muscle damage and clinical manifestations of congenital myopathy. The article describes a clinical case of myotubular myopathy in a boy who was observed by us from the age of 2 months to 2 years 5 months. The disease was manifested by muscle weakness, hypotension, respiratory
L. B. Novikova, A. P. Akopian, K. M. Sharapova, R. F. Latypova, N. M. Faizullina   +4 more
openaire   +1 more source