Keywords: میوپاتی Myotubular; myotubular myopathy; neuromuscular nondepolarizing agents;
مقالات ISI میوپاتی Myotubular (ترجمه نشده)
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در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
Case reportGrand paternal inheritance of X-linked myotubular myopathy due to mosaicism, and identification of necklace fibers in an asymptomatic male
Keywords: میوپاتی Myotubular; Myotubular myopathy; Centronuclear myopathy; Myotubularin 1; MTM1; X-linked; Paternal transmission; Necklace fiber;
Insights from genotype-phenotype correlations by novel SPEG mutations causing centronuclear myopathy
Keywords: میوپاتی Myotubular; SPEG; Exome; Centronuclear myopathy; Myotubular myopathy; Whole body MRI;
WANTED - Dead or alive: Myotubularins, a large disease-associated protein family
Keywords: میوپاتی Myotubular; Congenital myopathy; Neuropathy; GTEx database; Sbf1; Myotubular myopathy; Myotubularin; MTM; Myotubularins; PPIn; phosphoinositides; PtdIns; phosphatidylinositol; CNM; centronuclear myopathy; CMT; Charcot-Marie-Tooth neuropathy; PH-GRAM; Pleckstrin Homol
A Study of a Cohort of X-Linked Myotubular Myopathy at the Clinical, Histologic, and Genetic Levels
Keywords: میوپاتی Myotubular; centronuclear myopathy; myotubular myopathy; MTM1; myotubularin; congenital myopathy;
Gait characteristics in a canine model of X-linked myotubular myopathy
Keywords: میوپاتی Myotubular; XLMTM; X-linked myotubular myopathy; AAV8; serotype-8 adeno-associated virus; Myotubular myopathy; Locomotion; Gait; Animal models; Biomechanics; Kinematics;
Large duplication in MTM1 associated with myotubular myopathy
Keywords: میوپاتی Myotubular; Myotubular myopathy; Congenital myopathy; MTM1; Gene duplication; Diagnostic testing;
Peliosis hepatis in a child with myotubular myopathy: Successful treatment using hepatic artery embolization
Keywords: میوپاتی Myotubular; Peliosis hepatis; Myotubular myopathy; Hepatic hemorrhage; Hepatic artery embolization
Adult centronuclear myopathies: A hospital-based study
Keywords: میوپاتی Myotubular; Centronuclear myopathy; DNM2; BIN1; MTM1; Myotubular myopathy; Myopathie centronucléaire; DNM2; BIN1; MTM1; Myopathie myotubulaire;
A rapid immunohistochemical test to distinguish congenital myotonic dystrophy from X-linked myotubular myopathy
Keywords: میوپاتی Myotubular; Congenital myotonic dystrophy; Myotubular myopathy; Hypotonia; Floppy infant; Muscleblind-like protein; MBNL1
Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset
Keywords: میوپاتی Myotubular; DNM2; Dynamin 2; Pleckstrin homology; GTPase; Mutation; Congenital myopathy; Centronuclear myopathy; Myotubular myopathy; Charcot-Marie-Tooth neuropathy; Myotubularin; Amphiphysin; RYR1; Neonatal
Novel molecular diagnostic approaches for X-linked centronuclear (myotubular) myopathy reveal intronic mutations
Keywords: میوپاتی Myotubular; Centronuclear myopathy; Myotubular myopathy; Myotubularin; Intronic mutations; MTM1; XLMTM;
Extreme phenotypic variability in a German family with X-linked myotubular myopathy associated with E404K mutation in MTM1
Keywords: میوپاتی Myotubular; Myotubular myopathy; XLMTM; MTM1
Immunocytochemical study of cytoskeletal proteins in centronuclear myopathies
Keywords: میوپاتی Myotubular; Centronuclear myopathy; Myotubular myopathy; Immunocytochemistry; Vimentin; Desmin; Dystrophin
Characterization of MTM1 mutations in 31 Japanese families with myotubular myopathy, including a patient carrying 240Â kb deletion in Xq28 without male hypogenitalism
Keywords: میوپاتی Myotubular; Myotubular myopathy; CXorf6; MTM1; MTMR1; Hypogenitalism;