Associated Papers
Prognostic Value of Genotype-Phenotype Correlations in X-Linked Myotubular Myopathy and the Use of the Face2Gene Application as an Effective Non-Invasive Diagnostic Tool.
Kušíková K et al.
Genes, 2023
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Prevalence of monogenic disease in paediatric patients with a predominant respiratory phenotype.
Dai D et al.
Archives of Disease in Childhood, 2022
Hepatobiliary disease in XLMTM: a common comorbidity with potential impact on treatment strategies.
D'Amico A et al.
Orphanet Journal of Rare Diseases, 2021
Spectrum of Clinical Features in X-Linked Myotubular Myopathy Carriers: An International Questionnaire Study.
Reumers SFI et al.
Neurology, 2021
Genetic etiologies associated with infantile hydrocephalus in a Chinese infantile cohort.
Mei HF et al.
World Journal of Pediatrics : Wjp, 2021
X-linked myotubular myopathy: A prospective international natural history study.
Annoussamy M et al.
Neurology, 2019
Using exome sequencing to decipher family history in a healthy individual: Comparison of pathogenic and population MTM1 variants.
Penon M et al.
Molecular Genetics & Genomic Medicine, 2018
Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutations.
Bachmann C et al.
Human Molecular Genetics, 2017
Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish.
Gupta VA et al.
Plos Genetics, 2013
Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database.
Oliveira J et al.
European Journal of Human Genetics : Ejhg, 2013
Myotubularin and PtdIns3P remodel the sarcoplasmic reticulum in muscle in vivo.
Amoasii L et al.
Journal of Cell Science, 2013
Congenital myotubular myopathy with a novel MTM1 gene mutation in a premature infant presenting with ventilator dependency and intrahepatic cholestasis.
Lee IC et al.
Journal of Child Neurology, 2012
Defective membrane remodeling in neuromuscular diseases: insights from animal models.
Cowling BS et al.
Plos Genetics, 2012
Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle.
Hnia K et al.
The Journal of Clinical Investigation, 2011
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Gene symbol: MTM1. Disease: Myotubular myopathy.
Mueller OT et al.
Human Genetics, 2008
Centronuclear (myotubular) myopathy.
Jungbluth H et al.
Orphanet Journal of Rare Diseases, 2008
Gene symbol: MTM1. Disease: Myotubular myopathy?
Mueller OT et al.
Human Genetics, 2008
Multiple disease-linked myotubularin mutations cause NFL assembly defects in cultured cells and disrupt myotubularin dimerization.
Goryunov D et al.
Journal of Neurochemistry, 2008
X-linked myotubular and centronuclear myopathies.
Pierson CR et al.
Journal of Neuropathology and Experimental Neurology, 2005
X-linked myotubular myopathy: mutation R69C identified in a family with multiple neonatal deaths.
Cox K et al.
Clinical Genetics, 2005
118th ENMC International Workshop on Advances in Myotubular Myopathy. 26-28 September 2003, Naarden, The Netherlands. (5th Workshop of the International Consortium on Myotubular Myopathy).
Bertini E et al.
Neuromuscular Disorders : Nmd, 2004
Production of phosphatidylinositol 5-phosphate by the phosphoinositide 3-phosphatase myotubularin in mammalian cells.
Tronchère H et al.
The Journal of Biological Chemistry, 2004
Implication of phosphoinositide phosphatases in genetic diseases: the case of myotubularin.
Tronchère H et al.
Cellular and Molecular Life Sciences : Cmls, 2003
Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype.
Biancalana V et al.
Human Genetics, 2003
The PtdIns3P phosphatase myotubularin is a cytoplasmic protein that also localizes to Rac1-inducible plasma membrane ruffles.
Laporte J et al.
Journal of Cell Science, 2002
Characterization of mutations in fifty North American patients with X-linked myotubular myopathy.
Herman GE et al.
Human Mutation, 2002
Diagnosis of X-linked myotubular myopathy by detection of myotubularin.
Laporte J et al.
Annals of Neurology, 2001
MTM1 mutations in X-linked myotubular myopathy.
Laporte J et al.
Human Mutation, 2000
Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy.
Buj-Bello A et al.
Human Mutation, 1999