Associated Papers
OXPHOS complex deficiency in congenital myopathy: A systematic review.
du Preez MJ et al.
European Journal of Clinical Investigation, 2025
Phenotypic Heterogeneity in Genetic and Acquired Pediatric Cerebellar Disorders.
Granath K et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
X-Linked Myotubular Myopathy and Mitochondrial Function in Muscle and Liver Samples.
Inoue K et al.
Neuropediatrics, 2025
Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes-phenotypes correlations.
de Feraudy Y et al.
Genome Medicine, 2024
Low Gamma-Glutamyl Transferase Cholestasis in a Patient With X-Linked Myotubular Myopathy and Crohn's Disease.
Abi Radi Abou Jaoudeh R et al.
Acg Case Reports Journal, 2024
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
Whole exome sequencing discloses a pathogenic MTM1 gene mutation in a continuous polyhydramnios family in China: Case report and literature review.
Jin N et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2023
Prevalence of monogenic disease in paediatric patients with a predominant respiratory phenotype.
Dai D et al.
Archives of Disease in Childhood, 2022
Intrahepatic Cholestasis Is a Clinically Significant Feature Associated with Natural History of X-Linked Myotubular Myopathy (XLMTM): A Case Series and Biopsy Report.
Molera C et al.
Journal of Neuromuscular Diseases, 2022
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
X-linked myotubular myopathy mimics hereditary spastic paraplegia in two female manifesting carriers of pathogenic MTM1 variant.
Kraatari M et al.
European Journal of Medical Genetics, 2020
Manifesting carriers of X-linked myotubular myopathy: Genetic modifiers modulating the phenotype.
Souza LS et al.
Neurology. Genetics, 2020
MISTIC: A prediction tool to reveal disease-relevant deleterious missense variants.
Chennen K et al.
Plos One, 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.
Gonorazky HD et al.
American Journal of Human Genetics, 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
Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.
Biancalana V et al.
Acta Neuropathologica, 2017
The myotubularin-amphiphysin 2 complex in membrane tubulation and centronuclear myopathies.
Royer B et al.
Embo Reports, 2013
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
Predisposition to subdural hemorrhage in X-linked myotubular myopathy.
Koga H et al.
Pediatric Neurology, 2012
Myopathy in a woman and her daughter associated with a novel splice site MTM1 mutation.
Hedberg C et al.
Neuromuscular Disorders : Nmd, 2012
Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in mice.
Amoasii L 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
SM2PH-db: an interactive system for the integrated analysis of phenotypic consequences of missense mutations in proteins involved in human genetic diseases.
Friedrich A et al.
Human Mutation, 2010
"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy.
Bevilacqua JA et al.
Acta Neuropathologica, 2009
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
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
Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy.
Pierson CR et al.
Neuromuscular Disorders : Nmd, 2007
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
Phosphatidylinositol-5-phosphate activation and conserved substrate specificity of the myotubularin phosphatidylinositol 3-phosphatases.
Schaletzky J et al.
Current Biology : Cb, 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
MTM1 mutations in X-linked myotubular myopathy.
Laporte J et al.
Human Mutation, 2000
Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers.
Savarese M et al.
Neuromuscular Disorders : Nmd, 0