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
Utility of clinical exome sequencing in the evaluation of neonates with suspected genetic condition - An observational study from tertiary neonatal care unit in South India.
Usha Devi R et al.
European Journal of Medical Genetics, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 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
A phosphoinositide conversion mechanism for exit from endosomes.
Ketel K et al.
Nature, 2016
Mutation spectrum of the MTM1 gene in XLMTM patients: 10 years of experience in prenatal and postnatal diagnosis.
Longo G et al.
Clinical Genetics, 2016
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
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
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
Characterization of MTM1 mutations in 31 Japanese families with myotubular myopathy, including a patient carrying 240 kb deletion in Xq28 without male hypogenitalism.
Tsai TC et al.
Neuromuscular Disorders : Nmd, 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
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
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