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
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
36303776 (PubMed )
Supplement: Table2.XLSX › _D__Lit-SI_pathMt_edgotype
Utility of Hypotonia Diagnostic Investigations: A 12-year Single Center Study.
AlBanji MH et al.
Molecular Genetics and Metabolism Reports, 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _D__IntAct-SI_disease_mut
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
30047259 (PubMed )
Supplement: MGG3-6-722-s002.xlsx › Helices_and_beta_sheets_clinvar
Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS.
Tian X et al.
Neurology. Genetics, 2015
Defective membrane remodeling in neuromuscular diseases: insights from animal models.
Cowling BS et al.
Plos Genetics, 2012
Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy.
Pierson CR et al.
Neuromuscular Disorders : Nmd, 2007
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
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