Associated Papers
Lack of myotubularin phosphatase activity is the main cause of X-linked myotubular myopathy.
Moschovaki-Filippidou F et al.
Jci Insight, 2025
Phenotypic Heterogeneity in Genetic and Acquired Pediatric Cerebellar Disorders.
Granath K et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
Integrative Approaches to Myopathies and Muscular Dystrophies: Molecular Mechanisms, Diagnostics, and Future Therapies.
Ziemian M et al.
International Journal of Molecular Sciences, 2025
Potential compensatory mechanisms preserving cardiac function in myotubular myopathy.
Simon A et al.
Cellular and Molecular Life Sciences : Cmls, 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
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Common Pathogenic Mechanisms in Centronuclear and Myotubular Myopathies and Latest Treatment Advances.
Gómez-Oca R et al.
International Journal of Molecular Sciences, 2021
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
Diagnosing X-linked Myotubular Myopathy - A German 20-year Follow Up Experience.
Gangfuss A et al.
Journal of Neuromuscular Diseases, 2021
Myostatin: a Circulating Biomarker Correlating with Disease in Myotubular Myopathy Mice and Patients.
Koch C et al.
Molecular Therapy. Methods & Clinical Development, 2020
Adult MTM1-related myopathy carriers: Classification based on deep phenotyping.
Cocanougher BT 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
Centronuclear myopathies under attack: A plethora of therapeutic targets.
Tasfaout H et al.
Journal of Neuromuscular Diseases, 2018
A natural history study of X-linked myotubular myopathy.
Amburgey K et al.
Neurology, 2017
Ca2+ handling abnormalities in early-onset muscle diseases: Novel concepts and perspectives.
Treves S et al.
Seminars in Cell & Developmental Biology, 2017
A Study of a Cohort of X-Linked Myotubular Myopathy at the Clinical, Histologic, and Genetic Levels.
Abath Neto O et al.
Pediatric Neurology, 2016
Gene therapy in monogenic congenital myopathies.
Guan X et al.
Methods (san Diego, Calif.), 2016
Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons.
Lawlor MW et al.
Journal of Neuropathology and Experimental Neurology, 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
Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.
Fattori F et al.
Journal of Neurology, 2015
Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus.
Ravenscroft G et al.
Brain : a Journal of Neurology, 2015
Syngeneic Myoblast Transplantation Improves Muscle Function in a Murine Model of X-Linked Myotubular Myopathy.
Lim HJ et al.
Cell Transplantation, 2015
Differential muscle hypertrophy is associated with satellite cell numbers and Akt pathway activation following activin type IIB receptor inhibition in Mtm1 p.R69C mice.
Lawlor MW et al.
The American Journal of Pathology, 2014
198th ENMC International Workshop: 7th Workshop on Centronuclear (Myotubular) myopathies, 31st May - 2nd June 2013, Naarden, The Netherlands.
Jungbluth H et al.
Neuromuscular Disorders : Nmd, 2013
Protein tyrosine phosphatase variants in human hereditary disorders and disease susceptibilities.
Hendriks WJ et al.
Biochimica Et Biophysica Acta, 2013
Extensive morphological and immunohistochemical characterization in myotubular myopathy.
Shichiji M et al.
Brain and Behavior, 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
Site-specific Mtm1 mutagenesis by an AAV-Cre vector reveals that myotubularin is essential in adult muscle.
Joubert R et al.
Human Molecular 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
Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy.
Lawlor MW et al.
Human Molecular Genetics, 2013
Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models.
Dowling JJ et al.
Disease Models & Mechanisms, 2012
Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype.
Pierson CR et al.
Human Molecular Genetics, 2012
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
Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in mice.
Amoasii L et al.
Plos Genetics, 2012
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
Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy.
Pierson CR et al.
Neuromuscular Disorders : Nmd, 2007
The myotubularin family of lipid phosphatases.
Clague MJ et al.
Traffic (copenhagen, Denmark), 2005
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