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Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues

Acta neuropathologica, 2017-12, Vol.134 (6), p.889-904

2017

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X-linked Myotubular Myopathy Manifesting Carrier with Central and Peripheral Nervous System Involvement

Internal Medicine, 2024, pp.3417-23

2024

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X-Linked Myotubular Myopathy in a Female Patient with a Pathogenic Variant in the MTM1 Gene

International journal of molecular sciences, 2023-05, Vol.24 (9), p.8409

2023

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Novel Splicing Mutation in MTM1 Leading to Two Abnormal Transcripts Causes Severe Myotubular Myopathy

International journal of molecular sciences, 2022-09, Vol.23 (18), p.10274

2022

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Pathogenic mechanisms in centronuclear myopathies

Frontiers in aging neuroscience, 2014-12, Vol.6, p.339-339

2014

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MTM1 plays an important role in the regulation of zinc tolerance in Saccharomyces cerevisiae

Journal of trace elements in medicine and biology, 2021-07, Vol.66, p.126759-126759, Article 126759

2021

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Respiratory features of centronuclear myopathy in the Netherlands

Neuromuscular disorders : NMD, 2023-07, Vol.33 (7), p.580-588

2023

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Mice with muscle-specific deletion of Bin1 recapitulate centronuclear myopathy and acute downregulation of dynamin 2 improves their phenotypes

Molecular therapy, 2022-02, Vol.30 (2), p.868-880

2022

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Loss of Mtm1 causes cholestatic liver disease in a model of X-linked myotubular myopathy

The Journal of clinical investigation, 2023-09, Vol.133 (18), p.1-13

2023

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Antagonistic control of active surface integrins by myotubularin and phosphatidylinositol 3-kinase C2β in a myotubular myopathy model

Proceedings of the National Academy of Sciences - PNAS, 2022-10, Vol.119 (40), p.e2202236119-e2202236119

2022

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Systemic AAV8-Mediated Gene Therapy Drives Whole-Body Correction of Myotubular Myopathy in Dogs

Molecular therapy, 2017-04, Vol.25 (4), p.839-854

2017

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Symptomatic heterozygous X-Linked myotubular myopathy female patient with a large deletion at Xq28 and decrease expression of normal allele

European journal of medical genetics, 2021-04, Vol.64 (4), p.104170-104170, Article 104170

2021

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Multi-omics comparisons of different forms of centronuclear myopathies and the effects of several therapeutic strategies

Molecular therapy, 2021-08, Vol.29 (8), p.2514-2534

2021

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Common Pathogenic Mechanisms in Centronuclear and Myotubular Myopathies and Latest Treatment Advances

International journal of molecular sciences, 2021-10, Vol.22 (21), p.11377

2021

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“Necklace” fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy

Acta neuropathologica, 2009-03, Vol.117 (3), p.283-291

2009

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Disrupted T‐tubular network accounts for asynchronous calcium release in MTM1‐deficient skeletal muscle

The Journal of physiology, 2023-01, Vol.601 (1), p.99-121

2023

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Hepatobiliary disease in XLMTM: a common comorbidity with potential impact on treatment strategies

Orphanet journal of rare diseases, 2021-10, Vol.16 (1), p.425-425, Article 425

2021

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The intragenic microRNA miR199A1 in the dynamin 2 gene contributes to the pathology of X-linked centronuclear myopathy

The Journal of biological chemistry, 2020-06, Vol.295 (26), p.8656-8667

2020

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Long‐term effects of systemic gene therapy in a canine model of myotubular myopathy

Muscle & nerve, 2017-11, Vol.56 (5), p.943-953

2017

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Novel SPEG mutations in congenital myopathies: Genotype–phenotype correlations

Muscle & nerve, 2019-03, Vol.59 (3), p.357-362

2019

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Single Intramuscular Injection of AAV-shRNA Reduces DNM2 and Prevents Myotubular Myopathy in Mice

Molecular therapy, 2018-04, Vol.26 (4), p.1082-1092

2018

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Non-compaction cardiomyopathy and early respiratory failure in an adult symptomatic female carrier of centronuclear myopathy caused by a MTM1 mutation

Neuromuscular disorders : NMD, 2018-11, Vol.28 (11), p.952-955

2018

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Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy

Human mutation, 2012-06, Vol.33 (6), p.949-959

2012

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Mutation spectrum of the MTM1 gene in XLMTM patients: 10 years of experience in prenatal and postnatal diagnosis

Clinical genetics, 2016-01, Vol.89 (1), p.93-98

2016

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Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues

X-linked Myotubular Myopathy Manifesting Carrier with Central and Peripheral Nervous System Involvement

X-Linked Myotubular Myopathy in a Female Patient with a Pathogenic Variant in the MTM1 Gene

Novel Splicing Mutation in MTM1 Leading to Two Abnormal Transcripts Causes Severe Myotubular Myopathy

Pathogenic mechanisms in centronuclear myopathies

Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial

MTM1 plays an important role in the regulation of zinc tolerance in Saccharomyces cerevisiae

Respiratory features of centronuclear myopathy in the Netherlands

Mice with muscle-specific deletion of Bin1 recapitulate centronuclear myopathy and acute downregulation of dynamin 2 improves their phenotypes

Loss of Mtm1 causes cholestatic liver disease in a model of X-linked myotubular myopathy

Antagonistic control of active surface integrins by myotubularin and phosphatidylinositol 3-kinase C2β in a myotubular myopathy model

Systemic AAV8-Mediated Gene Therapy Drives Whole-Body Correction of Myotubular Myopathy in Dogs

Symptomatic heterozygous X-Linked myotubular myopathy female patient with a large deletion at Xq28 and decrease expression of normal allele

Multi-omics comparisons of different forms of centronuclear myopathies and the effects of several therapeutic strategies

Common Pathogenic Mechanisms in Centronuclear and Myotubular Myopathies and Latest Treatment Advances

“Necklace” fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy

Disrupted T‐tubular network accounts for asynchronous calcium release in MTM1‐deficient skeletal muscle

Hepatobiliary disease in XLMTM: a common comorbidity with potential impact on treatment strategies

The intragenic microRNA miR199A1 in the dynamin 2 gene contributes to the pathology of X-linked centronuclear myopathy

Long‐term effects of systemic gene therapy in a canine model of myotubular myopathy

Novel SPEG mutations in congenital myopathies: Genotype–phenotype correlations

Single Intramuscular Injection of AAV-shRNA Reduces DNM2 and Prevents Myotubular Myopathy in Mice

Non-compaction cardiomyopathy and early respiratory failure in an adult symptomatic female carrier of centronuclear myopathy caused by a MTM1 mutation

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy

Mutation spectrum of the MTM1 gene in XLMTM patients: 10 years of experience in prenatal and postnatal diagnosis

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