Journal Publications

Recent Publications:

 
Liver health in myotubular and centronuclear myopathies: a patient-driven data collection study to better understand liver health and improve standards of care, Bohill et al (2026)

Genetic Landscape and Diagnostic Outcomes of UK Patients With Congenital Myopathies and Muscular Dystrophies Over a 10-Year Period Sarkozy, Muntoni et al (2026)

Lysosomal phosphoinositide turnover acts upstream of RagGTPase–mTORC1 and controls muscle growth Mélanie Picot et al (2026)

277th ENMC international workshop: Congenital myopathies: revising and revisiting nomenclature and diagnostic guidelines, 21–23 June 2024, Hoofddorp, The Netherlands Villar-Quiles et al (2026)

AAV8 gene therapy and dietary insults together precipitate cholestatic liver disease in a mouse model of
X-linked myotubular myopathy Emanuela Pannia et al (2026)

Gene therapy for children with X-linked myotubular myopathy: a plain language summary of publication for the ASPIRO study Shieh et al (2025)

Liver function in X-linked myotubular myopathy and autosomal dominant centronuclear myopathy: Data of the unite-CNM study Colombo et al (2025)

Lessons Learned from Clinical Studies in Centronuclear Myopathies: The Patient Perspective Stinissen and Voermans et al (2024)

The Myotubular and Centronuclear Myopathy Patient Registry: A multifunctional tool for translational research Bullivant, Sen, Page, Moat, Marini-Bettolo et al (2023)

Neuromuscular Features in XL-MTM Carriers : A Cross-sectional Study in an Unselected Cohort  Franken, Bouman, Reumers, et al (2022)

X-Linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibition Dowling et al (2022)

INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy Dowling et al (2022)

X-Linked Myotubular Myopathy Lawlor, Dowling (2021)

Hepatobiliary disease in XLMTM: a common comorbidity with potential impact on treatment strategies D’Amico, et al (2021)

The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy  Deneubourg, et al (2021)

Making sense of missense variants in TTN‐related congenital myopathies Rees, et al (2021)

Directed evolution of a family of AAV capsid variants enabling potent muscle-directed gene delivery across species Tabebordbar, et al (2021)

Clinical and genetic analysis of a case with centronuclear myopathy caused by SPEG gene mutation: a case report and literature review, Zhang, et al (2021)

rAAV-related therapy fully rescues myonuclear and monofilament function in X-Linked myotubular myopathy Ross, Tasfaout, Levy et al (2020)

Developing Best Practice Guidelines for Management of Mouthpiece Ventilation in Neuromuscular Disorders Chatwin, et al (2020)

INCEPTUS pre-phase 1, prospective, non-interventional, natural history run-in study to evaluate subjects aged 4 years and younger with X-linked myotubular myopathy (XLMTM) Servais, et al (2019)

X-linked myotubular myopathy: A prospective international natural history study Annoussamy, et al (2019)

Therapeutic Aspects in Myotubular Myopathies Jungbluth and Muntoni (2019)

Mortality and Respiratory Support in X-linked Myotubular Myopathy: A RECENSUS Retrospective Analysis Graham et al (2019)

Congenital myopathies: disorders of excitation–contraction coupling and muscle contraction  Jungbluth et al (2018)

Centronuclear myopathies under attack: A plethora of therapeutic targets Tasfaout et al (2018)

Tamoxifen prolongs survival and alleviates symptoms in mice with fatal x-linked myotubular myopathy Gayi et al (2018)

Tamoxifen therapy in a murine model of myotubular myopathy Dowling et al (2018)

Reducing dynamin 2 (DNM2) rescues DNM2-related dominant centronuclear myopathy  Buono et al (2018)

Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy  Biancalana et al (2018)

Single intramuscular injection of AAV-shRNA reduces DNM2 and prevents myotubular myopathy in mice Tasfaout et al (2018)

Airways clearance techniques in neuromuscular disorders: a state of the art review Chatwin et al (2018)

A multicentre, retrospective medical record review of X linked myotubular myopathy: the RECENSUS study Beggs et al (2017)

Amphiphysin (BIN1) negatively regulates dynamin 2 for normal muscle maturation Cowling et al (2017)

Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues, Biancalana et al (2017)

Expression of the neuropathy-associated MTMR2 gene rescues MTM-associated myopathy, Raess et al (2017)

A natural history study of X linked myotubular myopathy Amburgey et al (2017)

Systemic AAV8-mediated gene therapy drives whole-body correction of myotubular myopathy in dogs Buj-Bello and Childers (2017)

Progressive structural defects in canine centronuclear myopathy indicate a role for HACD1 in maintaining skeletal muscle membrane systems Walmsley et al (2017)

Current and Future Therapeutic Approaches to the Congenital Myopathies  Jungbluth et al (2016)

Congenital myopathies : not only a paediatric topic Jungbluth, Voermans et al (2016)

PIK3C2B inhibition improves function and prolongs survival in myotubular myopathy animal models Dowling et al (2016)

Skeletal muscle pathology in X lined Myotubular Myopathy: review with cross-species comparisons Lawlor et al (2016)

A better molecular understanding of myotubular myopathy Haucke et al (2016)

Other Selected Publications:

Pathogenic mechanisms in centronuclear myopathies. Jungbluth and Gautel (2014)

Reducing dynamin 2 expression rescues X-linked centronuclear myopathy Laporte et al (2014)

N-WASP is required for Amphiphysin 2/BIN1 dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathy Gomes et al (2014)

Gene therapy prolongs survival and restores function in murine and canine models of myotubular myopathy Childers et al (2014)

Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy Laporte et al (2013)

Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy Lawlor et al (2013)

MTM1 mutation associated with XLMTM in Labrador Retrievers Beggs and Böhm et al (2013)

Next generation sequencing for molecular diagnosis of neuromuscular diseases Böhm and Le Gras et al (2012)

Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models Dowling and Buj-Bello and Pierson et al (2012)

X linked myotubular myopathy due to a complex rearrangement involving a duplication of MTM1 exon 10 Trump, Cullup et al (2012)

Inhibition of activin receptor type IIB increases strength and lifespan in myotubularin-deficient mice Lawlor et al (2012)

Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies  Robb et al (2011)

Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle  Laporte et al (2010)

Orphanet Journal of Rare Diseases : Centronuclear (myotubular myopathy) H Jungbluth, C Wallgren-Petterssen, J Laporte (2008)

Mutations in BIN1 distrupt interaction with DNM2 and cause autosomal recessive centronuclear myopathy J. Laporte et al (2007)

Mutations in DNM2 cause dominant centronuclear myopathy Laporte et al (2005)

X inactivation patterns in carriers of X linked myotubular myopathy Kristiansen et al (2003)

Genotype-phenotype correlations in X linked myotubular myopathy McEntegert et al (2002)

Medical complications in long-term survivors with X linked myotubular myopathy Herman et al (1999)

Thanks to the Authors for providing us with copies of their publications.