Journal Publications

Recent Publications:

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)

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)

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.


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