List of works - Jocelyn Laporte

ACTN2 mutations cause "Multiple structured Core Disease" (MsCD)

scientific article published on 30 January 2019

Allele-Specific CRISPR/Cas9 Correction of a Heterozygous DNM2 Mutation Rescues Centronuclear Myopathy Cell Phenotypes

scientific article published on 27 February 2019

Amphiphysin 2 modulation rescues myotubular myopathy and prevents focal adhesion defects in mice

scientific article published on 01 March 2019

BIN1 recovers tauopathy-induced long-term memory deficits in mice and interacts with Tau through Thr348 phosphorylation

scientific article published on 07 May 2019

Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation ⬇️

scientific article published on December 3, 2010

Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy ⬇️

scientific article published on September 1, 1997

Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in theMTM1 gene ⬇️

scientific article published on January 1, 1998

Differential physiological role of BIN1 isoforms in skeletal muscle development, function and regeneration

scientific article published on 29 September 2020

Dynamin-2 reduction rescues the skeletal myopathy of a SPEG-deficient mouse model

scientific article published in 2022

Extensive germinal mosaicism in a family with X linked myotubular myopathy simulates genetic heterogeneity ⬇️

scientific article published on March 1, 1998

Functional analyses of STIM1 mutations reveal a common pathomechanism for tubular aggregate myopathy and Stormorken syndrome

scientific article published on 19 October 2020

IMPatienT: an Integrated web application to digitize, process and explore Multimodal PATIENt daTa

Impacts of massively parallel sequencing for genetic diagnosis of neuromuscular disorders ⬇️

scientific article published on 07 December 2012

MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers ⬇️

scientific article published on August 3, 2010

Myotubular myopathy caused by multiple abnormal splicing variants in the MTM1 RNA in a patient with a mild phenotype ⬇️

scientific article published on January 18, 2012

STIM1 over-activation generates a multi-systemic phenotype affecting the skeletal muscle, spleen, eye, skin, bones and immune system in mice

scientific article published on 01 May 2019

Silencing of the Ca2+ Channel ORAI1 Improves the Multi-Systemic Phenotype of Tubular Aggregate Myopathy (TAM) and Stormorken Syndrome (STRMK) in Mice