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List of works by Pascal Laforet

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

scientific article

A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity

scientific article published on 11 August 2014

Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings

scientific article

Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.

scientific article

Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy

scientific article published on 3 April 2006

Clinical correlations and long-term follow-up in 100 patients with sarcoglycanopathies

scientific article published on 14 October 2020

Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study

scientific article published on 28 August 2018

Long-term benefit of enzyme replacement therapy with alglucosidase alfa in adults with Pompe disease: prospective analysis from the French Pompe Registry

scientific article published on 09 June 2020

Mutations in dynamin 2 cause dominant centronuclear myopathy

scientific article

Rescue of Pompe disease in mice by AAV-mediated liver delivery of secretable acid α-glucosidase.

scientific article published in November 2017

Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders

scientific article published on September 2013

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