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List of works by Isabelle Marty

A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia ⬇️

scientific article published on May 15, 2003

Deletion of the microtubule-associated protein 6 (MAP6) results in skeletal muscle dysfunction

scientific article published on 19 September 2018

Effects of sustained low-flow ischemia on myocardial function and calcium-regulating proteins in adult and senescent rat hearts ⬇️

scientific article published on April 1, 1998

Excitation-Contraction Coupling Alterations in Myopathies

scientific article

In vivo RyR1 reduction in muscle triggers a core-like myopathy

scientific article published on 11 November 2020

Oxidative stress and successful antioxidant treatment in models of RYR1-related myopathy ⬇️

scientific article published on March 14, 2012

Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization ⬇️

scientific article published on April 1, 2011

Single delivery of an adeno-associated viral construct to transfer the CASQ2 gene to knock-in mice affected by catecholaminergic polymorphic ventricular tachycardia is able to cure the disease from birth to advanced age.

scientific article published on 2 June 2014

Triadin and CLIMP-63 form a link between triads and microtubules in muscle cells.

scientific article published on 25 August 2016

Triadin regulation of the ryanodine receptor complex

scientific article (publication date: August 2015)

Trisk 32 regulates IP3 receptors in rat skeletal myoblasts ⬇️

scientific article published on August 3, 2011

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