Marc Bartoli

A new tool CovReport generates easy-to-understand sequencing coverage summary for diagnostic reports

Svetlana Gorokhova, Mark Gorokhov, Mathieu Cerino, 2020, Scientific Reports.

VarAFT: a variant annotation and filtration system for human next generation sequencing data

David Salgado, Christophe Béroud, Marc Bartoli, 2018, Nucleic Acids Res..

A new tool CovReport generates easy-to-understand sequencing coverage summary for diagnostic reports

Svetlana Gorokhova, Mark Gorokhov, Mathieu Cerino, 2019, bioRxiv.

Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing

Christophe Béroud, Svetlana Gorokhova, Mathieu Cerino, 2015, Journal of Neurology, Neurosurgery & Psychiatry.

A new pathway encompassing calpain 3 and its newly identified substrate cardiac ankyrin repeat protein is involved in the regulation of the nuclear factor‐κB pathway in skeletal muscle

Isabelle Richard, Marc Bartoli, N. Bourg, 2010, The FEBS journal.

Imaging calpain protease activity by multiphoton FRET in living mice.

Isabelle Richard, Marc Bartoli, J. Davoust, 2005, Journal of molecular biology.

NF‐NF‐κBB‐dependent expression of the antiapoptotic factor c‐FLIP is regulated by calpain 3, the protein involved in limb‐girdle muscular dystrophy type 2A

Hanns Lochmuller, Gérard Lefranc, Isabelle Richard, 2008, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Calpain 3: a key regulator of the sarcomere?

Isabelle Richard, Marc Bartoli, I. Richard, 2006, The FEBS journal.

UMD‐DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene

Nilah Monnier, Pierre Cau, Nicolas Lévy, 2012, Human mutation.

Genetic Characterization of a French Cohort of GNE‐mutation negative inclusion body myopathy patients with exome sequencing

Svetlana Gorokhova, Jean-François Deleuze, Bruno Eymard, 2017, Muscle & nerve.