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Marc Bartoli

As seen in: Nature, France 3 Régions, Frontiers, BioRxiv
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Articles

System-level analysis of genes mutated in muscular dystrophies reveals a functional pattern associated with muscle weakness distribution - Scientific Reports

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By Ozan Ozisik, Svetlana Gorokhova, Marc Bartoli
| Nature Verified
Abstract Muscular dystrophies (MDs) are inherited genetic diseases causing weakness and degeneration of muscles. The distribution of muscle weakness differs between MDs, involving distal muscles or proximal muscles. While the mutations in most of the MD-associated genes lead to either distal or proximal onset, there are also genes whose mutations can cause both types of onsets. We hypothesized that the genes associated with different MD onsets code proteins with distinct cellular functions.
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System-level analysis of genes mutated in muscular dystrophies reveals a functional pattern associated with muscle weakness distribution

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By Ozan Ozisik, Svetlana Gorokhova, Mathieu Cerino, Marc Bartoli
| BioRxiv
Abstract Muscular dystrophies (MDs) are inherited genetic diseases causing weakness and degeneration of muscles. The distribution of muscle weakness differs between MDs, involving distal muscles or proximal muscles. While the mutations in most of the MD-associated genes lead to either distal or proximal onset, there are also genes whose mutations can cause both types of onsets. We hypothesized that the genes associated with different MD onsets code proteins with distinct cellular functions.
Open in Who Shared Issue with article?

Promising AAV.U7snRNAs vectors targeting DMPK improve DM1 hallmarks in patient-derived cell lines

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By W. David, Marc Bartoli, Oscar Hernández-Hernández, Norio Motohashi
| Frontiers
Camila F. Almeida1, Florence Robriquet1, Tatyana A. Vetter1, Nianyuan Huang1, Reid Neinast2, Lumariz Hernandez-Rosario2, Dhanarajan Rajakumar1, W. David Arnold3,4, Kim L. McBride2,5, Kevin M. Flanigan1,3,6, Robert B.
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