Marc Bartoli
Aix-Marseille Université
H-index: 38
Europe-France
Top articles of Marc Bartoli
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
Transthyretin amyloid polyneuropathy in France: A cross-sectional study with 413 patients and real-world tafamidis meglumine use (2009–2019) | Revue Neurologique | D Adams P Cintas G Solé C Tard C Labeyrie | 2024/4/19 |
Knockdown of calpain1 in lumbar motoneurons reduces spasticity after spinal cord injury in adult rats | Molecular Therapy | Marjorie Kerzonkuf Jérémy Verneuil Cécile Brocard Nejada Dingu Virginie Trouplin | 2024/1/29 |
System-level analysis of genes mutated in muscular dystrophies reveals a functional pattern associated with muscle weakness distribution | bioRxiv | Ozan Ozisik Svetlana Gorokhova Mathieu Cerino Marc Bartoli Anaïs Baudot | 2024 |
Indoxyl sulfate inhibits muscle cell differentiation via Myf6/MRF4 and MYH2 downregulation | Nephrology Dialysis Transplantation | Stanislas Bataille Nathalie McKay Laetitia Koppe Alice Beau Bérengère Benoit | 2024/1 |
Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot–Marie–Tooth disease 4H | Brain | Lara El-Bazzal Adeline Ghata Clothilde Estève Jihane Gadacha Patrice Quintana | 2023/5/2 |
Personalized medicine for neuromuscular disorders | Frontiers in Cell and Developmental Biology | Marc Bartoli Rachel M Bailey Kathrin Meyer Florian Barthélémy | 2023 |
A Dysferlin Exon 32 Nonsense Mutant Mouse Model Shows Pathological Signs of Dysferlinopathy | Biomedicines | Océane Ballouhey Marie Chapoton Benedicte Alary Sébastien Courrier Nathalie Da Silva | 2023/5/13 |
Genetic profile of patients with limb-girdle muscle weakness in the Chilean population | Genes | Mathieu Cerino Patricio González-Hormazábal Mario Abaji Sebastien Courrier Francesca Puppo | 2022/6/16 |
Altered action potential waveform and shorter axonal initial segment in hiPSC-derived motor neurons with mutations in VRK1 | Neurobiology of Disease | Rémi Bos Khalil Rihan Patrice Quintana Lara El-Bazzal Nathalie Bernard-Marissal | 2022/3/1 |
Imbalance of Neuregulin1-ErbB2/3 signaling underlies altered myelin homeostasis in models of Charcot-Marie-Tooth disease type 4H | bioRxiv | Lara El-Bazzal Adeline Ghata Clothilde Estève Patrice Quintana Nathalie Roeckel-Trévisiol | 2022/1/22 |
O. 12 Novel functional test to distinguish between variants causing dominant and recessive forms of calpainopathy | Neuromuscular Disorders | A Salvi S Courrier M Cerino N Da Silva M Krahn | 2022/10/1 |
Identification of novel mutations by targeted NGS in Moroccan families clinically diagnosed with a neuromuscular disorder | Clinica Chimica Acta | Khaoula Rochdi Mathieu Cerino Nathalie Da Silva Valérie Delague Aymane Bouzidi | 2022/1/1 |
Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49 | Genes | Mario Abaji Svetlana Gorokhova Nathalie Da Silva Tiffany Busa Maude Grelet | 2022/7/19 |
Objective evaluation of clinical actionnability for genes involved in myopathies: 51 promising genes | European Journal of Human Genetics | Maude Vecten Emmanuelle Pion Raul Juntas Morales Damien Sternberg John Rendu | 2022 |
Mechanisms of myostatin and activin A accumulation in chronic kidney disease | Nephrology Dialysis Transplantation | Stanislas Bataille Laetitia Dou Marc Bartoli Marion Sallée Julien Aniort | 2022/7 |
Compte Rendu du Séminaire Pluridisciplinaire: Potentiel, Trajectoire Equilibre: approches et enrichissements pluridisciplinaires, 15 Février 2018, Université Paris Diderot 7, CIST | Sandra Perez Charlène Le Neindre Marc Bartoli José Halloy Damienne Provitolo | 2021/2/15 | |
The dysferlin transcript containing the alternative exon 40a is essential for myocyte functions | Frontiers in Cell and Developmental Biology | Océane Ballouhey Sébastien Courrier Virginie Kergourlay Svetlana Gorokhova Mathieu Cerino | 2021/11/23 |
Refining NGS diagnosis of muscular disorders | Journal of Neurology, Neurosurgery & Psychiatry | Mathieu Cerino Emmanuelle Salort-Campana Svetlana Gorokhova Amandine Sevy Nathalie Bonello-Palot | 2021/2/1 |
First characterization of congenital myasthenic syndrome type 5 in North Africa | Molecular Biology Reports | Rochdi Khaoula Mathieu Cerino Nathalie Da Silva Valerie Delague Halima Nahili | 2021/10 |
Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients | Genetics in Medicine | Théo Charnay Véronique Blanck Mathieu Cerino Marc Bartoli Florence Riccardi | 2021/8 |
