Marc Bartoli
Aix-Marseille University
GeneInternal medicinePhenotypePathologyMolecular biologyExome sequencingMyocyteMyopathyLimb-girdle muscular dystrophyMuscular dystrophyDysferlinopathySkeletal muscleExonDysferlinMutationGeneticsBiochemistryCalpainBioinformaticsComputational biologyMedicineBiologyCell biology
126Publications
30H-index
2,883Citations
Publications 115
Newest
#2Véronique BlanckH-Index: 1
Last. Martin Krahn (AMU: Aix-Marseille University)H-Index: 18
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PURPOSE Recent evolution of sequencing technologies and the development of international standards in variant interpretation have profoundly changed the diagnostic approaches in clinical genetics. As a consequence, many variants that were initially claimed to be disease-causing can be now reclassified as benign or uncertain in light of the new data available. Unfortunately, the misclassified variants are still present in the scientific literature and variant databases, greatly interfering with i...
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#2Mathieu CerinoH-Index: 7
Last. Martin KrahnH-Index: 18
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#1R. Bos (AMU: Aix-Marseille University)
#1Bos R (AMU: Aix-Marseille University)
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We recently described new pathogenic variants in VRK1, in patients affected with distal Hereditary Motor Neuropathy associated with upper motor neurons signs. Specifically, we provided evidences that hiPSC-derived Motor Neurons (hiPSC-MN) from these patients display Cajal bodies (CBs) disassembly and defects in neurite outgrowth and branching. We here focused on the Axonal Initial Segment (AIS) and the related firing properties of hiPSC-MNs from these patients. We found that the patients Action ...
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#1Alexandra SalviH-Index: 1
Last. Marc BartoliH-Index: 30
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#1Alexandra Salvi (AMU: Aix-Marseille University)H-Index: 1
#2Cristina Skrypnyk (Arabian Gulf University)H-Index: 8
Last. Marc Bartoli (AMU: Aix-Marseille University)H-Index: 30
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STIM1, the stromal interaction molecule 1, is the key protein for maintaining calcium concentration in the endoplasmic reticulum by triggering the Store Operated Calcium Entry (SOCE). Bi-allelic mutations in STIM1 gene are responsible for a loss-of-function in patients affected with a CRAC channelopathy syndrome in which severe combined immunodeficiency syndrome (SCID-like), autoimmunity, ectodermal dysplasia and muscle hypotonia are combined. Here, we studied two siblings from a consanguineous ...
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#1Alexandra SalviH-Index: 1
#2Cristina SkrypnykH-Index: 8
Last. Marc BartoliH-Index: 30
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#1Mathieu Cerino (AMU: Aix-Marseille University)H-Index: 7
#2Emmanuelle Salort-Campana (AMU: Aix-Marseille University)H-Index: 18
Last. Martin Krahn (AMU: Aix-Marseille University)H-Index: 18
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In our original publication by Sevy et al ,1 we described a cohort of patients affected with distal myopathy analysed by a large gene panel approach. Given the rapid evolution of genomic diagnostic data and interpretation standards, we now provide the re-evaluation of genetic diagnoses for this cohort. We reported in 2016 a patient (P8 in table 1) carrying a variant in KBTBD13 which led us to give a probable diagnosis implicating this gene.1 Based on the initial medical history of the patient, t...
1 CitationsSource
#1Mathieu Cerino (AMU: Aix-Marseille University)H-Index: 7
#2Marc Bartoli (AMU: Aix-Marseille University)H-Index: 30
Last. Ariane ChoumertH-Index: 1
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1 CitationsSource
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#1Eugénie Dionnet (AMU: Aix-Marseille University)H-Index: 2
#2Aurelia Defour (AMU: Aix-Marseille University)H-Index: 14
Last. Svetlana Gorokhova (AMU: Aix-Marseille University)H-Index: 8
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Improving the accuracy of variant interpretation during diagnostic sequencing is a major goal for genomic medicine. In order to explore an often-overlooked splicing effect of missense variants, we developed the functional assay ("minigene") for the majority of exons of CAPN3, the gene responsible for Limb Girdle Muscular Dystrophy (LGMD). By systematically screening 21 missense variants distributed along the gene, we found that eight clinically relevant missense variants located at a certain dis...
4 CitationsSource