List of works - Marc Bartoli

A codon-optimized Mecp2 transgene corrects breathing deficits and improves survival in a mouse model of Rett syndrome.

scientific article

A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome

scientific article

A mouse model for monitoring calpain activity under physiological and pathological conditions.

scientific article published on 20 October 2006

A naturally occurring human minidysferlin protein repairs sarcolemmal lesions in a mouse model of dysferlinopathy.

scientific article published in September 2010

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

scientific article

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

scientific article published on 10 April 2020

A novel calmodulin-binding protein, belonging to the WD-repeat family, is localized in dendrites of a subset of CNS neurons

scientific article

A third of LGMD2A biopsies have normal calpain 3 proteolytic activity as determined by an in vitro assay

scientific article published on 22 January 2007

AAV-mediated delivery of a mutated myostatin propeptide ameliorates calpain 3 but not alpha-sarcoglycan deficiency

scientific article published in March 2007

Calcium-dependent plasma membrane repair requires m- or mu-calpain, but not calpain-3, the proteasome, or caspases

scientific article published on 23 September 2009

Calpain 3: a key regulator of the sarcomere?

scientific article published on August 2006

Calpains in muscle wasting.

scientific article

Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency

scientific article published on 18 December 2017

Clinical massively parallel sequencing for the diagnosis of myopathies

scientific article published on 26 May 2015

Cloning of human striatin cDNA (STRN), gene mapping to 2p22-p21, and preferential expression in brain

scientific article

Comment on: A novel dysferlin-mutant pseudoexon bypassed with antisense oligonucleotides

scientific article published on July 2015

Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders.

scientific article published on 4 September 2015

Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation

scientific article published on 03 March 2019

Coverage analysis of lists of genes involved in heterogeneous genetic diseases following benchtop exome sequencing using the ion proton

article

Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy

scientific article

Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers

scientific article published on 16 July 2014

Distribution of striatin, a newly identified calmodulin-binding protein in the rat brain: an in situ hybridization and immunocytochemical study

scientific article published in July 1998

Dysferlin Exon 32 Skipping in Patient Cells

scientific article published on 01 January 2018

Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy

scientific article published on 17 June 2013

Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping

scientific article published in February 2010

Efficient recovery of dysferlin deficiency by dual adeno-associated vector-mediated gene transfer

scientific article published on 13 February 2010

Entire CAPN3 gene deletion in a patient with limb-girdle muscular dystrophy type 2A.

scientific article published on 5 August 2014

Eosinophilic infiltration related to CAPN3 mutations: a pathophysiological component of primary calpainopathy?

scientific article published on 01 October 2011

Exclusion of mutations in the dysferlin alternative exons 1 of DYSF-v1, 5a, and 40a in a cohort of 26 patients

scientific article published in February 2010

Exome sequencing as a second-tier diagnostic approach for clinically suspected dysferlinopathy patients

scientific article published on 30 October 2014

Exon 32 Skipping of Dysferlin Rescues Membrane Repair in Patients' Cells

scientific article published on September 2015

Extension of the phenotypic spectrum of GLE1-related disorders to a mild congenital form resembling congenital myopathy

scientific article published on 14 June 2020

Further heterogeneity in myopathy with tubular aggregates?

scientific article published on 01 December 2012

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

scientific article

Identification of splicing defects caused by mutations in the dysferlin gene

scientific article published on December 2014

Identification of variants in the 4q35 gene FAT1 in patients with a facioscapulohumeral dystrophy-like phenotype

scientific article published on 19 March 2015

Imaging calpain protease activity by multiphoton FRET in living mice

scientific article published on 16 December 2004

Immunolabelling and flow cytometry as new tools to explore dysferlinopathies

scientific article published on 23 October 2009

Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing: Table 1

scientific article published on 17 March 2015

Ins and outs of therapy in limb girdle muscular dystrophies.

scientific article published on 12 February 2007

Lack of correlation between outcomes of membrane repair assay and correction of dystrophic changes in experimental therapeutic strategy in dysferlinopathy

scientific article (publication date: 2012)

Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1

scientific article published on 01 July 2019

Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study

scientific article

Mannosidase I inhibition rescues the human alpha-sarcoglycan R77C recurrent mutation

scientific article

Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy.

scientific article published on 25 July 2017

Muscle Cells Fix Breaches by Orchestrating a Membrane Repair Ballet.

scientific article published in January 2018

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

scientific article

Noninvasive monitoring of therapeutic gene transfer in animal models of muscular dystrophies.

scientific article

Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy.

scientific article published on June 2015

Phenotypic Correction of α-Sarcoglycan Deficiency by Intra-arterial Injection of a Muscle-specific Serotype 1 rAAV Vector

scientific article published in January 2007

Relationships between striatin-containing neurons and cortical or thalamic afferent fibres in the rat striatum. An ultrastructural study by dual labelling

scientific article published in July 1998

Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications

scientific article

Rs488087 single nucleotide polymorphism as predictive risk factor for pancreatic cancers

scientific article published on 16 October 2015

Safety and efficacy of AAV-mediated calpain 3 gene transfer in a mouse model of limb-girdle muscular dystrophy type 2A.

scientific article published on 14 November 2005

Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report

scientific article

Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay

scientific article published on 15 July 2020

Truncated prelamin A expression in HGPS-like patients: a transcriptional study.

scientific article published on 4 February 2015

Tumor protein 53-induced nuclear protein 1 deficiency alters mouse gastrocnemius muscle function and bioenergetics in vivo

scientific article published on 01 May 2019

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

scientific article published on 29 December 2011

Validation of comparative genomic hybridization arrays for the detection of genomic rearrangements of the calpain-3 and dysferlin genes

scientific article published on 01 January 2012

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

scientific article published in July 2018

List of works by Marc Bartoli

A codon-optimized Mecp2 transgene corrects breathing deficits and improves survival in a mouse model of Rett syndrome.

A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome

A mouse model for monitoring calpain activity under physiological and pathological conditions.

A naturally occurring human minidysferlin protein repairs sarcolemmal lesions in a mouse model of dysferlinopathy.

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

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

A novel calmodulin-binding protein, belonging to the WD-repeat family, is localized in dendrites of a subset of CNS neurons

A third of LGMD2A biopsies have normal calpain 3 proteolytic activity as determined by an in vitro assay

AAV-mediated delivery of a mutated myostatin propeptide ameliorates calpain 3 but not alpha-sarcoglycan deficiency

Calcium-dependent plasma membrane repair requires m- or mu-calpain, but not calpain-3, the proteasome, or caspases

Calpain 3: a key regulator of the sarcomere?

Calpains in muscle wasting.

Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency

Clinical massively parallel sequencing for the diagnosis of myopathies

Cloning of human striatin cDNA (STRN), gene mapping to 2p22-p21, and preferential expression in brain

Comment on: A novel dysferlin-mutant pseudoexon bypassed with antisense oligonucleotides

Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders.

Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation

Coverage analysis of lists of genes involved in heterogeneous genetic diseases following benchtop exome sequencing using the ion proton

Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy

Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers

Distribution of striatin, a newly identified calmodulin-binding protein in the rat brain: an in situ hybridization and immunocytochemical study

Dysferlin Exon 32 Skipping in Patient Cells

Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy

Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping

Efficient recovery of dysferlin deficiency by dual adeno-associated vector-mediated gene transfer

Entire CAPN3 gene deletion in a patient with limb-girdle muscular dystrophy type 2A.

Eosinophilic infiltration related to CAPN3 mutations: a pathophysiological component of primary calpainopathy?

Exclusion of mutations in the dysferlin alternative exons 1 of DYSF-v1, 5a, and 40a in a cohort of 26 patients

Exome sequencing as a second-tier diagnostic approach for clinically suspected dysferlinopathy patients

Exon 32 Skipping of Dysferlin Rescues Membrane Repair in Patients' Cells

Extension of the phenotypic spectrum of GLE1-related disorders to a mild congenital form resembling congenital myopathy

Further heterogeneity in myopathy with tubular aggregates?

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

Identification of splicing defects caused by mutations in the dysferlin gene

Identification of variants in the 4q35 gene FAT1 in patients with a facioscapulohumeral dystrophy-like phenotype

Imaging calpain protease activity by multiphoton FRET in living mice

Immunolabelling and flow cytometry as new tools to explore dysferlinopathies

Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing: Table 1

Ins and outs of therapy in limb girdle muscular dystrophies.

Lack of correlation between outcomes of membrane repair assay and correction of dystrophic changes in experimental therapeutic strategy in dysferlinopathy

Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1

Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study

Mannosidase I inhibition rescues the human alpha-sarcoglycan R77C recurrent mutation

Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy.

Muscle Cells Fix Breaches by Orchestrating a Membrane Repair Ballet.

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

Noninvasive monitoring of therapeutic gene transfer in animal models of muscular dystrophies.

Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy.

Phenotypic Correction of α-Sarcoglycan Deficiency by Intra-arterial Injection of a Muscle-specific Serotype 1 rAAV Vector

Relationships between striatin-containing neurons and cortical or thalamic afferent fibres in the rat striatum. An ultrastructural study by dual labelling

Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications

Rs488087 single nucleotide polymorphism as predictive risk factor for pancreatic cancers

Safety and efficacy of AAV-mediated calpain 3 gene transfer in a mouse model of limb-girdle muscular dystrophy type 2A.

Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report

Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay

Truncated prelamin A expression in HGPS-like patients: a transcriptional study.

Tumor protein 53-induced nuclear protein 1 deficiency alters mouse gastrocnemius muscle function and bioenergetics in vivo

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

Validation of comparative genomic hybridization arrays for the detection of genomic rearrangements of the calpain-3 and dysferlin genes

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