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Progetti di ricerca

Cartography and genetic identification of genes involved in child motor neuropathies AFM Téléthon - Association Française contre les Myopathies

Identification of causative genes for familial dilated cardiomyopathies and of susceptibility genes for non familial forms of the disease AFM Téléthon - Association Française contre les Myopathies

CMTHER: CMT1A phenotype correction by modulating molecules for PMP22 gene expression : role of ascorbic acid and other molecules AFM Téléthon - Association Française contre les Myopathies

Schwartz-Jampel syndrome and perlecan deficiency: test of new chemical therapeutic approaches on patients cells and study of physiopathological mechanisms in murine model AFM Téléthon - Association Française contre les Myopathies

GT-AAVRPGRIP: evaluation of a recombinant Adeno-Associated Vector serotype 5 (rAAV-5) vector for the gene replacement therapy of a new canine model of Leber congenital amaurosis (LCA) : the Dachshund dog RPGRIP-/- AFM Téléthon - Association Française contre les Myopathies

Pathological modelling of Steinert Myotrophy using human embryonic stem cells carrying the causal mutation AFM Téléthon - Association Française contre les Myopathies

Verso una nuova terapia innovativa della Sindrome di EEC attraverso il silenziamento dell'RNA allele specifico AFM Téléthon - Association Française contre les Myopathies

UMD-CFTR knowledgebase: informatic tools for the prediction and the validation of potential therapeutical biological hypothesis in cystic fibrosis AFM Téléthon - Association Française contre les Myopathies

Physiopathological study of gastrointestinal smooth muscle and Chronic Intestinal Pseudo-Obstruction (CIPO) AFM Téléthon - Association Française contre les Myopathies

Understanding the molecular mechanisms underlying familial dysautonomia AFM Téléthon - Association Française contre les Myopathies

Structure and function of dystrophin in relation with mutations / deletions in the human dystrophinopathies AFM Téléthon - Association Française contre les Myopathies

Pre-clinical development of an AAV-mediated gene therapy for type-II SMA AFM Téléthon - Association Française contre les Myopathies

Stem cell Therapy for Retinal Epithelium replacement Assay in Monogenic retinopathies AFM Téléthon - Association Française contre les Myopathies

Toward gene repair for Huntington's disease AFM Téléthon - Association Française contre les Myopathies

MuSK frizzled-like domain at the neuromuscular junction: novel insight into pathophysiology and therapeutics for myasthenia AFM Téléthon - Association Française contre les Myopathies

Oxidative stress: the main pathogenic process in myositis? AFM Téléthon - Association Française contre les Myopathies

Genetics of Young Amyotrophic Lateral Sclerosis AFM Téléthon - Association Française contre les Myopathies

Regulation of skeletal muscle mass by a novel muscle-specific alternative splicing isoform of the mitochondrial calcium uniporter activator MICU1 AFM Téléthon - Association Française contre les Myopathies

Role of the Ca2+ activated Cl- channel, Anoctamin 6, in motoneuron pathophysiology AFM Téléthon - Association Française contre les Myopathies

Targeting Schwann cell proteostasis as a therapeutic strategy in Charcot-Marie-Tooth disease AFM Téléthon - Association Française contre les Myopathies

Dissecting the retrograde signalling that controls neuromuscular Junction AFM Téléthon - Association Française contre les Myopathies

Role of Calcium Handling Proteins and Calcineurin Signaling in Myotonic Dystrophy type 1 AFM Téléthon - Association Française contre les Myopathies

Prion protein dysfunction in inherited metabolic myopathies AFM Téléthon - Association Française contre les Myopathies

Control and modulation of myogenic differentiation of stem cells by using optogenetic approaches AFM Téléthon - Association Française contre les Myopathies

Metabolic defects caused by Mitofusin 2 loss of function open up new therapeutic strategies for the Charcot-Marie-Tooth type 2A disease. AFM Téléthon - Association Française contre les Myopathies

Gene transfer tolerance in combined liver and muscle rAAV gene therapy AFM Téléthon - Association Française contre les Myopathies

Validation of non-invasive non-volitional methods for monitoring respiratory muscle function in Duchenne muscular dystrophy AFM Téléthon - Association Française contre les Myopathies

Alteration of the neuromodulatory pathways and their relationship with motor neuron hyperexcitability in Spinal Muscular Atrophy AFM Téléthon - Association Française contre les Myopathies

Translational suppression of nonsense mutations found in DMD AFM Téléthon - Association Française contre les Myopathies

In vivo investigation of skeletal muscle function after chronic administration of CsA in a mouse model of MItochondrial MYopathy: a combined anatomical, metabolic and functional study using MRI and 31P-MRS AFM Téléthon - Association Française contre les Myopathies

Venous thromboembolism in myotonic dystrophy type 1 AFM Téléthon - Association Française contre les Myopathies

Aspartylglucosaminuria gene therapy using AAV vectors to target the CNS AFM Téléthon - Association Française contre les Myopathies

A gene therapy approach for treating CMT4C AFM Téléthon - Association Française contre les Myopathies

Neurofilaments in Health and Charcot-Marie-Tooth diseases AFM Téléthon - Association Française contre les Myopathies

Investigating the connections between inflammation, cell metabolism and calcium regulation in metabolic rhabdolyolysis to design new therapeutic approaches AFM Téléthon - Association Française contre les Myopathies

Role of Actin-SRF-MRTFA Axis in the development of dilated cardiomyopathy AFM Téléthon - Association Française contre les Myopathies

Elucidation of Wnt7a mechanism of action for muscle regeneration AFM Téléthon - Association Française contre les Myopathies

Clinical Implementation of Noninvasive Prenatal Testing for Duchenne Muscular Dystrophies AFM Téléthon - Association Française contre les Myopathies

Selective inhibition of heat-shock binding protein 1: A proof of concept towards a novel strategy to enhance stress response in pathological motor neurons. AFM Téléthon - Association Française contre les Myopathies

Molecular mediators of the spinal muscular atrophy NMJ phenotype AFM Téléthon - Association Française contre les Myopathies

Abnormal mitoribosomal biogenesis and protein maturation in human mitochondrial diseases. AFM Téléthon - Association Française contre les Myopathies

Human reserve cells: a dynamic tool to discover genes involved in muscle stem cell quiescence AFM Téléthon - Association Française contre les Myopathies

Pathomechanisms in Andersen's syndrome : insights into excitable and non excitable tissues AFM Téléthon - Association Française contre les Myopathies

Functional assessment of skeletal muscle beta2-adrenoceptor modulation by the catecholaminergic component of motor nerves, explored using in vivo optogenetics and multiphoton imaging AFM Téléthon - Association Française contre les Myopathies

High throughput sequencing in patients with myopathy and muscular dystrophy: phenotype-genotype correlations studies, functional analyses of TTN variants, search for novel genes. AFM Téléthon - Association Française contre les Myopathies

Understanding the developmental onset of muscular dystrophy in a mouse model of MDC1A AFM Téléthon - Association Française contre les Myopathies

Cardiac involvement in myotonic dystrophy type 1 disease: development of improved diagnoses and therapeutics AFM Téléthon - Association Française contre les Myopathies

Bone phenotype in Duchenne muscular dystrophy: unveiling the role of LCN2 and implications for therapy. AFM Téléthon - Association Française contre les Myopathies

Establishing new models for primary dystroglycanopathies AFM Téléthon - Association Française contre les Myopathies

Dystrophin-deficient diaphragm dysfunction induced by mechanical ventilation in mdx mice. AFM Téléthon - Association Française contre les Myopathies

Emerin self-assembly and lamin/BAF binding: impact of emerin missense mutations causing Emery-Dreifuss muscular dystrophy versus isolated cardiac defects AFM Téléthon - Association Française contre les Myopathies

Pathophysiology of congenital muscle weakness linked to abnormal neuromuscular excitability AFM Téléthon - Association Française contre les Myopathies

The role of axonal metabolic changes in the pathophysiology of Charcot-Marie-Tooth disease AFM Téléthon - Association Française contre les Myopathies

Targeting ataxin-1 in spinocerebellar ataxia type 1 (SCA1) patient-specific induced pluripotent stem cell-derived neurons AFM Téléthon - Association Française contre les Myopathies

Modelling FSHD as a tool for testing therapeutics AFM Téléthon - Association Française contre les Myopathies

Using drosophila as a model system to dissect the mechanisms by which mitochondrial fusion defect triggers neuronal dysfunctions in Charcot-Marie-Tooth type 2A disease AFM Téléthon - Association Française contre les Myopathies

CREB Binding Protein (CBP) co-activator: a new player for mitochondrial (dys)function in myogenesis? AFM Téléthon - Association Française contre les Myopathies

Unraveling the mode of action of Mitofusins in healthy and pathogenic mitochondrial fusion AFM Téléthon - Association Française contre les Myopathies

Does the transplantation of mutant ataxin-3-depleted patient-derived NSC alleviates Machado Joseph disease (MJD)? AFM Téléthon - Association Française contre les Myopathies

Modeling infantile neuroaxonal dystrophy, a nalcn channel-related disorder in zebrafish AFM Téléthon - Association Française contre les Myopathies

Role of PtdIns5P and MTM1/Tiam1 interaction in X-linked recessive centronuclear/myotubular myopathy AFM Téléthon - Association Française contre les Myopathies

Evaluation of the therapeutic potential of the Bornavirus X protein and X-derived peptides in amyotrophic lateral sclerosis (ALS) AFM Téléthon - Association Française contre les Myopathies

Cardiac dysfunction in Duchenne Muscle Dystrophy children : pathophysiological role of type 2 ryanodine receptor through hiPSC-derived cardimyocytes AFM Téléthon - Association Française contre les Myopathies

Induced pluripotent stem cells to treat pelizaeus merzbacher disease AFM Téléthon - Association Française contre les Myopathies

Influence of mtDNA background (haplogroups) on mitochondrial pathologies. AFM Téléthon - Association Française contre les Myopathies

Evaluation of dysphagia in inclusion body myositis and oculopharyngeal muscle dystrophy by combining novel ultrasound and real-time MRI AFM Téléthon - Association Française contre les Myopathies

Does nuclear transfer alter mitochondrial-nuclear cross-talks in the human preimplantation embryo? AFM Téléthon - Association Française contre les Myopathies

Impact of pre-phonation inspiratory volume on speech quality of neuromuscular patients requiring non invasive ventilation AFM Téléthon - Association Française contre les Myopathies

Investigating novel functions of the Kir2.1 potassium channels in muscle and during bone morphogenesis AFM Téléthon - Association Française contre les Myopathies

Involvement of CXCL12 and CXCL14 chemokines in connective tissue-mediated limb muscle morphogenesis. AFM Téléthon - Association Française contre les Myopathies

Adenylosuccinate Lyase deficiency - from metabolic deficiency to muscle disease using C. elegans as model organism AFM Téléthon - Association Française contre les Myopathies

Dissecting the mechanisms by which distinct muscle cell types arise in posterior cardiopharyngeal mesoderm. AFM Téléthon - Association Française contre les Myopathies

Cardiac modelling of myofibrillar myopathy using human pluripotent stem cells to explore cardiac pathogenesis and drug testing AFM Téléthon - Association Française contre les Myopathies

SIX homeoproteins and muscle stem cells properties AFM Téléthon - Association Française contre les Myopathies

Role of annexins in membrane repair of human skeletal muscle AFM Téléthon - Association Française contre les Myopathies

Regulation and morphogenesis of cranial muscle derivatives AFM Téléthon - Association Française contre les Myopathies

Cartography and genetic identification of genes involved in child motor neuropathies
AFM Téléthon - Association Française contre les Myopathies

Identification of causative genes for familial dilated cardiomyopathies and of susceptibility genes for non familial forms of the disease
AFM Téléthon - Association Française contre les Myopathies

CMTHER: CMT1A phenotype correction by modulating molecules for PMP22 gene expression : role of ascorbic acid and other molecules
AFM Téléthon - Association Française contre les Myopathies

Schwartz-Jampel syndrome and perlecan deficiency: test of new chemical therapeutic approaches on patients cells and study of physiopathological mechanisms in murine model
AFM Téléthon - Association Française contre les Myopathies

GT-AAVRPGRIP: evaluation of a recombinant Adeno-Associated Vector serotype 5 (rAAV-5) vector for the gene replacement therapy of a new canine model of Leber congenital amaurosis (LCA) : the Dachshund dog RPGRIP-/-
AFM Téléthon - Association Française contre les Myopathies

Pathological modelling of Steinert Myotrophy using human embryonic stem cells carrying the causal mutation
AFM Téléthon - Association Française contre les Myopathies

Verso una nuova terapia innovativa della Sindrome di EEC attraverso il silenziamento dell'RNA allele specifico
AFM Téléthon - Association Française contre les Myopathies

UMD-CFTR knowledgebase: informatic tools for the prediction and the validation of potential therapeutical biological hypothesis in cystic fibrosis
AFM Téléthon - Association Française contre les Myopathies

Physiopathological study of gastrointestinal smooth muscle and Chronic Intestinal Pseudo-Obstruction (CIPO)
AFM Téléthon - Association Française contre les Myopathies

Understanding the molecular mechanisms underlying familial dysautonomia
AFM Téléthon - Association Française contre les Myopathies

Structure and function of dystrophin in relation with mutations / deletions in the human dystrophinopathies
AFM Téléthon - Association Française contre les Myopathies

Pre-clinical development of an AAV-mediated gene therapy for type-II SMA
AFM Téléthon - Association Française contre les Myopathies

Stem cell Therapy for Retinal Epithelium replacement Assay in Monogenic retinopathies
AFM Téléthon - Association Française contre les Myopathies

Toward gene repair for Huntington's disease
AFM Téléthon - Association Française contre les Myopathies

MuSK frizzled-like domain at the neuromuscular junction: novel insight into pathophysiology and therapeutics for myasthenia
AFM Téléthon - Association Française contre les Myopathies

Oxidative stress: the main pathogenic process in myositis?
AFM Téléthon - Association Française contre les Myopathies

Genetics of Young Amyotrophic Lateral Sclerosis
AFM Téléthon - Association Française contre les Myopathies

Regulation of skeletal muscle mass by a novel muscle-specific alternative splicing isoform of the mitochondrial calcium uniporter activator MICU1
AFM Téléthon - Association Française contre les Myopathies

Role of the Ca2+ activated Cl- channel, Anoctamin 6, in motoneuron pathophysiology
AFM Téléthon - Association Française contre les Myopathies

Targeting Schwann cell proteostasis as a therapeutic strategy in Charcot-Marie-Tooth disease
AFM Téléthon - Association Française contre les Myopathies

Dissecting the retrograde signalling that controls neuromuscular Junction
AFM Téléthon - Association Française contre les Myopathies

Role of Calcium Handling Proteins and Calcineurin Signaling in Myotonic Dystrophy type 1
AFM Téléthon - Association Française contre les Myopathies

Prion protein dysfunction in inherited metabolic myopathies
AFM Téléthon - Association Française contre les Myopathies

Control and modulation of myogenic differentiation of stem cells by using optogenetic approaches
AFM Téléthon - Association Française contre les Myopathies

Metabolic defects caused by Mitofusin 2 loss of function open up new therapeutic strategies for the Charcot-Marie-Tooth type 2A disease.
AFM Téléthon - Association Française contre les Myopathies

Gene transfer tolerance in combined liver and muscle rAAV gene therapy
AFM Téléthon - Association Française contre les Myopathies

Validation of non-invasive non-volitional methods for monitoring respiratory muscle function in Duchenne muscular dystrophy
AFM Téléthon - Association Française contre les Myopathies

Alteration of the neuromodulatory pathways and their relationship with motor neuron hyperexcitability in Spinal Muscular Atrophy
AFM Téléthon - Association Française contre les Myopathies

Translational suppression of nonsense mutations found in DMD
AFM Téléthon - Association Française contre les Myopathies

In vivo investigation of skeletal muscle function after chronic administration of CsA in a mouse model of MItochondrial MYopathy: a combined anatomical, metabolic and functional study using MRI and 31P-MRS
AFM Téléthon - Association Française contre les Myopathies

Venous thromboembolism in myotonic dystrophy type 1
AFM Téléthon - Association Française contre les Myopathies

Aspartylglucosaminuria gene therapy using AAV vectors to target the CNS
AFM Téléthon - Association Française contre les Myopathies

A gene therapy approach for treating CMT4C
AFM Téléthon - Association Française contre les Myopathies

Neurofilaments in Health and Charcot-Marie-Tooth diseases
AFM Téléthon - Association Française contre les Myopathies

Investigating the connections between inflammation, cell metabolism and calcium regulation in metabolic rhabdolyolysis to design new therapeutic approaches
AFM Téléthon - Association Française contre les Myopathies

Role of Actin-SRF-MRTFA Axis in the development of dilated cardiomyopathy
AFM Téléthon - Association Française contre les Myopathies

Elucidation of Wnt7a mechanism of action for muscle regeneration
AFM Téléthon - Association Française contre les Myopathies

Clinical Implementation of Noninvasive Prenatal Testing for Duchenne Muscular Dystrophies
AFM Téléthon - Association Française contre les Myopathies

Selective inhibition of heat-shock binding protein 1: A proof of concept towards a novel strategy to enhance stress response in pathological motor neurons.
AFM Téléthon - Association Française contre les Myopathies

Molecular mediators of the spinal muscular atrophy NMJ phenotype
AFM Téléthon - Association Française contre les Myopathies

Abnormal mitoribosomal biogenesis and protein maturation in human mitochondrial diseases.
AFM Téléthon - Association Française contre les Myopathies

Human reserve cells: a dynamic tool to discover genes involved in muscle stem cell quiescence
AFM Téléthon - Association Française contre les Myopathies

Pathomechanisms in Andersen's syndrome : insights into excitable and non excitable tissues
AFM Téléthon - Association Française contre les Myopathies

Functional assessment of skeletal muscle beta2-adrenoceptor modulation by the catecholaminergic component of motor nerves, explored using in vivo optogenetics and multiphoton imaging
AFM Téléthon - Association Française contre les Myopathies

High throughput sequencing in patients with myopathy and muscular dystrophy: phenotype-genotype correlations studies, functional analyses of TTN variants, search for novel genes.
AFM Téléthon - Association Française contre les Myopathies

Understanding the developmental onset of muscular dystrophy in a mouse model of MDC1A
AFM Téléthon - Association Française contre les Myopathies

Cardiac involvement in myotonic dystrophy type 1 disease: development of improved diagnoses and therapeutics
AFM Téléthon - Association Française contre les Myopathies

Bone phenotype in Duchenne muscular dystrophy: unveiling the role of LCN2 and implications for therapy.
AFM Téléthon - Association Française contre les Myopathies

Establishing new models for primary dystroglycanopathies
AFM Téléthon - Association Française contre les Myopathies

Dystrophin-deficient diaphragm dysfunction induced by mechanical ventilation in mdx mice.
AFM Téléthon - Association Française contre les Myopathies

Emerin self-assembly and lamin/BAF binding: impact of emerin missense mutations causing Emery-Dreifuss muscular dystrophy versus isolated cardiac defects
AFM Téléthon - Association Française contre les Myopathies

Pathophysiology of congenital muscle weakness linked to abnormal neuromuscular excitability
AFM Téléthon - Association Française contre les Myopathies

The role of axonal metabolic changes in the pathophysiology of Charcot-Marie-Tooth disease
AFM Téléthon - Association Française contre les Myopathies

Targeting ataxin-1 in spinocerebellar ataxia type 1 (SCA1) patient-specific induced pluripotent stem cell-derived neurons
AFM Téléthon - Association Française contre les Myopathies

Modelling FSHD as a tool for testing therapeutics
AFM Téléthon - Association Française contre les Myopathies

Using drosophila as a model system to dissect the mechanisms by which mitochondrial fusion defect triggers neuronal dysfunctions in Charcot-Marie-Tooth type 2A disease
AFM Téléthon - Association Française contre les Myopathies

CREB Binding Protein (CBP) co-activator: a new player for mitochondrial (dys)function in myogenesis?
AFM Téléthon - Association Française contre les Myopathies

Unraveling the mode of action of Mitofusins in healthy and pathogenic mitochondrial fusion
AFM Téléthon - Association Française contre les Myopathies

Does the transplantation of mutant ataxin-3-depleted patient-derived NSC alleviates Machado Joseph disease (MJD)?
AFM Téléthon - Association Française contre les Myopathies

Modeling infantile neuroaxonal dystrophy, a nalcn channel-related disorder in zebrafish
AFM Téléthon - Association Française contre les Myopathies

Role of PtdIns5P and MTM1/Tiam1 interaction in X-linked recessive centronuclear/myotubular myopathy
AFM Téléthon - Association Française contre les Myopathies

Evaluation of the therapeutic potential of the Bornavirus X protein and X-derived peptides in amyotrophic lateral sclerosis (ALS)
AFM Téléthon - Association Française contre les Myopathies

Cardiac dysfunction in Duchenne Muscle Dystrophy children : pathophysiological role of type 2 ryanodine receptor through hiPSC-derived cardimyocytes
AFM Téléthon - Association Française contre les Myopathies

Induced pluripotent stem cells to treat pelizaeus merzbacher disease
AFM Téléthon - Association Française contre les Myopathies

Influence of mtDNA background (haplogroups) on mitochondrial pathologies.
AFM Téléthon - Association Française contre les Myopathies

Evaluation of dysphagia in inclusion body myositis and oculopharyngeal muscle dystrophy by combining novel ultrasound and real-time MRI
AFM Téléthon - Association Française contre les Myopathies

Does nuclear transfer alter mitochondrial-nuclear cross-talks in the human preimplantation embryo?
AFM Téléthon - Association Française contre les Myopathies

Impact of pre-phonation inspiratory volume on speech quality of neuromuscular patients requiring non invasive ventilation
AFM Téléthon - Association Française contre les Myopathies

Investigating novel functions of the Kir2.1 potassium channels in muscle and during bone morphogenesis
AFM Téléthon - Association Française contre les Myopathies

Involvement of CXCL12 and CXCL14 chemokines in connective tissue-mediated limb muscle morphogenesis.
AFM Téléthon - Association Française contre les Myopathies

Adenylosuccinate Lyase deficiency - from metabolic deficiency to muscle disease using C. elegans as model organism
AFM Téléthon - Association Française contre les Myopathies

Dissecting the mechanisms by which distinct muscle cell types arise in posterior cardiopharyngeal mesoderm.
AFM Téléthon - Association Française contre les Myopathies

Cardiac modelling of myofibrillar myopathy using human pluripotent stem cells to explore cardiac pathogenesis and drug testing
AFM Téléthon - Association Française contre les Myopathies

SIX homeoproteins and muscle stem cells properties
AFM Téléthon - Association Française contre les Myopathies

Role of annexins in membrane repair of human skeletal muscle
AFM Téléthon - Association Française contre les Myopathies

Regulation and morphogenesis of cranial muscle derivatives
AFM Téléthon - Association Française contre les Myopathies

PGC1 alpha gene expression regulation and Mitochondrial Biogenesis impairment in Muscular Dystrophies: new molecular signatures for novel therapeutic strategy
AFM Téléthon - Association Française contre les Myopathies

Generating novel tools to investigate the in vivo role of miR-124 in motor neurone physiology and ALS pathogenesis
AFM Téléthon - Association Française contre les Myopathies

Misglycosylation in Charcot-Marie-Tooth neuropathies associated to MPZ mutations
AFM Téléthon - Association Française contre les Myopathies

Rigorous, integrated miRNA-DNA plasma biomarkers for amyotrophic lateral sclerosis
AFM Téléthon - Association Française contre les Myopathies