French Muscular Dystrophy Association (AFM), France

 
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2017

  • A new mouse model for desminopathies: physiopathological mechanisms, muscle repair and therapy
  • Acetylcholine receptor binding B cells as biomarker for myasthenia gravis
  • Acylated and Unacylated Ghrelin, inflammation, and muscle wasting: the unexpected role of novel and old ghrelin receptors
  • Advanced therapy medicinal products for the treatment of ocular defects in Ectrodactyly-Ectodermal Dysplasia-Clefting (EEC) syndrome
  • Analysis of the DM2 pathogenic mechanisms using Drosophila as model system
  • ASC-1, a novel actor in the pathophysiology of congenital muscle disorders
  • Assessing muscle fibrosis by magnetic resonance imaging using a novel contrast agent
  • Bone morphogenetic proteins regulate patterning of limb muscles
  • Characterization of a new model of mdx mice deficient in the enzyme CD38: towards the protective role on the Ca2+ homeostasis deregulation
  • Characterization of CASK protein function in the regulation of ion channels in cardiomyocytes and its role in cardiac electrophysiology in vivo
  • Characterization of Liver-induced allo-specific CD8 regulatory T lymphocytes
  • Characterizing the autoantibody-producing B-cell in MuSK Myasthenia gravis and cloning the MuSK autoantibody to unravel pathogenic mechanisms of MuSK autoantibodies
  • Control of satellite cell self-renewal by Sonic hedgehog signalling and primary cilia
  • CORRET: Cell therapy with genetically corrected retinal pigment epithelium in hereditary retinal dystrophies
  • Deciphering new non-coding RNAs from introns : An atlas of new biomarkers/targets for DM1 patients
  • Deciphering the role of the heterochromatin conformation in Emery Dreifuss Muscular Dystrophy (EDMD)
  • Developing and studying the effects of innovative therapies for rare inherited retinal disease using human retinal models derived from patient iPS cells
  • Dysfunction of muscle stem cells in sepsis and regenerative therapy
  • Effect of Rituximab therapy on T-cell repertoire in MuSK positive Myasthenia Gravis
  • Epigenetic analysis of myonuclei defective in nuclear envelope components in Drosophila muscles as a model for studying Emery-Dreifuss muscular dystrophy
  • Epigenetic modulation of pro-inflammatory cell stress in inclusion body myositis
  • Evaluation of dysphagia in inclusion body myositis and oculopharyngeal muscle dystrophy by combining novel ultrasound and real-time MRI
  • Exomes as gene delivery vectors for the treatment of Machado-Joseph disease/spinocerebellar ataxia type 3
  • Experimental modulation of metabolic flexibility in Amyotrophic Lateral Sclerosis as a new therapeutic approach
  • FAT1 Signaling in skeletal muscle growth and repair: Muscle versus mesenchyme perspectives
  • Function of LIX1 and its interacting partner during digestive smooth muscle plasticity
  • Functional iPSC-based hematopoietic gene-therapy
  • Functional readouts of neutrophil mediated oxidative stress as biomarkers in plasma and urine from the Golden Retriever Muscular Dystrophy dog model for Duchenne Muscular Dystrophy
  • Gene therapy for Wolfram Syndrome
  • Generating novel tools to investigate the in vivo role of miR-124 in motor neurone physiology and ALS pathogenesis
  • Genome-wide profiling of nuclear-body associated regions: relation to cellular physiopathology of the spinal muscular atrophy disease
  • Guenuine mouse models to analyze congenital myasthenic syndrome with acetylcholinesterase deficit
  • Immune system involvement in DMD pathology: the role of the immunoproteasome and its therapeutic potential
  • Impact of blowpipe training on cough efficiency in neuromuscular patients : a prospective evaluation
  • Impact of pre-phonation inspiratory volume on speech quality of neuromuscular patients requiring non invasive ventilation
  • Impact of the type of interface in neuromuscular patients treated with nocturnal Noninvasive Ventilation: a randomized crossover trial
  • In vivo and in vitro direct lineage reprogramming of neuronal and somatic cells to corticospinal motor neurons
  • Liver Gene Transfer-Induced allogeneic Tolerance for organ transplantation and cell therapy
  • LNA/2’OMe mixmers against toxic CUG expanded RNA
  • Mechanosensitive ionic channels in zebrafish heart regeneration
  • Mesenchymal stem cells improve the muscle acquired myopathy after sepsis
  • Misglycosylation in Charcot-Marie-Tooth neuropathies associated to MPZ mutations
  • Mitochondrial myopathies with mtDNA instability: the role of cristae maintenance
  • MTM1-UBQLN2 involvement in proteostasis networks controlling muscle fiber mass
  • Muscle single-cell analysis in patients with myotonic dystrophy type I
  • Neonatal stem cell gene therapy for severe Mucopolysaccharidosis type II
  • Neuroprotective role of CYP46A1 in Huntington’s disease using gene transfer therapy in brain
  • NEXTGEN-AAV: Development of next-generation AAV vectors for Duchenne muscular dystrophy
  • Novel strategies to rescue stell cell regenerative impairement in DMD
  • O-GlcNAcylation: an atypical post-translational modification crucial for skeletal muscle ultrastructure and function?
  • PGC1 alpha gene expression regulation and Mitochondrial Biogenesis impairment in Muscular Dystrophies: new molecular signatures for novel therapeutic strategy
  • Pin1: a new potential target to induce slow fiber conversion in Duchenne Muscular Dystrophy
  • Preclinical assessment of an antigen-specific therapeutic approach for MG
  • Pre-clinical evaluation of tamoxifen in mouse models of X-linked centronuclear myopathy and other severe muscular diseases
  • Repeat-Repair: CRISPR/Cas9-mediated correction of triplet nucleotide repeats
  • Repurposing drugs that target eEF1A2 to increase translation of utrophin in dystrophic muscle
  • RNA processing role in muscle degeneration opens therapeutical options for adult myopathies
  • Role of E2 conjugating enzymes in the MuRF1-dependent targeting of telethonin in skeletal muscle
  • Role of LRRFIP2 in the control of heart development and skeletal muscle regeneration
  • Role of PTX3 in the pathogenesis of idiopathic inflammatory myopathies
  • Role of RNA editing during normal and abnormal Schwann cell development
  • Role of Srf transcription factor in adult muscle stem cells – Identification of downstream effectors
  • Role of Tenascin-C in muscle stem cell function
  • SELENAC: A first therapeutic trial for sepn1-related myopathy
  • Small non-coding RNAs of intron origin in Myotonic Dystrophy type 1:innovative biomarkers and candidate drivers of splicing defects
  • STAT3 signaling network in MuSCs as therapeutic target for DMD
  • Stem cell Therapy for Retinal Epithelium replacement Assay in Monogenic retinopathies
  • Strategies to enhance the efficacy of enzyme replacement and gene therapy in Pompe disease
  • Structural and molecular changes in the pre-synapse in disorders of the neuromuscular junction
  • Successive targeting of CTLA-4/B7 and PD-L1/PD-1 immunoregulatory pathways to improve transgene persistence and tolerance in the context of rAAV-mediated muscle gene therapy
  • Synaptic Inputs from and to Vulnerable and Resistant Motoneurons in Amyotrophic Lateral Sclerosis
  • Targeting PRMT6 to attenuate spinal and bulbar muscular atrophy: a silencing approach
  • Targets for heart regeneration : mechanisms controlling cardiomyocyte proliferation
  • The beneficial properties of AdipoRon in dystrophinopathies
  • The extracellular matrix collagen XV as a new player of motor axon development and regeneration: a functional study using zebrafish
  • The glucocorticoid-KLF15-BCAA pathway as a novel therapeutic target for muscle and metabolic pathologies in SMA
  • Therapeutic relevance of the sphingolipid-metabolizing enzyme acid sphingomyelinase as a new pathogenetic factor in Duchenne muscular dystrophy
  • Uncovering the function of HDAC4 in skeletal muscle
  • Understanding how membrane ether-phospholipids regulate neuron development and function to mediate neuropathophysiology of RCDP
  • Unravelling mechanisms of axonal loss in late-onset genetic neuropathies
  • Unravelling POIKTMP pathophysiology for design of therapeutic approaches
  • Upper Limbs evaluation in hereditary NeuropAthies: the ULNA project
  • Validation of non-invasive non-volitional methods for monitoring respiratory muscle function in Duchenne muscular dystrophy
  • Zebrafish as a model system for GNE Myopathy

2016

  • A gene therapy approach for treating CMT4C
  • Abnormal mitoribosomal biogenesis and protein maturation in human mitochondrial diseases
  • Adenylosuccinate Lyase deficiency – from metabolic deficiency to muscle disease using C. elegans as model organism
  • Alteration of the neuromodulatory pathways and their relationship with motor neuron hyperexcitability in Spinal Muscular Atrophy
  • Aspartylglucosaminuria gene therapy using AAV vectors to target the CNS
  • Bone morphogenetic protein-signaling regulates prenatal limb muscle development
  • Bone phenotype in Duchenne muscular dystrophy: unveiling the role of LCN2 and implications for therapy
  • Cardiac dysfunction in Duchenne Muscle Dystrophy children : pathophysiological role of type 2 ryanodine receptor
  • Cardiac dysfunction in Duchenne Muscle Dystrophy children : pathophysiological role of type 2 ryanodine receptor through hiPSC-derived cardiomyocytes
  • Cardiac involvement in myotonic dystrophy type 1 disease: development of improved diagnoses and therapeutics
  • Cardiac modelling of myofibrillar myopathy using human pluripotent stem cells to explore cardiac pathogenesis and drug testing
  • Clinical Implementation of Noninvasive Prenatal Testing for Duchenne Muscular Dystrophies
  • Control and modulation of myogenic differentiation of stem cells by using optogenetic approaches
  • CREB Binding Protein (CBP) co-activator: a new player for mitochondrial (dys)function in myogenesis?
  • Cross-sectional study to assess detailed natural disease history of limb girdle muscular dystrophy mouse models
  • Dissecting the mechanisms by which distinct muscle cell types arise in posterior cardiopharyngeal mesoderm
  • Dissecting the retrograde signaling that controls neuromuscular junction
  • Does nuclear transfer alter mitochondrial-nuclear cross-talks in the human preimplantation embryo?
  • Does the transplantation of mutant ataxin-3-depleted patient-derived NSC alleviates Machado Joseph disease (MJD)?
  • Dynamic distribution of Mib1 during mitosis of motor neuron progenitors derived from mouse ES cells
  • Dystrophin-deficient diaphragm dysfunction induced by mechanical ventilation in mdx mice
  • Elucidation of Wnt7a mechanism of action for muscle regeneration
  • Emerin self-assembly and lamin/BAF binding: impact of emerin missense mutations causing Emery-Dreifuss muscular dystrophy versus isolated cardiac defects
  • Establishing new models for primary dystroglycanopathies
  • Evaluation of the therapeutic potential of the Bornavirus X protein and X-derived peptides in amyotrophic lateral sclerosis (ALS)
  • Function of double-strain RNA-Binding Protein LIX1 and its interacting protein partner during digestive smooth muscle cell plasticity
  • Functional assessment of skeletal muscle beta2-adrenoceptor modulation by the catecholaminergic component of motor nerves, explored using in vivo optogenetics and multiphoton imaging
  • Functional validation of rare TTN missense variants
  • Gene therapy targeting neuregulins for the treatment of amyotrophic lateral sclerosis
  • Gene transfer tolerance in combined liver and muscle rAAV gene therapy
  • Genetics of Young Amyotrophic Lateral Sclerosis
  • High throughput sequencing in patients with myopathy and muscular dystrophy: phenotype-genotype correlations studies, functional analyses of TTN variants, search for novel genes
  • Human reserve cells: a dynamic tool to discover genes involved in muscle stem cell quiescence
  • Impact of protein modifications on their interactions and signalling pathways in muscular dystrophies
  • 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
  • Induced pluripotent stem cells to treat pelizaeus merzbacher disease
  • Influence of mtDNA background (haplogroups) on mitochondrial pathologies
  • Investigating novel functions of the Kir2.1 potassium channels in muscle and during bone morphogenesis
  • Investigating the connections between inflammation, cell metabolism and calcium regulation in metabolic rhabdomyolysis to design new tharapeutic approaches
  • Investigating the Molecular Genetic Basis of treatment-resistant ophthalmoplegia in a subset of Myasthenia Gravis Patients of African-genetic Ancestry
  • Investigation of Therapies for Nemaline Myopathy
  • Involvement of CXCL12 and CXCL14 chemokines in connective tissue-mediated limb muscle morphogenesis
  • Mechanisms by which alternative oxidase ameliorates locomotor deficit due to cytochrome c oxidase deficiency in Drosophila
  • Metabolic defects caused by Mitofusin 2 loss of function open up new therapeutic strategies for the Charcot-Marie-Tooth type 2A disease
  • Microglia regulate fate of embryonic sensory neurons at the onset of dorsal root ganglia formation in the embryonic spinal cord in vivo
  • Modeling infantile neuroaxonal dystrophy, A nalcn channel-related disorder, in zebrafish
  • Modelling FSHD as a tool for testing therapeutics
  • Molecular mechanism and therapeutic activity of modified U1 snRNAs in Spinal Muscular Athrophy
  • MOLECULAR MECHANISMS OF CHRONIC MUSCLE PAIN – Focus on Acid-Sensing Ion Channels (ASICs)
  • Molecular mediators of the spinal muscular atrophy NMJ phenotype
  • Monitoring synaptic function in the neuromuscular junction of a SMA mouse model which express SypHy-pHluorin
  • MuSK frizzled-like domain at the neuromuscular junction: novel insight into pathophysiology and therapeutics for myasthenia
  • Neurofilaments in Health and Charcot-Marie-Tooth diseases
  • Novel therapeutic perspectives for mitochondrial DNA depletion and deletion syndrome due to defective dNTP homeostasis: The specific case of TK2 deficiency
  • Oxidative stress: the main pathogenic process in myositis?
  • Pathomechanisms in Andersen’s syndrome : insights into excitable and non excitable tissues
  • Pathophysiology of congenital muscle weakness linked to abnormal neuromuscular excitability
  • Prion protein dysfunction in inherited metabolic myopathies
  • Prolonging vision in retinitis pigmentosa by AAV-mediated genetic modulation of the insulin/AKT/mTOR pathway
  • Proof of principle of an original therapeutic strategy for a rare disease, dominant optic atrophy
  • Regulation and morphogenesis of cranial muscle derivatives
  • Regulation of skeletal muscle mass by a novel muscle-specific alternative splicing isoform of the mitochondrial calcium uniporter activator MICU1
  • Role of Actin-SRF-MRTFA Axis in the development of dilated cardiomyopathy
  • Role of annexins in membrane repair of human skeletal muscle
  • Role of bcl-2 family proteins on calcium trafficking and cytoskeletal dynamics
  • Role of Calcium Handling Proteins and Calcineurin Signaling in Myotonic Dystrophy type 1
  • Role of proteases in muscular homeostasis and aging
  • Role of PtdIns5P and MTM1/Tiam1 interaction in X-linked recessive centronuclear/myotubular myopathy
  • Role of the Ca2+ activated Cl- channel, Anoctamin 6, in motoneuron pathophysiology
  • Role of TRF2, a key telomere complex, in skeletal muscle homeostasis
  • Roles of hypoxia and innate immunity in juvenile and adult dermatomyositis
  • Selective inhibition of heat-shock binding protein 1: A proof of concept towards a novel strategy to enhance stress response in pathological motor neurons
  • SIX homeoproteins and muscle stem cells properties
  • Skeletal Muscle as a reservoir of multipotent adult stem cells
  • Study of the multiple functions of Nfix in Muscular Dystrophies: a focus on macrophage biology
  • Targeting ataxin-1 in spinocerebellar ataxia type 1 (SCA1) patient-specific induced pluripotent stem cell-derived neurons
  • Targeting molecular pathways of disease in SBMA
  • Targeting Schwann cell proteostasis as a therapeutic strategy in Charcot-Marie-Tooth disease
  • The genetic interaction of LMNA and POPDC1. Studies of mouse mutants and EDMD and LGMD-1b patients to evaluate the role of POPDC genes as genetic modifiers
  • The niche of stem cells in the adult spinal cord: cellular diversity and molecular mechanisms underlying dormancy and activation
  • The role of axonal metabolic changes in the pathophysiology of Charcot-Marie-Tooth disease
  • Tissue engineering of human muscle: proof of principle for using iPSC-derived myogenic precursor cells and a prevascularization strategy
  • Translational suppression of nonsense mutations found in DMD
  • Understanding muscle stem cell functional decline with aging
  • Understanding the developmental onset of muscular dystrophy in a mouse model of MDC1A
  • Understanding the mechanism underpinning segregation of mitochondrial DNA mutation during somatic cell reprogramming
  • Unraveling the mode of action of Mitofusins in healthy and pathogenic mitochondrial fusion
  • 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
  • Venous thromboembolism in myotonic dystrophy type 1
  • Viral infections and the autoimmune response in inclusion body myositis
  • White adipose tissue: a stem/stromal cell provider involved in muscle regeneration?

2015

  • A phase-I/IIa, escalating-dose, open-label study to evaluate efficacy, safety and tolerability of AAV-U7 locoregional injection in patients with Duchenne Muscular Dystrophy for exon 53 skipping
  • Pre-clinical development of an AAV-mediate gene therapy for FKRP deficiency (LGMD-2I)
  • Pre-clinical development of an AAV-mediated gene therapy for type-II SMA
  • Rapamycine vs Placebo for the Treatment of Inclusion Body Myositis (RAPAMI) (website)

2014

  • Pre-clinical and clinical development of ex vivo gene therapy for sickle-cell anemia by autologous CD34+ hematopoietic stem/progenitor cells transduce by a lentiviral vector
  • Pre-clinical and clinical development of ex vivo gene therapy for sickle-cell anemia by autologous CD34+ hematopoietic stem/progenitor cells genome edited by a CRISPR/Cas9 approach
  • Pre-clinical and clinical development of ex vivo gene therapy for SCID-X1 (IL2RG deficiency) by autologous CD34+ hematopoietic stem/progenitor cells transduce by a lentiviral vector
  • Repurposing of approved drugs active in sarcoglycanopathies
  • Small molecule-based therapy for sarcoglycanopathies. Assessment of efficacy and tolerability in novel animal models

2013

  • A longitudinal study of personality and cognitive functions in DM1: implication for therapeutic trials and caring
  • A randomized, double blind, placebo-controlled phase II study of metformin in myotonic dystrophy type 1 patients MYOMET
  • Advances in oligonucleotide-mediated exonskipping for DMD and related disorders – WP3 – Natural history extension
  • An ADAMTS-like protein is required for clustering acetylcholine receptors at the C. elegans neuromuscular junction
  • Anti-atrophic role of Angiotensin 1-7 on skeletal muscle
  • Antisense oligonucleotide therapeutic strategy adapted to Erythropoietic Protoporphyria
  • Autophagy in glycogen storage disease type II and danon disease
  • Biomechanical study of neuromuscular junction and its impact on myopathies
  • Biomimetic cell niche for the study and expansion of muscle progenitor cells
  • Characterization of pathological defects in motor neurons derived from patients with Amyotrophic Lateral Sclerosis
  • Characterization of splicing alterations in motor neurons derived from human iPS-SMA cells
  • Characterization of the dynamic of neuromuscular specification during the whole body regeneration in a basal chordate
  • Charcot-Marie-Tooth type IIa: a high throughput assay
  • Clinical development of ex vivo gene therapy for CGD by autologous CD34+ hematopoietic stem/progenitor cells transduce by a lentiviral vector
  • ColQ and the post transcriptional regulation of AChR mRNA
  • Control of acetylcholine receptor expression by novel mechanisms identified at the C. elegans neuromuscular junction
  • Deciphering the molecular specificity of two neuromuscular diseases by using the yeast model system
  • Destabilizing FMR1 mRNA as a therapeutic strategy to treat FXTAS
  • Detection of insulin resistance and obesity in Duchenne/Becker muscular dystrophy
  • Development and characterization of animal models for Guillain-Barre Syndrome (GBS) and chronic inflammatory demyelinating polyneuropathy (CIDP)
  • Development of a new tool for gene therapy approach for autosomal dominant retinitis pigmentosa
  • Drosophila nesprin-1 a model of emery dreifuss muscular dystrophy. Contribution to muscle function
  • Electrophysiological biomarkers of spinal neural activity in amyotrophic lateral sclerosis
  • Epigenetic regulation of muscle stem cells: cooperation between Polycomb group/H3K27 methylation and H3K9 methylation pathways
  • Exercise prescription for Becker Muscular Dystrophy: identification of exercise limiting factors
  • Exploring cardiac pathogenesis associated to desmin mutations: a novel approach based on AAV-mediated expression
  • Function of RNA-binding proteins during Gastrointestinal smooth muscle plasticity
  • Functional Characterization of ANO5 mutated in Limb-girdle muscle dystrophy type 2L
  • Gadd45/p38 MAPK pathway during the development of cardiomyopathy
  • Gene therapy of retinal dystrophies using human models derived via patient iPS cells
  • Generation and analysis of a FKRP Reporter mouse
  • Genetic and functional characterisation of hereditary motor neuropathy (HMN)
  • Genetic correction of Xeroderma Pigmentosum skin cell
  • Genetics of familial amyotrophic lateral sclerosis
  • Ghrelin peptides as novel anti-atrophic factors acting directly in the skeletal muscle: identification of their molecular mechanisms and of their role in cancer cachexia
  • High-capacity adenovectors for homology-directed correction of dystrophin-defective myogenic cells
  • Identification and characterization of new titinopathies and related muscular dystrophies
  • Identification of E2/E3 couples involved in skeletal muscle atrophy
  • Identification of novel genes of mitochondrial translation deficiencies in human
  • Identification of the Muscle SpecificSplicing Code and implication for neuromuscular diseases
  • Identification of the post-transcriptional pathways involved in the NMDA-induced modulation of SMN2 gene expression in SMA mice
  • Impact of mitochondrial DNA (mtDNA) mutations on the maintenance of mtDNA during human embryofetal development
  • Incidence of oxidative stress on caveolae in relationship with muscle wasting: possible application to sarcopenia
  • Influence of mitochondrial homeostasis in the control of the regeneration and skeletal muscle mass
  • Inhibition of synthesis of terminal Complement Components as therapeutic strategy for peripheral neuropathies
  • Microenvironments for engineering muscle tissues in vitro: from 2D to 3D
  • Mitochondrial dNTP pool homeostasis and novel therapeutic strategies for mtDNA depletion syndromes
  • Modulation of mouse angiogenesis by targeted expression fo dystrophin-Dp71
  • Necrotizing myopathies: pathogenic role of autoantibodies and development of new immuno-assays.
  • Nemaline myopathy and related disorders: molecular genetics, pathogenesis and development of RNA-based therapy
  • Neoglyco-GAA for Pompe disease treatment
  • Neuroinflammation and regulation of chloride homeostasis of sensory-motor neurons
  • Neuromuscular junction function in Duchenne Muscular Dystrophy
  • Neuronal secretory mutants – characterization of neuromuscular junctions
  • Neurotoxic mechanisms in Drosophila models of ALS
  • New therapeutic approach of cardiac and skeletal muscle channelopathies
  • NF-YAs pharmacological therapy to potentiate the proliferative capacity of muscle satellite cells
  • Pathogenic mechanisms of Episodic Ataxia type 2: a new mouse model to investigate a novel therapeutic approach
  • Pathology of the calcium release complex
  • Pathophysiology of human mitochondrial disorders: searching for common treatable mechanisms
  • Post-genomic approaches to decipher the pathogenesis of Facioscapulohumeral dystrophy (FSHD)
  • Pre-clinical and clinical development of AAV-mediated microdystrophin delivery for gene therapy of DMD
  • Pre-clinical and clinical development of an AAV-based gene therapy for Crigler-Najjar Syndrome
  • Pre-clinical and clinical development of ex vivo gene therapy for Fanconi’s anemia by autologous CD34+ hematopoietic stem/progenitor cells transduce by a lentiviral vector
  • Preclinical phase , and Natural History – Treatment of dysphagia in oculopharyngeal muscular dystrophy
  • Protein Damage and Repair in Muscular Dystrophies
  • Regulation of mitochondrial energy metabolism by the endocannabinoid system
  • Repair of DNA breaks in mouse skeletal muscle stem cells: implications in muscle regereration in the adult
  • Rhabdomyolysis: pathogenic mechanisms of LPIN1-related disease and newly identified genes for therapeutic perspectives
  • Role of Annexin A2 in muscle inflammation in Dysferlinopathy
  • Role of chaperone-mediated autophagy in skeletal muscle homeostasis and during muscle loss
  • Role of Lipin 1 in skeletal muscle development and maintenance
  • Role of mTOR at the neuromuscular junction and in skeletal muscle integrity: implications for human diseases
  • Role of sarco(endo)plasmic reticulum calcium pumps in correcting calcium mishandling of dystrophic muscle cells
  • Role of sarco(endo)plasmic reticulum calcium pumps in the control of calcium signalling in muscle cells
  • Role of the transcription coregulator RIP140 in myelination: relevance in CMT1A pathology
  • Role of Tmem2, a novel transmembrane protein in ventricular maturation and muscle morphogenesis
  • Role of Wnt signalling during Muscle Regeneration
  • Satellite cell regulation by IL-6 in muscle regeneration
  • Selective autophagic response to proteotoxicity in motorneurons and muscle of motor neuron diseases
  • Single fiber trnascriptomics to reveal the contribution of skeletal muscle to the SMA pathogenesis
  • Six homeoproteins networks in adult muscle cells in different physiopathological conditins
  • Skeletal muscle stem cell cardiogenic and neurogenic differentiation: an in vitro and in vivo analysis
  • Social cognition and executive functions in childhood DM1
  • Specific Targeting of Gemin8/PP1gamma interaction for Opening up on a new Potential therapeutic approach for SMA
  • Speech optimization during long-term non-invasive mechanical ventilation
  • Spinal Posterior DYNAMic OSTeosynthesis device allowing growth
  • Strectch-induced membrane damages and repair in cardiomyocytes from mdx mice with dilated cardiomyopathy
  • Study of the link between triadin and microtubules
  • The molecular network underlying fate segregation of dermomyotome progenitors
  • The role fo fizzy related in myoblast fusion
  • The role of necrosome in DMD myofibre death
  • The sodium channel Nav 1,4 at the neuromuscular junction: role in congenital myasthenic syndromes
  • The transcriptional code of adult motoneurone identity in Drosophila
  • Therapeutic potential of HDAC6 inhibition in mouse models of Charcot-Marie-Tooth disease (CMT)
  • Tissue-specific expression of human GlyRS in CMT disease
  • Translational studies to evaluate the efficacy of Rimeporide, a NHE-1 inhibitor, in patients with Duchenne Muscular Dystrophy
  • Translocator Protein (TSPO) ligand in improvement of peripheral nerve regeneration, immunomodulation and pain
  • Unexpected functions of neurofilaments in normal and pathological situations of motoneurons
  • Unusual contractions in myotonic dystrophy type 1 families: identification of the CTG repeat contraction mechanisms
  • Validation of novel heart and skeletal muscle- specific regularoty elements for gene therapy
  • Whole exome sequencing to dissect genetic complexity in Fasciocapulohumeral dystrophy

2012

  • Pre-clinical evaluation of kifunensine for the therapy of LGMD-2D
  • Towards a Clinical Trial for OPMD

2011

  • Phase II, multicenter, randomized, adaptive, double-blind, placebo controlled study to assess safety and efficacy of Olesoxime (TRO19622) in 3-25 year old spinal muscular atrophy (SMA) patients
  • Pre-clinical and clinical development of ex vivo gene therapy for RS-SCID (artemis deficiency) by autologous CD34+ hematopoietic stem/progenitor cells transduce by a lentiviral vector
  • Inflammation And Metabolic Rhabdomyolysis : Towards New Therapeutic Approaches

2010

  • Accelerated development of three clinical candidates into Phase I/II studies for the treatment of selected patient populations in Duchenne
  • Clinical development of ex vivo gene therapy for beta-thalassemia
  • Clinical development of ex vivo gene therapy for WAS by autologous CD34+ hematopoietic stem/progenitor cells transduce by a lentiviral vector
  • Clinical Open-label study of the long term safety of riluzole therapy in spinal muscular atrophies types II and III, with patients previously enrolled in ASIRI double-blind study
  • Endonuclease-based therapy for Dystrophic Epidermolys bullosa
  • Estrogen receptors in dystrophic muscle: expression, function and contribution to tamoxifen effects
  • Ex vivo gene therapy approaches for recessive and dominant dystrophic epidermolysis bullosa ( DEB Therapy)
  • Non-clinical development of omigapil (SNT 201’317) for the potential treatment of congenital muscular dystrophy
  • PASTE-ES Safety, tolerability and efficacy of a human embryonic stem cells derived epidermis substitute for the treatment of inveterate sickle cell leg ulcers: a first in man Phase I/II multicenter trial
  • Phase 2a study of Ataluren (PTC124) in Nonambulatory boys with Nonsensemutation-mediated DMD/BMD (website)
  • Pre-clinical and clinical development of AAV-mediated gene therapy for myotubular myopathy
  • Pre-clinical and clinical development of gene therapy for Huntington’s Disease by intracerebral administration of a CCL-PGK-CNTF lentiviral vector
  • Pre-clinical development of an AAV-mediate gene therapy for alpha-sarcoglycan deficiency (LGMD-2D)
  • Preclinical studies for specific gene addition therapy in PDE6ß-deficient dogs
  • Study of the effect of preventive treatment with Nebivolol on the development and progression of cardiac dysfunction in children with Duchenne
  • Transplantation of human embryonic stem cell-derived cardiac progenitors for the treatment of end-stage heart