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