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Funded by an IRDiRC member =

Research projects

BELGIUM

ANTWERPEN
ANTWERPEN

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
BRON

FRANCE

ILE-DE-FRANCE
EVRY

ITALY

VENETO
PADOVA

Funded by an IRDiRC memberThe role of Raptor/mTORC1 in adult skeletal muscle
Venetian Institute of Molecular Medicine
Dipartimento di Scienze Biomediche

JAPAN

JAPAN
TOKYO

Funded by an IRDiRC memberEstablishment of Integrated Genome Analysis Center for Hereditary Muscle Disease
National Center of Neurology and Psychiatry
Department of Neuromuscular Research

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

TREAT-NMD: Accelerating Treatments for Neuromuscular Diseases (coordination)
Newcastle upon Tyne Hospitals NHS Trust
John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine

CANADA

Alberta
CALGARY

Funded by an IRDiRC memberIdentifying Cellular and Molecular Modifiers of Muscular Dystrophy
University of Calgary
Department of Biochemistry and Molecular Biology

CANADA

Ontario
OTTAWA

Funded by an IRDiRC memberDifferential role of myogenic regulatory factors in establishing muscle-specific gene expression
Ottawa Hospital Research Institute
Sprott Center for Stem Cell Research

CANADA

Ontario
OTTAWA

Funded by an IRDiRC memberSatellite Stem Cells from Skeletal Muscle for the Treatment of Neuromuscular Disease
Ottawa Hospital Research Institute
Sprott Center for Stem Cell Research

CANADA

Ontario
OTTAWA, ONTARIO

Funded by an IRDiRC memberSIX family transcription factors in adult muscle regeneration.
University of Ottawa
Faculty of Medicine -

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

ILE-DE-FRANCE
EVRY

Funded by an IRDiRC memberWhite adipose tissue: a stem/stromal cell provider involved in muscle regeneration?
AFM Téléthon - Association Française contre les Myopathies

FRANCE

OCCITANIE
TOULOUSE

Funded by an IRDiRC memberIntermuscular adipose tissue as a trigger of muscle wasting?
Institut des Maladies Métaboliques et Cardiovasculaires
Laboratoire de recherche sur les obésités

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Funded by an IRDiRC memberIgG4 in inflammatory neuropathies: pathogenic effects and novel targets
Faculté de médecine de Marseille - Secteur Nord
Centre de Recherche en Neurobiologie et Neurophysiologie de Marseille

ITALY

EMILIA ROMAGNA
ADDRESS: NOT PROVIDED - IT

ITALY

EMILIA ROMAGNA
ADDRESS: NOT PROVIDED - IT

ITALY

LAZIO
ROMA

Funded by an IRDiRC memberDiverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

ITALY

LAZIO
ROMA

JAPAN

JAPAN
AICHI

SPAIN

Madrid
MADRID

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberInnate immune activation in autoimmune myopathy
Institution: Information not provided - US

AUSTRIA

WIEN
WIEN

Funded by an IRDiRC memberBRCAddict: Harnessing BRCAness as a therapeutic target in high-risk pediatric solid tumors - AT
Allgemeines Krankenhaus der Stadt Wien
Universitätsklinik für Kinder- und Jugendheilkunde

AUSTRIA

WIEN
WIEN

Funded by an IRDiRC memberITCC-P4: Pediatric Preclinical Proof of Concept Platform - AT
Medizinische Universität Wien
Institut für Krebsforschung

CANADA

Ontario
OTTAWA, ONTARIO

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

Funded by an IRDiRC memberOxidative stress: the main pathogenic process in myositis?
Institution: Information not provided - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

Funded by an IRDiRC memberRegulation and morphogenesis of cranial muscle derivatives
Institution: Information not provided - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

GRAND-EST
ILLKIRCH-GRAFFENSTADEN

Funded by an IRDiRC memberPhysiopathology of muscle atrophy in myotonic dystrophy
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Médecine translationnelle et neurogénétique

FRANCE

ILE-DE-FRANCE
CRÉTEIL

Funded by an IRDiRC memberiDM-scope: the international French-Quebec myotonic dystrophy registry
CHU Henri Mondor
Centre expert de maladie neuro-musculaire

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberTreatment of Anthacycline-Induced Cardiomyopathy by Intravenous Administration of Cardiovascular Progenitor Cell-Derived Extracellular Vesicles
CHU Paris IdF Ouest - HEGP Hôpital Européen Georges Pompidou
Thérapie cellulaire en pathologie cardiovasculaire

FRANCE

ILE-DE-FRANCE
PARIS

FRANCE

ILE-DE-FRANCE
PARIS

Synemin and neurofilaments associated with desmin function in neuromuscular diseases
Université Pierre et Marie Curie - Paris 6 - UPMC
Génétique et Physiopathologie des muscles - UR 4

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberCardiac modeling of myofibrillar myopathy using human induced pluripotent stem cells to explore cardiac pathogenesis and drug testing
Université Pierre et Marie Curie - Paris 6 - UPMC
Adaptation Biologique et Vieillissement

FRANCE

ILE-DE-FRANCE
VILLEJUIF

Funded by an IRDiRC memberBRCAddict: Harnessing BRCAness as a therapeutic target in high-risk pediatric solid tumors - FR (Partener 1)
CLCC Institut Gustave Roussy
Département de Cancérologie de l'enfant et de l'adolescent

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

GERMANY

Baden-Württemberg
HEIDELBERG

INFORM-Registry: INdividualized Therapy FOr Relapsed Malignancies in Childhood
Deutsches Krebsforschungszentrum
Klinische Kooperationseinheit Pädiatrische Onkologie

GERMANY

Bayern
ERLANGEN

Late Effects Surveillance System (LESS) for oncological diseases in children und adolescents
Kinder- und Jugendklinik des Universitätsklinikums Erlangen
Kinder- und Jugendklinik

ITALY

LAZIO
ROMA

Funded by an IRDiRC memberThe RAMYD (risk of arrhythmias in Myotonc Dystrophy Type I) study: phase II
Università Cattolica del Sacro Cuore
Istituto di Anatomia Umana e Biologia Cellulare

ITALY

LOMBARDIA
PAVIA

Funded by an IRDiRC memberClinical morphological and molecular study of italian patients with congenital myopathy
Università degli Studi di Pavia
Dipartimento di Genetica e Microbiologia

ITALY

VENETO
PADOVA

SPAIN

Cataluña
BARCELONA

Funded by an IRDiRC memberSporadic inclusion body myositis: development of new cellular models for biomarkers identification and therapeutic strategies
Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS)
Laboratorio de investigación muscular y función mitocondrial

SWEDEN

Region Stockholm
ADDRESS: NOT PROVIDED - SE

SWEDEN

Region Stockholm
STOCKHOLM

Funded by an IRDiRC memberHistidyl tRNA synthetase – Connecting lungs to muscle inflammation
Karolinska Institutet - Solna
Department of Medicine

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

UNITED KINGDOM

Oxfordshire
OXFORD

Funded by an IRDiRC memberAdvanced peptide-oligonucleotide therapy for Myotonic Dystrophy Type 1
University of Oxford
Department of Physiology, Anatomy and Genetics

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMolecular mechanisms of myofibril assembly and function
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberRegulation of childhood growth
Institution: Information not provided - US

AUSTRIA

WIEN
WIEN

Molecular mechanisms of plectin-related muscular dystrophy
Medizinische Universität Wien
Zentrum für Anatomie und Zellbiologie

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

CURE-DM1: In vivo CRISPR/Cas9-mediated correction of triplet nucleotide repeat expansion in DM1
VUB_ Vrije Universiteit Brussel, Campus Jette
Department of Gene Therapy and Regenerative Medicine

BELGIUM

VLAAMS BRABANT
HEVERLEE (LEUVEN)

"3DMyoDM1": A novel human 3D in-vitro disease model for DM1
Laboratory of Bioengineering and Morphogenesis, KU Leuven
Laboratory of Bioengineering and Morphogenesis

CANADA

Ontario
HAMILTON

Funded by an IRDiRC memberRole of Xin, an actin-binding protein, in satellite cells and muscular dystrophies
McMaster University
Department of Pathology and Molecular Medicine

CANADA

Ontario
TORONTO

CANADA

Québec
ADDRESS: NOT PROVIDED - CA

CANADA

Québec
ADDRESS: NOT PROVIDED - CA

CANADA

Québec
JONQUIÈRE

Funded by an IRDiRC memberMotor, multisystemic and social participation assessment in myotonic dystrophy type 1 : a 9-year longitudinal study
CSSS - Centre de santé et de services sociaux de Jonquière
Centre de réadaptation Le Parcours

CYPRUS

Cyprus
ADDRESS: NOT PROVIDED - CY

Funded by an IRDiRC memberLNA/2'OMe mixmers against toxic CUG expanded RNA
Institution: Information not provided - CY

FINLAND

Finland
HELSINKI

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

Funded by an IRDiRC memberPrion protein dysfunction in inherited metabolic myopathies
Institution: Information not provided - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

Funded by an IRDiRC memberVenous thromboembolism in myotonic dystrophy type 1
Institution: Information not provided - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

Funded by an IRDiRC memberSELNAC: a first therapeutic trial for SEPN1-related myopathy
Institution: Information not provided - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

Funded by an IRDiRC memberBone morphogenetic proteins regulate patterning of limb muscles.
Institution: Information not provided - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
AUBIÈRE

Funded by an IRDiRC memberMolecular mechanisms of mtDNA maintenance in human health and disease
Laboratoire de Physique de Clermont
Health, Environment and Energy

FRANCE

AUVERGNE-RHONE-ALPES
PRAGUE

Funded by an IRDiRC memberPreclinical assessment of clinic ready agents for the treatment of muscular dystrophy and spinal muscular atrophy
Faculty of Medicine and University Hospital Motol
Department of Pediatrics

FRANCE

AUVERGNE-RHONE-ALPES
VILLEURBANNE

Peptidic aptamers as an approach to therapies targeting the mutations of the alpha-B-crystalline
Université Claude Bernard Lyon 1
Centre de Génétique et de Physiologie Moléculaire et Cellulaire

FRANCE

BRETAGNE
RENNES

Structure and function of dystrophin in relation with mutations / deletions in the human dystrophinopathies
Faculté de médecine de Rennes
Institut de Génétique et Développement de Rennes - UMR6290

FRANCE

GRAND-EST
ILLKIRCH-GRAFFENSTADEN

Funded by an IRDiRC memberPathophysiology and therapeutic proof-of-concepts for congenital myopathies
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Médecine translationnelle et neurogénétique

FRANCE

ILE-DE-FRANCE
EVRY

Funded by an IRDiRC memberFAT1 Signaling in skeletal muscle growth and repair: Muscle versus mesenchyme perspectives
AFM Téléthon - Association Française contre les Myopathies

FRANCE

ILE-DE-FRANCE
EVRY

FRANCE

ILE-DE-FRANCE
EVRY

Pathological modelling of Steinert Myotrophy using human embryonic stem cells carrying the causal mutation
GENOPOLE - Campus 1
I-Stem - Institut des cellules Souches pour le Traitement et l'Etude des maladies Monogéniques

FRANCE

ILE-DE-FRANCE
EVRY

FRANCE

ILE-DE-FRANCE
FONTENAY-AUX-ROSES

Funded by an IRDiRC memberFunctional analysis of separase-dependent lamins' regulation in AD-EDMD
Institut de biologie François Jacob
Laboratoire Réparation Et Vieillissement - LREV

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberDM1 disease mechanisms in the central nervous system: from brain cell-specific pathogenesis to misregulated glutamate homeostasis
Centre de Psychiatrie et Neurosciences
Neurobiologie du vieillissement normal et pathologique

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberGene therapy in DM1 cells by induction of a TALE Nuclease
Hôpital Necker-Enfants Malades
Service de Génétique Moléculaire

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberDM_Neuroglia : RNA toxicity and neuroglial miscommunication in myotonic dystrophy brains - FR
IMAGINE - Institut des Maladies Génétiques
Equipe "Triplets CTG instables et dystrophie myotonique"

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberHow to contract CAG.CTG repeats in myotonic dystrophy type 1
IMAGINE - Institut des Maladies Génétiques
Laboratoire "Triplets CTG instables et dystrophie myotonique"

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberGenetic and epigenetic control of adult muscle fiber phenotype
Institut Cochin (INSERM U 1016 - CNRS UMR 8104)
Equipe "Développement neuromusculaire, Génétique et Physiopathologie"

FRANCE

ILE-DE-FRANCE
PARIS

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberDynamin 2 expression modulation therapy
Institut de Myologie - Hôpital Pitié-Salpêtrière
Centre de Recherche en Myologie

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberASC-1, a novel actor in the pathophysiology of congenital muscle disorders
Institut de Myologie - Hôpital Pitié-Salpêtrière
Unité clinique de pathologie neuromusculaire

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberiDM-scope: the international French-Quebec myotonic dystrophy registry
Institut de Myologie - Hôpital Pitié-Salpêtrière
Unité clinique de pathologie neuromusculaire

FRANCE

ILE-DE-FRANCE
PARIS

Schwartz-Jampel syndrome and perlecan deficiency: test of new chemical therapeutic approaches on patients cells and study of physiopathological mechanisms in murine model
Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
Equipe "Bases moléculaires, physiopathologie et traitement des maladies neurodégénératives"

FRANCE

NOUVELLE AQUITAINE
BORDEAUX

Funded by an IRDiRC memberThe bacterial protein CNF1 as a novel strategy to counteract mitochondrial encephalomyopathies
CHU de Bordeaux-GH Pellegrin
Laboratoire Maladies Rares : Génétique et Métabolisme (MRGM)

FRANCE

OCCITANIE
MONTPELLIER

Effects of antioxidant supplementation in patients (Facio-scapulo-humeral dystrophy)
CHU de Montpellier - Hôpital Arnaud de Villeneuve
Département de Physiologie Clinique - Exploration métabolique

FRANCE

OCCITANIE
MONTPELLIER

FRANCE

OCCITANIE
MONTPELLIER

Funded by an IRDiRC memberFunctional Analyses and Phenotype-Genotype Correlation Studies in Patients Suspected of Titinopathy
IURC - Institut Universitaire de Recherche Clinique
Laboratoire de génétique moléculaire

FRANCE

OCCITANIE
MONTPELLIER

New therapeutic strategies development for oculopahryngeal muscular dystrophy using a drosophila model
Institut de Génétique Humaine (IGH)
Département Génétique et Développement

FRANCE

OCCITANIE
MONTPELLIER

Funded by an IRDiRC memberriboOPMD: Ribosomal and small non-coding RNAs in oculopharyngeal muscular dystrophy - FR
Institut de Génétique Humaine (IGH)
Département Génétique et Développement

FRANCE

OCCITANIE
TOULOUSE

Funded by an IRDiRC memberInfluence of mtDNA background (haplogroups) on mitochondrial pathologies.
Faculté de médecine de Toulouse
Equipe de "Médecine évolutive"

FRANCE

PAYS DE LA LOIRE
ANGERS

Funded by an IRDiRC memberAddressing Complex I deficiencies through drug screening
CHU d'Angers
UF de Biologie Moléculaire

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Funded by an IRDiRC memberCharacterization of the phenotypic variability in FSHD families for assisting clinical research
CHU de Marseille - Hôpital de la Timone
Service de Neurologie - Maladies neuromusculaires et SLA

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Funded by an IRDiRC memberFAT1 Signaling in skeletal muscle growth and repair: Muscle versus mesenchyme perspectives
IBDM - Institut de Biologie du Développement de Marseille
Développement et pathologies des circuits neuromusculaires

FRANCE

PROVENCE-ALPES-COTE D'AZUR
NICE

Funded by an IRDiRC memberFrench National Registry for FacioScapuloHumeral muscular Dystrophy (FSHD)
CHU de Nice - Hôpital Pasteur
Service Neurologie - Système Nerveux Périphérique et Muscles / Sclérose Latérale Amyotrophique

FRANCE

PROVENCE-ALPES-COTE D'AZUR
NICE

Funded by an IRDiRC memberResolve FSHD: clinical trial readiness to solve barriers to drug development in FSHD
CHU de Nice - Hôpital Pasteur
Service Neurologie - Système Nerveux Périphérique et Muscles / Sclérose Latérale Amyotrophique

FRANCE

PROVENCE-ALPES-COTE D'AZUR
NICE

Immuno-histochemical and molecular diagnosis of epidermolysis bullosa (COL17A1, PLEC1, LAMA3, LAMB3, LAMC2, COL7A1, ITGB4 and ITGA6 genes)
Faculté de médecine de Nice Sophia-Antipolis
Biologie et physiopathologie cutanée : expression génique, signalisation et thérapie

FRANCE

PROVENCE-ALPES-COTE D'AZUR
NICE

Funded by an IRDiRC memberDeciphering the role of the heterochromatin conformation in Emery Dreifuss Muscular Dystrophy (EDMD)
Institute for Research on Cancer and Aging
Department of Medical Genetics

GERMANY

Baden-Württemberg
HEIDELBERG

GERMANY

Bayern
ERLANGEN

Neuromuscular endplate pathology in autosomal dominant and recessive desminopathies
Universitätsklinikum Erlangen - Kopfkliniken
Neuropathologisches Institut

ISRAEL

ISRAEL
ADDRESS: NOT PROVIDED - IL

Funded by an IRDiRC memberZebrafish as a model system for GNE Myopathy
Institution: Information not provided - IL

ITALY

ABRUZZO
CHIETI SCALO

Funded by an IRDiRC memberCalsequestrins in calcium homeostasis and potential role in inherited human skeletal muscle diseases
Università degli Studi "G. D'Annunzio"
Dipartimento di Scienze Mediche Applicate e di Base

ITALY

EMILIA ROMAGNA
ADDRESS: NOT PROVIDED - IT

ITALY

LAZIO
ROMA

Funded by an IRDiRC memberAnalysis of the DM2 pathogenic mechanisms using Drosophila as model system
Sapienza Università di Roma - Dip. di Biologia e Biotecnologie Charles Darwin
Dipartimento di Biologia e Biotecnologie - Charles Darwin

ITALY

LOMBARDIA
MILANO

ITALY

LOMBARDIA
MILANO

Funded by an IRDiRC memberAn animal model to develop therapeutic strategies for Facioscapulohumeral Muscular Dystrophy (terminated)
IRCCS Ospedale San Raffaele
Fondazione Centro San Raffaele del Monte Tabor - Divisione di Medicina Rigenerativa Cellule Staminali e Terapia Genica (DMR)

ITALY

LOMBARDIA
MILANO

Funded by an IRDiRC memberModulation of the cyclin inhibitor p27 to ameliorate Merosin Deficient Congenital Muscular Dystrophy (MDC1A)
IRCCS Ospedale San Raffaele
Istituto di Neurologia Sperimentale - Unità di Ricerca Rigenerazione Neuromuscolare

ITALY

LOMBARDIA
MILANO

Funded by an IRDiRC memberDissecting the epigenetic features at the basis of Facioscapolohumeral Distrophy (terminated)
Università degli Studi di Milano - Biologia e Genetica per le Scienze Mediche
Dipartimento di Biologia e Genetica per le Scienze Mediche

ITALY

SICILIA
TROINA

JAPAN

JAPAN
OSAKA

Funded by an IRDiRC memberEvidence-generating clinical research for myotonic dystrophy
Osaka University Graduate School of Medicine
Department of Functional Diagnostic Science

NETHERLANDS

Zuid-Holland
LEIDEN

Funded by an IRDiRC memberRNA processing role in muscle degeneration opens therapeutical options for adult myopathies
LUMC - Leids Universitair Medisch Centrum
Afdeling Humane Genetica

SPAIN

Cataluña
BADALONA

Funded by an IRDiRC memberDIMINUTES, Childhood and adult myotonic dystrophy: evaluation of new treatments and pathogenicity through genetic, epigenetic and molecular imaging analysis
Fundació Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol
Unidad de Investigación Neuromuscular y Neuropediátrica

SPAIN

Cataluña
BARCELONA

Advanced gene editing technologies to restore LAMA2 on merosin-deficient congenital muscular dystrophy type 1A
Universitat Pompeu Fabra. Campus del Mar
Grupo de Biología Sintética Traslacional

SPAIN

Comunidad Valenciana
VALENCIA

Funded by an IRDiRC memberTherapeutic modulation of MBNL genes as innovative treatments for myotonic dystrophy
INCLIVA - Facultad de Medicina de la Universidad de Valencia
Grupo de investigación en genómica traslacional

SPAIN

Comunidad Valenciana
VALENCIA

Funded by an IRDiRC memberPreclinical development of an innovative drug for myotonic dystrophy
INCLIVA - Facultad de Medicina de la Universidad de Valencia
Grupo de investigación en genómica traslacional

SPAIN

Comunidad Valenciana
VALENCIA

Molecular mechanisms in the development of scoliosis in limb-girdle muscular dystrophies
Universitat de València. Facultat de Medicina i Odontologia
Departamento de Bioquímica y Biología Molecular

SWEDEN

Region Skåne
LUND

Laminins and Cib2 in congenital muscular dystrophy
Lund University
Department of Experimental Medical Science

SWEDEN

Region Stockholm
HUDDINGE

The functional organisation of the brain
Karolinska Institutet - Huddinge
Department of Clinical Neuroscience

SWEDEN

Region Stockholm
STOCKHOLM

Genetic and molecular mechanisms in familial visual impairment
Karolinska Institutet - Solna
Department of molecular medicine and surgery

SWEDEN

Region Västra Götaland
GÖTEBORG

UNITED KINGDOM

Greater London
LONDON

UNITED KINGDOM

Greater London
LONDON

Funded by an IRDiRC memberUnderstanding and Ameliorating Pathogenesis in FSHD
School of Biomedical sciences - King's College London
Randall Division of Cell and Molecular Biophysics

UNITED KINGDOM

Greater London
LONDON

Funded by an IRDiRC memberModelling FSHD as a tool for testing therapeutics
School of Biomedical sciences - King's College London
Randall Division of Cell and Molecular Biophysics

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

Funded by an IRDiRC memberMICA: Randomised, double-blinded, placebo-controlled, adaptive design trial of the efficacy of acipimox in patients with Mitochondrial Myopathy (AIMM)
Newcastle University Institute for Ageing (NUIA), Newcastle Biomedicine
Wellcome Trust Centre for Mitochondrial Research (Institute of Neuroscience)

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberJuvenile myositis
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberCell biology of metabolic disorders
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberInterventions in genetic counseling
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberGenetic and epigenetic mechamisms of fshd pathogenesis
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMuscle-specific regulation of pabpn1 expression
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMyonuclear homeostasis in craniofacial muscles
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberRna toxicity and muscle regeneration
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberRegulation of subcellular organization in skeletal muscle
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMechanisms of cognitive deficits in dystroglycanopathies
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberGenetic modifiers of fshd
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberAnimal models of fshd for therapy
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberBiomarker discovery in muscles from fshd patients
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberFshd disease biomarkers
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMammalian iron-sulfur cluster biogenesis
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMyogenesis studies for fshd biomarkers
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

AUSTRIA

WIEN
WIEN

Funded by an IRDiRC memberLong-Term Observational Study of Translarna Safety and Effectiveness in Usual Care - AT
Gottfried von Preyer'sches Kinderspital
Abteilung für Kinder- und Jugendheilkunde

AUSTRIA

WIEN
WIEN

Cardiac calcium channel abnormalities in Duchenne Muscular Dystrophy
Medizinische Universität Wien
Zentrum für Physiologie und Pharmakologie

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Funded by an IRDiRC memberNEXTGEN-AAV: Development of next-generation AAV vectors for Duchenne muscular dystrophy
VUB_ Vrije Universiteit Brussel, Campus Jette
Department of Gene Therapy and Regenerative Medicine

CANADA

Alberta
EDMONTON

CANADA

Ontario
OTTAWA

Funded by an IRDiRC memberGenetic Regulation of Myogenesis
Ottawa Hospital Research Institute
Sprott Center for Stem Cell Research

CANADA

Ontario
TORONTO

CANADA

Québec
ADDRESS: NOT PROVIDED - CA

Funded by an IRDiRC memberElucidation of Wnt7a mechanism of action for muscle regeneration
Institution: Information not provided - CA

CANADA

Québec
ADDRESS: NOT PROVIDED - CA

CANADA

Québec
ADDRESS: NOT PROVIDED - CA

CANADA

Québec
MONTRÉAL

Funded by an IRDiRC memberStrategies for therapy of respiratory muscle failure in muscular dystrophy
Meakins-Christie Laboratories
Meakins-Christie Labs

CANADA

Québec
QUÉBEC

Funded by an IRDiRC memberCorrection of the dystrophin gene with TAL effector nuclease and the CRISPR system
CHUQ - (CHUL) Centre hospitalier de l'Université Laval
Unité de Génétique humaine, Axe Neurosciences

CANADA

Québec
QUÉBEC

Funded by an IRDiRC memberCan laminin-111 be used to treat Duchenne Muscular Dystrophy alone or in combination with myoblast transplantation?
CHUQ - (CHUL) Centre hospitalier de l'Université Laval
Unité de Génétique humaine, Axe Neurosciences

CANADA

Québec
SHERBROOKE

Funded by an IRDiRC memberNOVEL STRATEGY FOR DIAGNOSIS OF POMPE PATIENTS USING NEXT GENERATION SEQUENCING TECHNOLOGIES
CIUSSS de l'Estrie - CHUS Fleurimont
Service de génétique médicale

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

Funded by an IRDiRC memberTranslational suppression of nonsense mutations found in DMD
Institution: Information not provided - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

GRAND-EST
STRASBOURG

Funded by an IRDiRC memberStudy of two neuromuscular diseases due to mutations in myotubularins MTM1 or MTMR2 by using yeast, cell lines and mice models
Génétique Moléculaire Génomique Microbiologie - GMGM
Trafic membranaire et signalisation lipidique

FRANCE

ILE-DE-FRANCE
EVRY

FRANCE

ILE-DE-FRANCE
GIF-SUR-YVETTE

Funded by an IRDiRC memberRescue_ribosome : Rescue Pathways for unrecycled ribosomes - FR
Institut de Biologie Intégrative de la Cellule (I2BC)
Département Biologie des Génomes

FRANCE

ILE-DE-FRANCE
GIF-SUR-YVETTE

Funded by an IRDiRC memberRestoration of Ca2+-signalling in mdx mice by targeting the endo-lysosmal two-pore channel (TPC)
Institut des Neuroscieces Paris-Saclay
Code neuronal & perception auditive

FRANCE

ILE-DE-FRANCE
PARIS

Analysis of cardiac phenotype and underlying genotype in glycogen storage disease type 2B
APHP.Sorbonne Université, Hôpital de la Pitié-Salpêtrière
Départements de génétique et de cardiologie - Centre de référence des maladies cardiaques héréditaires

FRANCE

ILE-DE-FRANCE
PARIS

Implementation of non-invasive prenatal diagnosis of rare and severe monogenic diseases
CHU Paris Centre - Hôpital Cochin, Site Cochin
Service de génétique et biologie moléculaires

FRANCE

ILE-DE-FRANCE
PARIS

Development of molecular therapies for glycogenosis type II (Pompe disease)
Faculté de médecine Paris-Descartes, Site Necker
Département "Biologie cellulaire" - Equipe "Contrôle de la croissance cellulaire par les nutriments"

FRANCE

ILE-DE-FRANCE
VERSAILLES

Funded by an IRDiRC memberElucidate the molecular mechanism leading to the generation of revertant dystrophin-positive fibers in muscle dystrophic DmdEGFP-mdx reporter mouse
Université de Versailles Saint-Quentin
Laboratoire Handicap neuromusculaire : Physiopathologue, Biotechnologies et Pharmacologies appliquées (END-ICAP) - UMR U1179

FRANCE

OCCITANIE
MONTPELLIER

Funded by an IRDiRC memberTowards a better understanding of the interplay between cis-acting elements and trans factors driving DMD pre-MRNA splicing
IURC - Institut Universitaire de Recherche Clinique
Laboratoire de génétique moléculaire

FRANCE

OCCITANIE
MONTPELLIER

Funded by an IRDiRC memberCardiac dysfunction in Duchenne Muscle Dystrophy children : pathophysiological role of type 2 ryanodine receptor through hiPSC-derived cardimyocytes
Université Montpellier II
Caractérisation de cardiomyocytes DMD et CPVT « patient-specific » dérivés de cellules souches pluripotentes induites

FRANCE

PAYS DE LA LOIRE
NANTES

Funded by an IRDiRC memberTOLGEN: In vivo AAV-based gene transfer to the muscle: Deciphering host immune responses - FR
IRS2 - Nantes Biotech
Thérapie Génique Translationnelle des Maladies Génétiques

FRANCE

PROVENCE-ALPES-COTE D'AZUR
NICE

Funded by an IRDiRC memberMitochondrial myopathies with mtDNA instability: the role of cristae maintenance
Faculté de médecine de Nice Sophia-Antipolis
IRCAN - Institut de Recherche sur le Cancer et le Vieillissement (INSERM U 1081 - CNRS UMR7284)

GERMANY

Berlin
BERLIN

Funded by an IRDiRC memberTAMDMD: Tamoxifen in Duchenne muscular dystrophy - a randomised placebo controlled phase 2 trial - DE
DRK Kliniken Berlin Westend
Klinik für Kinder- und Jugendmedizin

GERMANY

Saarland
HOMBURG

Visual impairment and blindness in multiple-handicapped children
Universitätsklinikum des Saarlandes
AG Kinder- & Neuroophthalmologie

ITALY

CAMPANIA
NAPOLI

Identification of novel therapeutic approaches to lysosomal disorders
TIGEM - Telethon Institute of Genetics and Medicine
Laboratorio di Ricerca

ITALY

EMILIA ROMAGNA
ADDRESS: NOT PROVIDED - IT

ITALY

EMILIA ROMAGNA
ADDRESS: NOT PROVIDED - IT

ITALY

EMILIA ROMAGNA
ADDRESS: NOT PROVIDED - IT

ITALY

EMILIA ROMAGNA
ADDRESS: NOT PROVIDED - IT

ITALY

EMILIA ROMAGNA
FERRARA

Funded by an IRDiRC memberMolecular pathology of ryanodine receptor mutants linked to central core disease and malignant hyperthermia (terminated)
Università degli Studi di Ferrara
Dipartimento di Medicina Sperimentale e Diagnostica

ITALY

LAZIO
ROMA

Funded by an IRDiRC memberExosome-mediated HDACi/miR-143/STAT3 network in the regulation of satellite cells expansion and muscle regeneration
IRCCS Fondazione Santa Lucia
Laboratorio di Epigenetica e Farmacologia Rigenerativa

ITALY

LAZIO
ROMA

Funded by an IRDiRC memberNew therapeutic strategies based on FAPs-derived Exosomes in the treatment of Duchenne Muscular Dystrophy
IRCCS Fondazione Santa Lucia
Laboratorio di Epigenetica e Farmacologia Rigenerativa

ITALY

LAZIO
ROMA

Funded by an IRDiRC memberRole of Dystrophin-associated protein complex (DPC) in intracellular signaling and trafficking pathways
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

ITALY

LIGURIA
GENOVA

Molecular characterization of metabolic-genetic diseases
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Centro di diagnostica genetica e biochimica delle malattie metaboliche

ITALY

LOMBARDIA
MILANO

Funded by an IRDiRC memberHMGB1 Redox Forms as New Targets in Duchenne Muscular Dystrophy
IRCCS Ospedale San Raffaele
Unit of Chromatin Dynamics - division of Genetics and Cell Biology

ITALY

VENETO
PADOVA

ITALY

VENETO
PADOVA

Funded by an IRDiRC memberTargeting mitochondria in myopathies with RyR1 and MICU1 mutations
Università degli Studi di Padova- Polo A.Vallisneri
Dipartimento di Scienze Biomediche

JAPAN

JAPAN
NAGANO

Funded by an IRDiRC memberResearch on natural history of Becker muscular dystrophy for establishment of preventive medicine
National Hospital Organization Matsumoto Medical Center
Department of Neurology

JAPAN

JAPAN
OKAYAMA

Funded by an IRDiRC memberResearch for practical application of an innovative peptide drug for DMD
Kawasaki Medical School
Department of Neurology

JAPAN

JAPAN
TOKYO

Funded by an IRDiRC memberDevelopment of a novel peptide-conjugated phosphorodiamidate morpholino therapy for Duchenne muscular dystrophy.
National Center of Neurology and Psychiatry
Department of Molecular Therapy

NETHERLANDS

Gelderland
NIJMEGEN

NETHERLANDS

Gelderland
NIJMEGEN

NETHERLANDS

Zuid-Holland
LEIDEN

PORTUGAL

CENTRO
ADDRESS: NOT PROVIDED - PT

SPAIN

Andalucía
GRANADA

Funded by an IRDiRC memberDevelopment of a strategy of cell-gene therapy for treatment of Pompe disease
GENYO - Genómica e Investigación Oncológica
Laboratorio de Terapia Génica y Celular

SPAIN

Andalucía
GRANADA

Funded by an IRDiRC memberOptimization of genomic editing for its application to gene therapy of monogenic diseases
GENYO - Genómica e Investigación Oncológica
Laboratorio de Terapia Génica y Celular

SPAIN

Cataluña
BARCELONA

Characterization of the role of fibroadipogenic precursors in the degenerative process of muscular dystrophies
Hospital de la Santa Creu i Sant Pau
Unidad funcional de enfermedades autoinmunitarias sistémicas

SPAIN

Cataluña
BARCELONA

Genotyping and proteomic, metabolomic and functional phenotyping in Kearns-Sayre syndrome for the identification of new biomarkers and options
Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS)
Laboratorio de investigación muscular y función mitocondrial

SPAIN

Cataluña
BARCELONA

New pharmacological approach for treatment of McArdle's disease and other minor glycogenosis and update of European patient registry "EUROMAC"
Vall d'Hebron Institut de Recerca VHIR
Grupo de investigación en patología neuromuscular y mitocondrial

SPAIN

Madrid
MADRID

Funded by an IRDiRC memberNext generation sequencing for diagnosis of hemolytic anemia
Hospital Clínico San Carlos
Laboratorio de Hemoglobinopatías y Talasemias

SPAIN

Madrid
MADRID

Funded by an IRDiRC memberMcArdle disease: 2D/3D therapeutic approaches based on the use of iPSCs
Instituto de Investigación Hospital 12 de Octubre
Grupo de Investigación Traslacional con Células iPS

SPAIN

Madrid
MADRID

Funded by an IRDiRC memberTherapeutic innovation in McArdle's disease: myophosphorylase replacement therapy using liposomal vehicles
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en enfermedades raras, mitocondriales y neuromusculares

SPAIN

País Vasco
SAN SEBASTIÁN

Funded by an IRDiRC memberTherapeutic potential of Ahulken compounds against cognitive and muscle deficits in Duchenne muscular dystrophy
Instituto de Investigación Sanitaria Biodonostia
Área de Neurociencias

UNITED KINGDOM

Cambridgeshire
ST NEOTS

UNITED KINGDOM

Greater London
LONDON

UNITED KINGDOM

Oxfordshire
OXFORD

Funded by an IRDiRC memberMICA: The role of utrophin in DMD and its therapeutic potential
University of Oxford
Department of Physiology, Anatomy and Genetics

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberSTAT3 signaling network in MuSCs as therapeutic target for DMD
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberWhole body single aav microgene therapy in canine dmd
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberTherapeutics for rare and neglected diseases - science
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberGene therapy platform for rare diseases
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMicrotubule regulated mechanotransduction in skeletal muscle
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMuscle tregs in health and disease
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberSarcolipin in duchenne muscular dystrophy
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberBioinformatics and genomics
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberGenetic metabolic myopathy - acid maltase deficiency
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberHighthroughput screening and cell repository
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberOptimization of ao drugs 45; 51 & 53
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberBiomarker discovery for ao accumulation in kidney
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberClinical evaluation of urine biomarkers for morpholino
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberPreclinical dosing optimization: dosing schedule; tissue
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberStrategies to overcome immunity in gene therapy of dmd
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMitochondrial encephalomyopathies and mental retardation
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberPathogenic mechanisms and therapuetic strategies in melas
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberTherapeutic approaches in cell models of mitochondrial diseases
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMitochondrial encephalomyopathies: approaches to treatment
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

AUSTRIA

WIEN
ADDRESS: NOT PROVIDED - AT

ABHD5 and PNPLA1 Function in the Skin
Institution: Information not provided - AT

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

Funded by an IRDiRC memberRole of annexins in membrane repair of human skeletal muscle
Institution: Information not provided - FR

FRANCE

ILE-DE-FRANCE
EVRY

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberRole of LRRFIP2 in the control of heart development and skeletal muscle regeneration
Institut Cochin (INSERM U 1016 - CNRS UMR 8104)
Equipe "Développement neuromusculaire, Génétique et Physiopathologie"

ITALY

LIGURIA
GENOVA

Funded by an IRDiRC memberExtracellular ATP and T regulatory cells: new therapeutics targets in alpha-sarcoglycan deficient muscular dystrophy (LGMD2D)
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
U.O.C. Neurologia pediatrica e Malattie muscolari

JAPAN

JAPAN
HYOGO

Funded by an IRDiRC memberDevelopment ofa new molecular targeted therapy for Fukuyama muscular dystrophy
Kobe University Graduate School of Medicine
Department of Pediatrics

JAPAN

JAPAN
OSAKA

Funded by an IRDiRC memberDevelopment of a novel drug including medium chain faty acids for triglyceride deposit cardiomyovasculpathy
Osaka University Graduate School of Medicine
Department of Cardiovascular Medicine

NORWAY

Nord-Norge
TROMSØ

Pathophysiological mechanisms with Limb Girdle muscular dystrophy Type 21
UNN - Universitetssykehuset Nord-Norge
NMK - Nevromuskulært kompetansesenter

NORWAY

Nord-Norge
TROMSØ

Limb-Girdle Muscular Dystrophy in Norway, a cohort study
UNN - Universitetssykehuset Nord-Norge
NMK - Nevromuskulært kompetansesenter

SPAIN

País Vasco
SAN SEBASTIÁN

UNITED KINGDOM

Tyne & Wear
NEWCASTLE-UPON-TYNE

Defining Clinical Endpoints in Limb Girdle Muscular Dystrophy (LGMD) (GRASP)
Newcastle University
Newcastle Clinical Trials Unit

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberTherapeutics for the chorioretina
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberThe sarcoglycan complex in skeletal muscle mechanotransduction
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberThe role of dystroglycan in neural circuit development.
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Multicentric Research projects