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393 Resultado(s)

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Financiado por um membro do IRDiRC =

Projetos de investigação

ESPANHA

Madrid
MADRID

JAPAO

JAPAN
TOKYO

Financiado por um membro do IRDiRCEstablishment of Integrated Genome Analysis Center for Hereditary Muscle Disease
National Center of Neurology and Psychiatry
Department of Neuromuscular Research

ALEMANHA

Baden-Württemberg
FREIBURG

SMArtCARE : Clinical evaluation and monitoring of patients with spinal muscular atrophy
Zentrum für Kinder- und Jugendmedizin Freiburg
Klinik für Neuropädiatrie und Muskelerkrankungen

ALEMANHA

Baden-Württemberg
KONSTANZ

ALEMANHA

Nordrhein-Westfalen
KÖLN

The power of protective modifier NCALD to develop an efficient combinatorial therapy for spinal muscular atrophy
Institut für Humangenetik am Universitätsklinikum Köln
Institut für Humangenetik

BELGICA

ANTWERPEN
ANTWERPEN

CANADA

Alberta
CALGARY

Financiado por um membro do IRDiRCIdentifying Cellular and Molecular Modifiers of Muscular Dystrophy
University of Calgary
Department of Biochemistry and Molecular Biology

CANADA

Ontario
OTTAWA

CANADA

Ontario
OTTAWA

Financiado por um membro do IRDiRCThe molecular pathogenesis of spinal muscular atrophy
Ottawa Hospital Research Institute
Regenerative Medicine

CANADA

Ontario
OTTAWA

Financiado por um membro do IRDiRCDifferential role of myogenic regulatory factors in establishing muscle-specific gene expression
Ottawa Hospital Research Institute
Sprott Center for Stem Cell Research

CANADA

Ontario
OTTAWA

Financiado por um membro do IRDiRCSatellite 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

Financiado por um membro do IRDiRCSIX family transcription factors in adult muscle regeneration.
University of Ottawa
Faculty of Medicine -

CANADA

Ontario
OTTAWA, ONTARIO

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCMolecular mediators of the spinal muscular atrophy NMJ phenotype
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCAn orally bioavailable drug candidate for spinal muscular atrophy
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCTargeting a smn lncrna for the treatment of sma
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCSurvival motor neuron (smn) function in motoneuron development
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCProtein-mediated membrane remodeling
Institution: Information not provided - US

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCA

ILE-DE-FRANCE
EVRY

Financiado por um membro do IRDiRCWhite adipose tissue: a stem/stromal cell provider involved in muscle regeneration?
AFM Téléthon - Association Française contre les Myopathies

FRANCA

ILE-DE-FRANCE
PARIS

Financiado por um membro do IRDiRCDeciphering respective contributions of macrophages and microglia to motor neuron degeneration in Spinal Muscular Atrophy and Amyotrophic Lateral Sclerosis with microfluidic devices
Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
Equipe "Causes de la SLA et mécanismes de la dégénérescence motoneuronale"

FRANCA

ILE-DE-FRANCE
PARIS

Financiado por um membro do IRDiRCPathophysiology of congenital muscle weakness linked to abnormal neuromuscular excitability
Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
Institut du Cerveau et de la Moëlle épinière - INSERM U1127

FRANCA

ILE-DE-FRANCE
PARIS

Financiado por um membro do IRDiRCSTaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy - FR
Muséum National d'Histoire Naturelle
Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196

FRANCA

OCCITANIE
MONTPELLIER

Financiado por um membro do IRDiRCGenome-wide profiling of nuclear-body associated regions: relation to cellular physiopathology of the spinal muscular atrophy disease
UMR5535 Institut de génétique moléculaire de Montpellier (IGMM)
Architecture Génomique et Contrôle Epigénétique

FRANCA

OCCITANIE
MONTPELLIER

Financiado por um membro do IRDiRCDefining new functions for the SMN complex from yeast to human
UMR5535 Institut de génétique moléculaire de Montpellier (IGMM)
Assemblage et Trafic de Ribonucléoprotéines

FRANCA

OCCITANIE
TOULOUSE

Financiado por um membro do IRDiRCIntermuscular adipose tissue as a trigger of muscle wasting?
Institut des Maladies Métaboliques et Cardiovasculaires
Laboratoire de recherche sur les obésités

FRANCA

PAYS DE LA LOIRE
NANTES

Financiado por um membro do IRDiRCFROGH : FRench Regional Origins in Genetics for Health - FR
Institut de Recherche en Santé - Université de Nantes
L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291

FRANCA

PROVENCE-ALPES-COTE D'AZUR
NICE

Financiado por um membro do IRDiRCIn vivo and in vitro direct lineage reprogramming of neuronal and somatic cells to corticospinal motor neurons
Université de Nice Sophia-Antipolis - Faculté des sciences
iBV - Institut de Biologie Valrose

FRANCA

PROVENCE-ALPES-COTE D'AZUR
VALBONNE

Financiado por um membro do IRDiRCDeveloping combinatorial therapies for the treatment of spinal muscular atrophy
IPMC - Institut de Pharmacologie Moléculaire et Cellulaire
Physiopathologie des canaux Na+ et de l'excitabilité neuronale

ITALIA

CAMPANIA
NAPOLI

Financiado por um membro do IRDiRCIdentification of new druggable targets and potential therapeutic compounds for Spinal Muscular Atrophy, using a C.elegans model of neurodegeneration
Istituto di Genetica e Biofisica "Adriano Buzzati Traverso" - CNR
Genetica Molecolare dei Nematodi

ITALIA

EMILIA ROMAGNA
ADDRESS: NOT PROVIDED - IT

ITALIA

LAZIO
ROMA

ITALIA

LAZIO
ROMA

ITALIA

LOMBARDIA
MILANO

Genetic correction of human induced pluripotent stem cells from patients with proximal spinal muscular atrophy
Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico
Dipartimento di Scienze Neurologiche

JAPAO

JAPAN
AICHI

JAPAO

JAPAN
TOKYO

Financiado por um membro do IRDiRCFormation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute

PORTUGAL

NORTE
PORTO

Qual o papel da adenosina na disfunção de ambas as sinapses neuromusculares e imunológicas nos síndromes miasténicos?
Instituto de Ciências Biomédicas Abel Salazar
Unidade Multidisciplinar de Investigação Biomédica

REINO UNIDO

Greater Manchester
ADDRESS: NOT PROVIDED - UK

ALEMANHA

Berlin
BERLIN

Financiado por um membro do IRDiRCTAMDMD: Tamoxifen in Duchenne muscular dystrophy - a randomised placebo controlled phase 2 trial - DE
DRK Kliniken Berlin Westend
Klinik für Kinder- und Jugendmedizin

ALEMANHA

Schleswig-Holstein
KIEL

Role of microRNA-582 in cardiac signal transduction, hypertrophy and heart failure
Universitätsklinikum Schleswig-Holstein - Campus Kiel
Klinik für Innere Medizin III - Kardiologie und Angiologie

AUSTRIA

WIEN
WIEN

Financiado por um membro do IRDiRCLong-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

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

AUSTRIA

WIEN
WIEN

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

BELGICA

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Financiado por um membro do IRDiRCNEXTGEN-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

Financiado por um membro do IRDiRCGenetic Regulation of Myogenesis
Ottawa Hospital Research Institute
Sprott Center for Stem Cell Research

CANADA

Ontario
OTTAWA, ONTARIO

CANADA

Ontario
TORONTO

CANADA

Québec
ADDRESS: NOT PROVIDED - CA

Financiado por um membro do IRDiRCElucidation 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

Financiado por um membro do IRDiRCStrategies for therapy of respiratory muscle failure in muscular dystrophy
Meakins-Christie Laboratories
Meakins-Christie Labs

CANADA

Québec
QUÉBEC

Financiado por um membro do IRDiRCCorrection 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

Financiado por um membro do IRDiRCCan 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

ESPANHA

Cataluña
BARCELONA

Innate immunity activation in dysferline-deficient cells: new therapeutic targets
Hospital de la Santa Creu i Sant Pau
Unidad de Enfermedades Neuromusculares

ESPANHA

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

ESPANHA

Cataluña
ESPLUGUES DE LLOBREGAT

New therapeutic approach for Ullrich and Bethlem myopathies based on edition of dominant mutations of collagen VI
Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu
Grupo de Investigación aplicada en enfermedades neuromusculares

ESPANHA

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

ESPANHA

País Vasco
SAN SEBASTIÁN

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCSTAT3 signaling network in MuSCs as therapeutic target for DMD
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCWhole body single aav microgene therapy in canine dmd
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCTherapeutics for rare and neglected diseases - science
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCGene therapy platform for rare diseases
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCCell biology of metabolic disorders
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCMicrotubule regulated mechanotransduction in skeletal muscle
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCMuscle tregs in health and disease
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCSarcolipin in duchenne muscular dystrophy
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCBioinformatics and genomics
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCHighthroughput screening and cell repository
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCMolecular mechanisms of myofibril assembly and function
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCOptimization of ao drugs 45; 51 & 53
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCBiomarker discovery for ao accumulation in kidney
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCClinical evaluation of urine biomarkers for morpholino
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCPreclinical dosing optimization: dosing schedule; tissue
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCStrategies to overcome immunity in gene therapy of dmd
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

Financiado por um membro do IRDiRCTranslational suppression of nonsense mutations found in DMD
Institution: Information not provided - FR

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

Financiado por um membro do IRDiRCRole of annexins in membrane repair of human skeletal muscle
Institution: Information not provided - FR

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

Financiado por um membro do IRDiRCRegulation and morphogenesis of cranial muscle derivatives
Institution: Information not provided - FR

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

Financiado por um membro do IRDiRCSELNAC: a first therapeutic trial for SEPN1-related myopathy
Institution: Information not provided - FR

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCA

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND

FRANCA

GRAND-EST
ILLKIRCH-GRAFFENSTADEN

Financiado por um membro do IRDiRCPhysiopathology of muscle atrophy in myotonic dystrophy
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Médecine translationnelle et neurogénétique

FRANCA

GRAND-EST
STRASBOURG

Financiado por um membro do IRDiRCStudy 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

FRANCA

ILE-DE-FRANCE
CRÉTEIL

Financiado por um membro do IRDiRCiDM-scope: the international French-Quebec myotonic dystrophy registry
CHU Henri Mondor
Centre expert de maladie neuro-musculaire

FRANCA

ILE-DE-FRANCE
EVRY

FRANCA

ILE-DE-FRANCE
GIF-SUR-YVETTE

Financiado por um membro do IRDiRCRescue_ribosome : Rescue Pathways for unrecycled ribosomes - FR
Institut de Biologie Intégrative de la Cellule (I2BC)
Département Biologie des Génomes

FRANCA

ILE-DE-FRANCE
GIF-SUR-YVETTE

Financiado por um membro do IRDiRCRestoration of Ca2+-signalling in mdx mice by targeting the endo-lysosmal two-pore channel (TPC)
Institut des Neuroscieces Paris-Saclay
Code neuronal & perception auditive

FRANCA

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

FRANCA

ILE-DE-FRANCE
PARIS

Financiado por um membro do IRDiRCTreatment 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

FRANCA

ILE-DE-FRANCE
PARIS

Financiado por um membro do IRDiRCRole 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"

FRANCA

ILE-DE-FRANCE
PARIS

FRANCA

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"

FRANCA

ILE-DE-FRANCE
PARIS

Financiado por um membro do IRDiRCMuSK intracellular pathways in congenital myasthenic syndromes
Université Paris Descartes - Paris 5
Centre de Neurophysique, Physiologie et Pathologie - CNRS UMR 8119

FRANCA

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

FRANCA

ILE-DE-FRANCE
PARIS

Financiado por um membro do IRDiRCCardiac 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

FRANCA

ILE-DE-FRANCE
VERSAILLES

Financiado por um membro do IRDiRCElucidate 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

FRANCA

OCCITANIE
MONTPELLIER

Financiado por um membro do IRDiRCFunctional Analyses and Phenotype-Genotype Correlation Studies in Patients Suspected of Titinopathy
IURC - Institut Universitaire de Recherche Clinique
Laboratoire de génétique moléculaire

FRANCA

OCCITANIE
MONTPELLIER

Financiado por um membro do IRDiRCTowards 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

FRANCA

OCCITANIE
MONTPELLIER

Financiado por um membro do IRDiRCCardiac 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

FRANCA

PAYS DE LA LOIRE
NANTES

Financiado por um membro do IRDiRCTOLGEN: In vivo AAV-based gene transfer to the muscle: Deciphering host immune responses - FR
IRS2 - Nantes Biotech
Thérapie Génique Translationnelle des Maladies Génétiques

FRANCA

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

FRANCA

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

ISRAEL

ISRAEL
ADDRESS: NOT PROVIDED - IL

Financiado por um membro do IRDiRCZebrafish as a model system for GNE Myopathy
Institution: Information not provided - IL

ITALIA

ABRUZZO
CHIETI SCALO

Financiado por um membro do IRDiRCCalsequestrins 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

ITALIA

EMILIA ROMAGNA
ADDRESS: NOT PROVIDED - IT

Financiado por um membro do IRDiRCEstablishing new models for primary dystroglycanopathies
Institution: Information not provided - IT

ITALIA

EMILIA ROMAGNA
ADDRESS: NOT PROVIDED - IT

ITALIA

EMILIA ROMAGNA
ADDRESS: NOT PROVIDED - IT

ITALIA

EMILIA ROMAGNA
ADDRESS: NOT PROVIDED - IT

ITALIA

EMILIA ROMAGNA
FERRARA

Financiado por um membro do IRDiRCMolecular 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

ITALIA

LAZIO
ROMA

Financiado por um membro do IRDiRCExosome-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

ITALIA

LAZIO
ROMA

Financiado por um membro do IRDiRCNew therapeutic strategies based on FAPs-derived Exosomes in the treatment of Duchenne Muscular Dystrophy
IRCCS Fondazione Santa Lucia
Laboratorio di Epigenetica e Farmacologia Rigenerativa

ITALIA

LAZIO
ROMA

Financiado por um membro do IRDiRCRole of Dystrophin-associated protein complex (DPC) in intracellular signaling and trafficking pathways
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

ITALIA

LAZIO
ROMA

Financiado por um membro do IRDiRCThe RAMYD (risk of arrhythmias in Myotonc Dystrophy Type I) study: phase II
Università Cattolica del Sacro Cuore
Istituto di Anatomia Umana e Biologia Cellulare

ITALIA

LOMBARDIA
MILANO

Financiado por um membro do IRDiRCHMGB1 Redox Forms as New Targets in Duchenne Muscular Dystrophy
IRCCS Ospedale San Raffaele
Unit of Chromatin Dynamics - division of Genetics and Cell Biology

ITALIA

LOMBARDIA
MILANO

Financiado por um membro do IRDiRCModulation 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

ITALIA

LOMBARDIA
PAVIA

Novel therapeutic strategies for Spinal Muscular Atrophy: testing the efficacy of cell-permeable peptides in preclinical models
Fondazione Salvatore Maugeri
Laboratorio di Ricerca sulle malattie Neurodegenerative

ITALIA

LOMBARDIA
PAVIA

Financiado por um membro do IRDiRCClinical morphological and molecular study of italian patients with congenital myopathy
Università degli Studi di Pavia
Dipartimento di Genetica e Microbiologia

ITALIA

SICILIA
TROINA

ITALIA

VENETO
PADOVA

ITALIA

VENETO
PADOVA

ITALIA

VENETO
PADOVA

Financiado por um membro do IRDiRCTargeting mitochondria in myopathies with RyR1 and MICU1 mutations
Università degli Studi di Padova- Polo A.Vallisneri
Dipartimento di Scienze Biomediche

JAPAO

JAPAN
NAGANO

Financiado por um membro do IRDiRCResearch on natural history of Becker muscular dystrophy for establishment of preventive medicine
National Hospital Organization Matsumoto Medical Center
Department of Neurology

JAPAO

JAPAN
OKAYAMA

Financiado por um membro do IRDiRCResearch for practical application of an innovative peptide drug for DMD
Kawasaki Medical School
Department of Neurology

JAPAO

JAPAN
OSAKA

Financiado por um membro do IRDiRCInvestigation of clinical index for stratifying phenotypes of cardiomyopathy with newly developed nuclear chromatin assessment
Osaka University Graduate School of Medicine
Department of Cardiovascular Medicine

JAPAO

JAPAN
TOKYO

Financiado por um membro do IRDiRCDevelopment of a novel peptide-conjugated phosphorodiamidate morpholino therapy for Duchenne muscular dystrophy.
National Center of Neurology and Psychiatry
Department of Molecular Therapy

PAISES BAIXOS

Gelderland
NIJMEGEN

PAISES BAIXOS

Gelderland
NIJMEGEN

PAISES BAIXOS

Zuid-Holland
LEIDEN

REINO UNIDO

Oxfordshire
OXFORD

Financiado por um membro do IRDiRCMICA: The role of utrophin in DMD and its therapeutic potential
University of Oxford
Department of Physiology, Anatomy and Genetics

REINO UNIDO

Oxfordshire
OXFORD

Financiado por um membro do IRDiRCAdvanced peptide-oligonucleotide therapy for Myotonic Dystrophy Type 1
University of Oxford
Department of Physiology, Anatomy and Genetics

REINO UNIDO

Tyne & Wear
NEWCASTLE UPON TYNE

SUECIA

Skane
LUND

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

ALEMANHA

Baden-Württemberg
HEIDELBERG

ALEMANHA

Bayern
ERLANGEN

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

BELGICA

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

BELGICA

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

Financiado por um membro do IRDiRCRole of Xin, an actin-binding protein, in satellite cells and muscular dystrophies
McMaster University
Department of Pathology and Molecular Medicine

CANADA

Québec
ADDRESS: NOT PROVIDED - CA

CANADA

Québec
ADDRESS: NOT PROVIDED - CA

CANADA

Québec
JONQUIÈRE

Financiado por um membro do IRDiRCMotor, 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

CHIPRE

Cyprus
ADDRESS: NOT PROVIDED - CY

Financiado por um membro do IRDiRCLNA/2'OMe mixmers against toxic CUG expanded RNA
Institution: Information not provided - CY

ESPANHA

Cataluña
BADALONA

Financiado por um membro do IRDiRCDIMINUTES, 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

ESPANHA

Comunidad Valenciana
VALENCIA

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCCellular and molecular studies of sbma neuromuscular disease
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCInterventions in genetic counseling
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCGenetic and epigenetic mechamisms of fshd pathogenesis
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCMuscle-specific regulation of pabpn1 expression
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCMyonuclear homeostasis in craniofacial muscles
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCRna toxicity and muscle regeneration
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCThe sarcoglycan complex in skeletal muscle mechanotransduction
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCRegulation of subcellular organization in skeletal muscle
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCThe role of dystroglycan in neural circuit development.
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCMechanisms of cognitive deficits in dystroglycanopathies
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCGenetic modifiers of fshd
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCAnimal models of fshd for therapy
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCBiomarker discovery in muscles from fshd patients
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCFshd disease biomarkers
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCMammalian iron-sulfur cluster biogenesis
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCMyogenesis studies for fshd biomarkers
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

Financiado por um membro do IRDiRCPrion protein dysfunction in inherited metabolic myopathies
Institution: Information not provided - FR

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

Financiado por um membro do IRDiRCVenous thromboembolism in myotonic dystrophy type 1
Institution: Information not provided - FR

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

Financiado por um membro do IRDiRCBone morphogenetic proteins regulate patterning of limb muscles.
Institution: Information not provided - FR

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCA

AUVERGNE-RHONE-ALPES
AUBIÈRE

Financiado por um membro do IRDiRCMolecular mechanisms of mtDNA maintenance in human health and disease
Laboratoire de Physique de Clermont
Health, Environment and Energy

FRANCA

AUVERGNE-RHONE-ALPES
PRAGUE

Financiado por um membro do IRDiRCPreclinical 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

FRANCA

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

FRANCA

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

FRANCA

GRAND-EST
ILLKIRCH-GRAFFENSTADEN

Financiado por um membro do IRDiRCPathophysiology and therapeutic proof-of-concepts for congenital myopathies
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Médecine translationnelle et neurogénétique

FRANCA

ILE-DE-FRANCE
EVRY

Financiado por um membro do IRDiRCFAT1 Signaling in skeletal muscle growth and repair: Muscle versus mesenchyme perspectives
AFM Téléthon - Association Française contre les Myopathies

FRANCA

ILE-DE-FRANCE
EVRY

FRANCA

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

FRANCA

ILE-DE-FRANCE
EVRY

FRANCA

ILE-DE-FRANCE
EVRY

FRANCA

ILE-DE-FRANCE
FONTENAY-AUX-ROSES

Financiado por um membro do IRDiRCFunctional analysis of separase-dependent lamins' regulation in AD-EDMD
Institut de biologie François Jacob
Laboratoire Réparation Et Vieillissement - LREV

FRANCA

ILE-DE-FRANCE
PARIS

Financiado por um membro do IRDiRCDM1 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

FRANCA

ILE-DE-FRANCE
PARIS

Financiado por um membro do IRDiRCGene therapy in DM1 cells by induction of a TALE Nuclease
Hôpital Necker-Enfants Malades
Service de Génétique Moléculaire

FRANCA

ILE-DE-FRANCE
PARIS

Financiado por um membro do IRDiRCDM_Neuroglia : RNA toxicity and neuroglial miscommunication in myotonic dystrophy brains - FR
IMAGINE - Institut des Maladies Génétiques
Equipe "Triplets CTG instables et dystrophie myotonique"

FRANCA

ILE-DE-FRANCE
PARIS

Financiado por um membro do IRDiRCHow to contract CAG.CTG repeats in myotonic dystrophy type 1
IMAGINE - Institut des Maladies Génétiques
Laboratoire "Triplets CTG instables et dystrophie myotonique"

FRANCA

ILE-DE-FRANCE
PARIS

Financiado por um membro do IRDiRCGenetic and epigenetic control of adult muscle fiber phenotype
Institut Cochin (INSERM U 1016 - CNRS UMR 8104)
Equipe "Développement neuromusculaire, Génétique et Physiopathologie"

FRANCA

ILE-DE-FRANCE
PARIS

FRANCA

ILE-DE-FRANCE
PARIS

Financiado por um membro do IRDiRCASC-1, a novel actor in the pathophysiology of congenital muscle disorders
Institut de Myologie - Hôpital Pitié-Salpêtrière
Unité clinique de pathologie neuromusculaire

FRANCA

NOUVELLE AQUITAINE
BORDEAUX

Financiado por um membro do IRDiRCThe bacterial protein CNF1 as a novel strategy to counteract mitochondrial encephalomyopathies
CHU de Bordeaux-GH Pellegrin
Laboratoire Maladies Rares : Génétique et Métabolisme (MRGM)

FRANCA

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

FRANCA

OCCITANIE
MONTPELLIER

FRANCA

OCCITANIE
MONTPELLIER

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

FRANCA

OCCITANIE
MONTPELLIER

Financiado por um membro do IRDiRCriboOPMD: Ribosomal and small non-coding RNAs in oculopharyngeal muscular dystrophy - FR
Institut de Génétique Humaine (IGH)
Département Génétique et Développement

FRANCA

OCCITANIE
TOULOUSE

Financiado por um membro do IRDiRCInfluence of mtDNA background (haplogroups) on mitochondrial pathologies.
Faculté de médecine de Toulouse
Equipe de "Médecine évolutive"

FRANCA

PAYS DE LA LOIRE
ANGERS

Financiado por um membro do IRDiRCAddressing Complex I deficiencies through drug screening
CHU d'Angers
UF de Biologie Moléculaire

FRANCA

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Financiado por um membro do IRDiRCCharacterization 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

FRANCA

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Financiado por um membro do IRDiRCFAT1 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

FRANCA

PROVENCE-ALPES-COTE D'AZUR
NICE

Financiado por um membro do IRDiRCFrench National Registry for FacioScapuloHumeral muscular Dystrophy (FSHD)
CHU de Nice - Hôpital Pasteur
Service Neurologie - Système Nerveux Périphérique et Muscles / Sclérose Latérale Amyotrophique

FRANCA

PROVENCE-ALPES-COTE D'AZUR
NICE

Financiado por um membro do IRDiRCResolve 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

FRANCA

PROVENCE-ALPES-COTE D'AZUR
NICE

Financiado por um membro do IRDiRCDeciphering the role of the heterochromatin conformation in Emery Dreifuss Muscular Dystrophy (EDMD)
Institute for Research on Cancer and Aging
Department of Medical Genetics

ITALIA

EMILIA ROMAGNA
ADDRESS: NOT PROVIDED - IT

ITALIA

LAZIO
ROMA

Financiado por um membro do IRDiRCClinical efficacy of NIV and modafinil on excessive daytime sleepiness: a multicenter, randomized, double-blind, placebo-controlled clinical trial in DM1
A.O.U. Policlinico di Tor Vergata - Facoltà di Medicina e Chirurgia
Dipartimento di Medicina dei Sistemi

ITALIA

LAZIO
ROMA

Financiado por um membro do IRDiRCMuscular RNA and transcriptome analysis as a tool for the identification of biomarkers in spinal muscular atrophy
Policlinico Umberto I
Dipartimento di Biotecnologie Cellulari ed Ematologia

ITALIA

LAZIO
ROMA

Financiado por um membro do IRDiRCAnalysis 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

ITALIA

LIGURIA
GENOVA

Financiado por um membro do IRDiRCExtracellular 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

ITALIA

LOMBARDIA
MILANO

Financiado por um membro do IRDiRCClinical efficacy of NIV and modafinil on excessive daytime sleepiness: a multicenter, randomized, double-blind, placebo-controlled clinical trial in DM1
ASST Grande Ospedale Metropolitano Niguarda
Centro Clinico Nemo - sede di Milano - Centro ad alta specializzazione per le malattie neuromuscolari

ITALIA

LOMBARDIA
MILANO

ITALIA

LOMBARDIA
MILANO

Financiado por um membro do IRDiRCAn 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)

ITALIA

LOMBARDIA
MILANO

Financiado por um membro do IRDiRCDissecting 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

ITALIA

LOMBARDIA
MILANO

Financiado por um membro do IRDiRCMotoneuron degeneration in spinal and bulbar muscular atrophy: from the molecular mechanisms to the potential therapeutical approaches (terminated)
Università degli Studi di Milano - Scienze Farmacologiche e Biomolecolari
Centro di Eccellenza per le Malattie Neurodegenerative

JAPAO

JAPAN
AICHI

Financiado por um membro do IRDiRCDrug discovery for spinal-bulbar muscular atrophy using disease specific iPSCs
Aichi Medical University School of Medicine
Department of Neurology

JAPAO

JAPAN
AICHI

Financiado por um membro do IRDiRCEstablishment of appropriate treatment for spinal and bulbar muscular atrophy
Nagoya University Graduate School of Medicine
Department of Neurology

JAPAO

JAPAN
AICHI

Financiado por um membro do IRDiRCInnovative therapy development for neuro-muscular degeneration in spinal and bulbar muscular atrophy
Nagoya University Graduate School of Medicine
Department of Neurology

JAPAO

JAPAN
OSAKA

Financiado por um membro do IRDiRCEvidence-generating clinical research for myotonic dystrophy
Osaka University Graduate School of Medicine
Department of Functional Diagnostic Science

PAISES BAIXOS

Zuid-Holland
LEIDEN

Financiado por um membro do IRDiRCRNA processing role in muscle degeneration opens therapeutical options for adult myopathies
LUMC - Leids Universitair Medisch Centrum
Afdeling Humane Genetica

REINO UNIDO

Greater London
LONDON

Financiado por um membro do IRDiRCUnderstanding and Ameliorating Pathogenesis in FSHD
School of Biomedical sciences - King's College London
Randall Division of Cell and Molecular Biophysics

REINO UNIDO

Greater London
LONDON

Financiado por um membro do IRDiRCModelling FSHD as a tool for testing therapeutics
School of Biomedical sciences - King's College London
Randall Division of Cell and Molecular Biophysics

REINO UNIDO

Greater London
LONDON

Financiado por um membro do IRDiRCThe Pathogenesis of Spinal and Bulbar Muscular Atrophy
University College London - UCL Darwin Building
University College London

REINO UNIDO

Tyne & Wear
NEWCASTLE UPON TYNE

Financiado por um membro do IRDiRCMICA: 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)

REINO UNIDO

West Midlands
BIRMINGHAM

SUECIA

Stockholms läns landsting
HUDDINGE

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

SUECIA

Stockholms läns landsting
STOCKHOLM

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

SUECIA

Västra Götalandsregionen
GÖTEBORG

ALEMANHA

Saarland
HOMBURG

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

CANADA

Québec
SHERBROOKE

Financiado por um membro do IRDiRCNOVEL STRATEGY FOR DIAGNOSIS OF POMPE PATIENTS USING NEXT GENERATION SEQUENCING TECHNOLOGIES
CIUSSS de l'Estrie - CHUS Fleurimont
Service de génétique médicale

ESPANHA

Andalucía
GRANADA

Financiado por um membro do IRDiRCDevelopment of a strategy of cell-gene therapy for treatment of Pompe disease
GENYO - Genómica e Investigación Oncológica
Laboratorio de Terapia Génica y Celular

ESPANHA

Madrid
MADRID

Financiado por um membro do IRDiRCTherapeutic 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

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCGenetic metabolic myopathy - acid maltase deficiency
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCMitochondrial encephalomyopathies and mental retardation
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCPathogenic mechanisms and therapuetic strategies in melas
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCTherapeutic approaches in cell models of mitochondrial diseases
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCMitochondrial encephalomyopathies: approaches to treatment
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCA

ILE-DE-FRANCE
EVRY

FRANCA

ILE-DE-FRANCE
PARIS

Analysis of cardiac phenotype and underlying genotype in glycogen storage disease type 2B
CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
Départements de génétique et de cardiologie - Centre de référence des maladies cardiaques héréditaires

FRANCA

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"

FRANCA

PROVENCE-ALPES-COTE D'AZUR
NICE

Financiado por um membro do IRDiRCMitochondrial 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)

ITALIA

CAMPANIA
NAPOLI

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

ITALIA

EMILIA ROMAGNA
ADDRESS: NOT PROVIDED - IT

ITALIA

LIGURIA
GENOVA

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

JAPAO

JAPAN
HYOGO

Financiado por um membro do IRDiRCDevelopment ofa new molecular targeted therapy for Fukuyama muscular dystrophy
Kobe University Graduate School of Medicine
Department of Pediatrics

PORTUGAL

CENTRO
ADDRESS: NOT PROVIDED - PT

REINO UNIDO

Cambridgeshire
ST NEOTS

REINO UNIDO

Greater London
LONDON

AUSTRIA

WIEN
ADDRESS: NOT PROVIDED - AT

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

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCTherapeutics for the chorioretina
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

JAPAO

JAPAN
OSAKA

Financiado por um membro do IRDiRCDevelopment of a novel drug including medium chain faty acids for triglyceride deposit cardiomyovasculpathy
Osaka University Graduate School of Medicine
Department of Cardiovascular Medicine

Projetos de investigação multicêntricos