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Funded by an IRDiRC member =

Research projects

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Human pluripotent stem cells as disease models for trinucleotide instability in myotonic dystrophy type I
Universitair Ziekenhuis Brussel - UZ Brussel
Department of Embryology and Genetics

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

CYPRUS

Cyprus
NICOSIA

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
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

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

Funded by an IRDiRC memberSEDUCE : Stem cells for drug screening targeting splices - FR
GENOPOLE - Campus 1
I-Stem - Institut des cellules Souches pour le Traitement et l'Etude des maladies Monogéniques

FRANCE

ILE-DE-FRANCE
PARIS

The issue of prenatal / preimplantation diagnosis in parentage information in neurogenetic and neuromuscular dominant diseases
CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
UF de Neurogénétique Moléculaire et Cellulaire

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 memberTHERADM : Modified MBNL gene therapy targeting nuclear expanded-CUG repeats to counteract toxic RNA gain-of-function in Myotonic Dystrophy - FR
Institut de Myologie - Hôpital Pitié-Salpêtrière
Équipe "Dystrophie Myotonique, Physiopathologie & Biothérapie"

GERMANY

Bayern
MÜNCHEN

Funded by an IRDiRC memberOPTIMISTIC: Observational Prolonged Trial In Myotonic dystrophy type 1 to Improve QoL-Standards, a Target Identification Collaboration - DE
Friedrich-Baur-Institut
Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik

ITALY

LAZIO
ROMA

Funded by an IRDiRC memberClinical 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

ITALY

LOMBARDIA
MILANO

Funded by an IRDiRC memberClinical 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

ITALY

LOMBARDIA
SAN DONATO MILANESE

Funded by an IRDiRC memberSkeletal muscle and circulating microRNAs in myotonic dystrophy type 1
IRCCS Policlinico San Donato
Laboratorio di Cardiologia Molecolare

JAPAN

JAPAN
OSAKA

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

NETHERLANDS

Gelderland
NIJMEGEN

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

SWEDEN

Stockholms läns landsting
HUDDINGE

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

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

Funded by an IRDiRC memberA rational approach to targeting unstable rna repeats
Institution: Information not provided - US

FRANCE

GRAND-EST
ILLKIRCH-GRAFFENSTADEN

Funded by an IRDiRC memberRNA DISEASES: UNDERSTANDING THE CAUSES OF THE RNA GAIN OF FUNCTION DISEASES - FR
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Médecine translationnelle et neurogénétique

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

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

SWEDEN

Västerbottens läns landsting
UMEÅ

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

GRAND-EST
ILLKIRCH-GRAFFENSTADEN

Funded by an IRDiRC memberCombining high throughput sequencing approaches to define the genetic bases of 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 memberWhite adipose tissue: a stem/stromal cell provider involved in muscle regeneration?
AFM Téléthon - Association Française contre les Myopathies

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberNeuromics: Integrated European -omics research project for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases - FR
Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
Equipe "Bases moléculaires, physiopathologie et traitement des maladies neurodégénératives"

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberSTaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy - FR
Muséum National d'Histoire Naturelle
Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196

FRANCE

OCCITANIE
MONTPELLIER

Comparison and optimization of complete exome sequencing kits for the diagnosis of myopathies and muscular dystrophies
IURC - Institut Universitaire de Recherche Clinique
Laboratoire de génétique moléculaire

FRANCE

PAYS DE LA LOIRE
NANTES

Funded by an IRDiRC memberFROGH : 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

GERMANY

Baden-Württemberg
TÜBINGEN

Funded by an IRDiRC memberNEUROMICS: Integrated European Project on Omics Research of Rare Neuromuscular and Neurodegenerative Diseases -DE-
Institut für Medizinische Genetik und angewandte Genomik Tübingen
Institut für Medizinische Genetik und angewandte Genomik

GERMANY

Nordrhein-Westfalen
BONN

GERMANY

Nordrhein-Westfalen
KÖLN

Funded by an IRDiRC memberNEUROMICS: Integrated European Project on Omics Research of Rare Neuromuscular and Neurodegenerative Diseases -DE-
Institut für Humangenetik am Universitätsklinikum Köln
Institut für Humangenetik

ITALY

CAMPANIA
NAPOLI

Funded by an IRDiRC memberTelethon Undiagnosed Disease Program - Revised Proposal
TIGEM - Telethon Institute of Genetics and Medicine
Genomic Medicine - Telethon Institute of Genetics and Medicine

ITALY

EMILIA ROMAGNA
ADDRESS: NOT PROVIDED - IT

ITALY

LAZIO
ROMA

ITALY

LOMBARDIA
MILANO

Funded by an IRDiRC memberNEUROMICS: Integrated European Project on Omics Research of Rare Neuromuscular and Neurodegenerative Diseases - IT
Università degli Studi di Milano - Scienze Farmacologiche e Biomolecolari
Laboratorio di Biologia delle Cellule Staminali

JAPAN

JAPAN
ADDRESS : NOT PROVIDED - JP

JAPAN

JAPAN
ADDRESS : NOT PROVIDED - JP

JAPAN

JAPAN
TOKYO

Funded by an IRDiRC memberFormation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute

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

NETHERLANDS

Zuid-Holland
LEIDEN

SPAIN

Galicia
A CORUÑA

Funded by an IRDiRC memberStudy of cardiac extracellular matrix proteins involved in the development of ischemic heart disease, idiopathic dilated cardiomyopathy or hypertrophic cardiomyopathy
INIBIC - Instituto de Investigación Biomédica de A Coruña
Grupo de investigación en Biomarcadores cardíacos

FRANCE

ILE-DE-FRANCE
CRÉTEIL

Funded by an IRDiRC memberMuscle stem cell quiescence and heterogeneity
Faculté de Médecine de Créteil
Equipe "Biologie du système neuromusculaire"

SPAIN

Andalucía
SEVILLA

Funded by an IRDiRC memberCreation of a database of genetic variants in the gypsy population for the diagnosis and prevention of neuromuscular diseases
IBIS - Instituto de Biomedicina de Sevilla
Grupo de Fisiología molecular de la sinapsis

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

ILE-DE-FRANCE
EVRY

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberHUMAn Neuromuscular Integrative System for drug discovery
Université Paris Descartes - Paris 5
Centre de Neurophysique, Physiologie et Pathologie - CNRS UMR 8119

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

Multicentric Research projects