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Funded by an IRDiRC member =

Research projects

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

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

ITALY

LAZIO
ROMA

Role of interleukin-6 in duchenne muscular dystrophy
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
U.O. di Reumatologia

ITALY

LOMBARDIA
MILANO

Rescue of human dystrophin after transplantation of exon skipping-engineered DMD stem cells in a dystrophic animal model
Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico
Laboratorio Cellule Staminali

ITALY

LOMBARDIA
MILANO

SPAIN

País Vasco
SAN SEBASTIÁN

Funded by an IRDiRC memberPharmacological modulation of ryanodine receptor in Duchenne and Becker muscular dystrophies
Instituto de Investigación Sanitaria Biodonostia
Área de Neurociencias

UNITED KINGDOM

West Midlands
BIRMINGHAM

AUSTRIA

WIEN
WIEN

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

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
MONTRÉAL

Funded by an IRDiRC memberAn autologous cell therapy approach to treat Duchenne muscular dystrophy using engineered muscle tissue derived from induced pluripotent stem cells.
Centre hospitalier universitaire Sainte-Justine
Department of Pharmacology / Département de pharmacologie

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

FRANCE

ILE-DE-FRANCE
ORSAY

Funded by an IRDiRC memberDystrophins In The Nervous System: From Neurophysiology to Molecular Therapy
Université Paris-Sud
Institut des Neurosciences Paris-Saclay

FRANCE

ILE-DE-FRANCE
PARIS

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

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberSIRD: Stimulating Intrinsic Repair for DMD - FR
Institut Cochin - Faculté de Médecine de Paris Descartes
Développement, Génétique et Physiopathologie musculaires

FRANCE

PAYS DE LA LOIRE
NANTES

Funded by an IRDiRC memberPre-clinical and clinical development of AAV-mediated microdystrophin delivery for gene therapy of DMD
Université de Nantes
UMR 1089 - Thérapie Génique translationnelle des maladies neuromusculaires et de la rétine

GERMANY

Baden-Württemberg
FREIBURG

Funded by an IRDiRC memberCARE-NMD : Improving care for Duchenne muscular dystrophy (coordination) - DE
Zentrum für Kinder- und Jugendmedizin Freiburg
Klinik für Neuropädiatrie und Muskelerkrankungen

GERMANY

Baden-Württemberg
FREIBURG

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

ITALY

EMILIA ROMAGNA
FERRARA

BIO-NMD: genomic biomarker discovery by genome-wide analyses of DNA and RNA (WP2)
A.O.U. di Ferrara - Polo Chimico-Bio-Medico
U.O. di Genetica Medica

ITALY

LAZIO
ROMA

Funded by an IRDiRC memberAssessment of upper limb function in non-ambulatory patients with Duchenne Muscular Dystrophy
IRCCS Ospedale Pediatrico Bambino Gesù
Unità di Malattie Neuromuscolari e Neurodegenerative - Laboratorio di Medicina Molecolare

ITALY

LAZIO
ROMA

Funded by an IRDiRC memberLong term natural history in Duchenne muscular dystrophy
Policlinico Universitario "A. Gemelli"
U.O.C. Neuropsichiatria Infantile

ITALY

LAZIO
ROMA

Role of HDAC4 in muscular dystrophy and regeneration
Sapienza Università di Roma - Sezione di Ricerca "Valdoni Lab"
Dipartimento di Scienze Anatomiche, Istologiche, Medico Legali e dell'Apparato Locomotore

ITALY

LAZIO
ROMA

Funded by an IRDiRC memberAssessment of upper limb function in non ambulant Duchenne muscular dystrophy
Università Cattolica del Sacro Cuore
Istituto di Neurologia

ITALY

LOMBARDIA
MILANO

Adipose tissue-derived myogenic preursors for the treatment of Muscular Dystrophy
Centro Cardiologico Monzino
Laboratorio di Biologia Vascolare e Terapia Genica

ITALY

LOMBARDIA
MILANO

ITALY

VENETO
PADOVA

ITALY

VENETO
PADOVA

BIO-NMD: biomarker discovery and validation on animal models (WP5)
Università degli Studi di Padova- Polo A.Vallisneri
Dipartimento di Istologia, Microbiologia e Tecnologie Mediche

ITALY

VENETO
PADOVA

MYORES: Multi-organismic approach to study normal and aberrant muscle development, function and repair
Università degli Studi di Padova- Polo A.Vallisneri
Dipartimento di Scienze Biomediche Sperimentali

NETHERLANDS

Gelderland
NIJMEGEN

NETHERLANDS

Gelderland
NIJMEGEN

NETHERLANDS

Zuid-Holland
LEIDEN

NETHERLANDS

Zuid-Holland
LEIDEN

NETHERLANDS

Zuid-Holland
LEIDEN

BIO-NMD: exploratory biomarker validation in humans (WP4)
LUMC - Leids Universitair Medisch Centrum
Afdeling Humane Genetica

NETHERLANDS

Zuid-Holland
LEIDEN

Funded by an IRDiRC memberAntisense therapy for several major rare diseases
LUMC - Leids Universitair Medisch Centrum
Afdeling Humane Genetica

SPAIN

Cataluña
BARCELONA

Funded by an IRDiRC memberPDGF as a new biomarker and therapeutic target in patients with muscular dystrophy
Hospital de la Santa Creu i Sant Pau
Servicio de Neurología

SPAIN

Galicia
SANTIAGO DE COMPOSTELA

Funded by an IRDiRC memberRegenerative potential of the obestatin/GPR39 system on the treatment of pathologies characterized by muscle atrophy
IDIS - Instituto de Investigación Sanitaria de Santiago de Compostela
Grupo de Endocrinología Celular

SPAIN

País Vasco
BARAKALDO

Funded by an IRDiRC memberENiGMA: Advanced gene editing for Duchenne Muscular Dystrophy
Instituto de Investigación sanitaria BioCruces
Grupo de Enfermedades Neuromusculares

SPAIN

País Vasco
BARAKALDO

QUADRES: QUAntification of Dystrophin Restoration by Exon Skippping
Instituto de Investigación sanitaria BioCruces
Grupo de Enfermedades Neuromusculares

UNITED KINGDOM

Greater London
LONDON

Funded by an IRDiRC memberAdvances in oligonucleotide-mediated exonskipping for DMD and related disorders - WP3 - Natural history extension
UCL Institute of Child Health, University College London
Dubowitz Neuromuscular Centre

UNITED KINGDOM

Oxfordshire
OXFORD

Optimization of U7 snRNA vectors for therapy of Duchenne Muscular Dystrophy (DMD)
Le Gros Clark Building - University of Oxford
MRC Functional Genetics Unit

UNITED KINGDOM

South Yorkshire
SHEFFIELD

Regulation of dystroglycan function and its implications in Duchenne Muscular Distrophy
University of Sheffield
Department of Biomedical Science

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 -

CANADA

Québec
MONTRÉAL

Funded by an IRDiRC memberRegulation of Skeletal Muscle Stem Cell Activity by microRNA and Cytoplasmic mRNP Granules
Hôpital général juif - Jewish General Hospital
Lady Davis Institute for Medical Research

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

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

ITALY

LAZIO
ROMA

ITALY

VENETO
PADOVA

New mechanisms for the control of TGF-BETA/MYOSTATIN signaling in Muscular Dystrophy
CNR - Istituto di Neuroscienze
Dipartimento di Istologia Microbiologia e Biotecnologie Mediche

NETHERLANDS

Zuid-Holland
LEIDEN

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

UNITED KINGDOM

Greater London
LONDON

Study about the control of the efficiency of muscle regeneration and its implications in muscular dystrophies
School of Biomedical sciences - King's College London
Randall Division of Cell and Molecular Biophysics

UNITED KINGDOM

Greater London
LONDON

Relating satellite cell heterogeneity to stem cell function and its implications in muscular dystrophies
School of Biomedical sciences - King's College London
Randall Division of Cell and Molecular Biophysics

BELGIUM

ANTWERPEN
ANTWERPEN

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
CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
Equipe "Bases moléculaires, physiopathologie et traitement des maladies neurodégénératives"

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

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

FRANCE

ILE-DE-FRANCE
CRÉTEIL

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

FRANCE

BOURGOGNE-FRANCHE-COMTE
STRASBOURG

Funded by an IRDiRC memberClinical and psychopathological approach of neuromuscular disease on gender identity
Université de Strasbourg
Subjectivité, lien social et modernité (EA3071)

FRANCE

ILE-DE-FRANCE
EVRY

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberChildbirth and parenthood in women with motor disability related to rare diseases
Fondation hospitalière Sainte-Marie
Service d'Aide à la Parentalité des Personnes en Situation de Handicap

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

Greater London
LONDON

Explaining and changing adverse illness perceptions in muscle disease by a cognitive behavioural therapy technique
Guy's Hospital
Health Psychology Section, Psychology Department, Institute of Psychiatry

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

TREAT-NMD: Accelerating Treatments for Neuromuscular Diseases (coordination)
Newcastle upon Tyne Hospitals NHS Trust
Institute of Genetic Medicine

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

NMD-CHIP: societal aspects of the development of targeted DNA-chips for high throughput diagnosis of neuromuscular disorders (WP7)
PEALS Research Centre, Newcastle University, 4th Floor
Policy, Ethics and Life Sciences (PEALS) Research Centre

ITALY

CAMPANIA
NAPOLI

Funded by an IRDiRC memberTelethon Undiagnosed Disease Program - Revised Proposal
Azienda Ospedaliera Universitaria - Seconda Università degli Studi di Napoli
Laboratorio di Genetica Medica

UNITED KINGDOM

Lothian
EDINBURGH

Genetic disorders of human brain development
Western General Hospital
MRC Human Genetics Unit

Multicentric Research projects