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Funded by an IRDiRC member =

Research projects

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

SPAIN

Cataluña
BARCELONA

Models for congenital muscular dystrophies: the search for phenotype suppressors
IBMB - Instituto de Biología Molecular de Barcelona
Eventos de señalización que controlan la migración celular durante la morfogénesis

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

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

BELGIUM

VLAAMS BRABANT
LEUVEN

EUROGLYCANET: European network on Congenital Disorders of Glycosylation (coordination)
University Hospitals Leuven - Gasthuisberg
Clinical Genetics Unit

FRANCE

GRAND-EST
ILLKIRCH-GRAFFENSTADEN

Funded by an IRDiRC memberGenCognition: Genetic basis of intellectual disability and other cognitive disorders
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Médecine translationnelle et neurogénétique

FRANCE

HAUTS-DE-FRANCE
VILLENEUVE D'ASCQ

Funded by an IRDiRC memberMolecular and pathophysiological bases of Congenital Disorders of Glycosylation
USTL - Université des Sciences et Technologies de Lille 1
Unité de glycobiologie structurale et fonctionnelle

FRANCE

HAUTS-DE-FRANCE
VILLENEUVE D'ASCQ

Funded by an IRDiRC memberEURO-CDG-2: A European research network directed towards improving diagnosis and treatment of inborn glycosylation disorders - FR
USTL - Université des Sciences et Technologies de Lille 1
Unité de glycobiologie structurale et fonctionnelle

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberEURO-CDG-2: A European research network directed towards improving diagnosis and treatment of inborn glycosylation disorders - FR
CHU Paris Nord-Val de Seine - Hôpital Xavier Bichat-Claude Bernard
Centre d'étude des Glycopathies

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberEDD-GENOPATH: Epileptogenic Developmental Disorders: Integrated approach to improve diagnosis and understanding of pathophysiological mechanisms
Institut Cochin (INSERM U 1016 - CNRS UMR 8104 - Paris Descartes UMR-S1016)
Equipe "Génétique et physiopathologie de maladies neurodéveloppementales et neuromusculaires"

FRANCE

PAYS DE LA LOIRE
NANTES

In vivo modeling for the genetic diagnosis of intellectual disabilities
CHU de Nantes - Institut de Biologie
Laboratoire de génétique moléculaire

GERMANY

Baden-Württemberg
HEIDELBERG

Funded by an IRDiRC memberEURO-CDG-2: A European research network directed towards improving diagnosis and treatment of inborn glycosylation disorders - DE (partner no 5)
Dietmar-Hopp-Stoffwechselzentrum
Klinik für Kinderheilkunde I - Arbeitsgruppe Glykosylierungsdefekte

GERMANY

Berlin
BERLIN

Funded by an IRDiRC memberEURO-CDG-2: A European research network directed towards improving diagnosis and treatment of inborn glycosylation disorders - DE (partner no 3)
Charité - Universitätsmedizin Berlin (CVK)
Institut für Medizinische Genetik und Humangenetik

GERMANY

Nordrhein-Westfalen
MÜNSTER

CDG syndromes: Identification and characterisation of human glycosylation defects
Max-Planck-Gesellschaft
Vascular Glycoimmunology Laboratory

NETHERLANDS

Zuid-Holland
LEIDEN

SPAIN

Madrid
CANTOBLANCO

Funded by an IRDiRC memberEURO-CDG-2: A European research network directed towards improving diagnosis and treatment of inborn glycosylation disorders - ES
Universidad Autónoma de Madrid. Facultad de Ciencias
Centro de Diagnóstico de Enfermedades Moleculares

SPAIN

Madrid
CANTOBLANCO

Funded by an IRDiRC memberGenetic Neurometabolic Disorders: Advances in the Diagnosis, pathophysiology and development of protein stabilization therapies
Universidad Autónoma de Madrid. Facultad de Ciencias
Centro de Diagnóstico de Enfermedades Moleculares

SPAIN

Madrid
MADRID

Funded by an IRDiRC memberAlpha-dystroglycanopathies: Pathophysiology, genetics and studies in animal models
Universidad Autónoma de Madrid. Facultad de Medicina
Departamento de Bioquímica

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

Funded by an IRDiRC memberActive BRIDGE Studies - Specialist Pathology: Evaluating Exomes in Diagnostics (SPEED)
Wellcome Trust/MRC Building
Cambridge Institute for Medical Research

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMkp5 in dystrophic muscle disease
Institution: Information not provided - US

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 memberEmerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
Children's Hospital of Eastern Ontario
Newborn Screening Ontario

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 memberEmerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
University of Ottawa
Department of Epidemiology and Community Medicine

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

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

HAUTS-DE-FRANCE
LILLE

ID2STOP Orphan : InDividualized Drug Selection Technology for Orphan Patients
Faculté des Sciences Pharmaceutiques et Biologiques de Lille
APTEEUS: le patient au coeur de la découverte de son traitement

FRANCE

ILE-DE-FRANCE
EVRY

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
ANGERS

ITALY

EMILIA ROMAGNA
ADDRESS: NOT PROVIDED - IT

ITALY

LAZIO
ROMA

ITALY

LIGURIA
GENOVA

New technologies and new strategies for neonatal screening
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Laboratorio per lo Studio degli Errori Congeniti del Metabolismo

SWEDEN

Stockholms läns landsting
STOCKHOLM

Inborn errors of endocrinology and metabolism
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery

SWITZERLAND

Suisse Romande
LAUSANNE

Clinical Characteristics of Adult Patients With Inborn Errors of Metabolism in French-speaking Switzerland
Centre Hospitalier Universitaire Vaudois CHUV - Hôpital Beaumont -
CMM - Centre des Maladies Moléculaires

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

UNITED KINGDOM

Lothian
EDINBURGH

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

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberBasic and clinical studies in immune function and metabolism
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

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

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

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
ADDRESS : NOT PROVIDED - JP

Funded by an IRDiRC memberEstablishment of Integrated Genome Analysis Center for Hereditary
Institution: Information not provided - JP

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

ILE-DE-FRANCE
CRÉTEIL

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

SWITZERLAND

Suisse Alémanique
BASEL

Massively parallel sequencing for gene discovery in lethal fetal disorders
Universitätsspital Basel
Abteilung für Medizinische Genetik

UNITED KINGDOM

Cambridgeshire
HINXTON

The Deciphering Developmental Disorders (the DDD study)
Wellcome Trust Sanger Institute
DECIPHER

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

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

Funded by an IRDiRC memberNewcastle University Single Cell Functional Genomics Unit (NUSCU)
Newcastle University
Institute of Genetic Medicine

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

Multicentric Research projects