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Funded by an IRDiRC member = Member of a ERN =

Research projects

AUSTRIA

WIEN
ADDRESS: NOT PROVIDED - AT

Funded by an IRDiRC memberPoLiMeR - Polymers in the Liver: Metabolism and Regulation - AT
Institution: Information not provided - AT

CANADA

Colombie-Britannique
VICTORIA

CANADA

Ontario
TORONTO

SPAIN

Madrid
MADRID

Funded by an IRDiRC memberIdentification of new genes causing rare diseases in pediatric patients, searching of genetic pharmacological targets, and drugs discovery, the steps for a personalized medicine
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en enfermedades raras, mitocondriales y neuromusculares

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberA powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US

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, 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

ESTONIA

Tartu
TARTU

Funded by an IRDiRC memberIDOLS-G: Improved diagnostic output in large sarcomeric genes - EE
Department of Clinical Genetics - University of Tartu
Department of Clinical Genetics

FINLAND

Finland
HELSINKI

FRANCE

GRAND-EST
ILLKIRCH-GRAFFENSTADEN

Funded by an IRDiRC memberIDOLS-G: Improved diagnostic output in large sarcomeric genes - FR
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Médecine translationnelle et neurogénétique

HUNGARY

Közép-Magyarország
BUDAPEST

Funded by an IRDiRC memberIDOLS-G: Improved diagnostic output in large sarcomeric genes - HU
Semmelweis University
Department of Biophysics and Radiation Biology

ITALY

LAZIO
ROMA

Funded by an IRDiRC memberThe Italian Expanded newborn screening program
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

ITALY

TOSCANA
SESTO FIORENTINO (FIRENZE)

Funded by an IRDiRC memberIDOLS-G: Improved diagnostic output in large sarcomeric genes - IT
Università degli Studi di Firenze
Dipartimento di Biologia

NETHERLANDS

Noord-Holland
AMSTERDAM

Funded by an IRDiRC memberIDOLS-G: Improved diagnostic output in large sarcomeric genes - NL
Amsterdam UMC, locatie VUmc
Afdeling Fysiologie

SPAIN

Cataluña
BARCELONA

Funded by an IRDiRC memberIDOLS-G: Mejora del rendimiento diagnóstico en genes sarcoméricos de gran tamaño - ES
Vall d'Hebron Institut de Recerca VHIR
Grupo de investigación en neurología pediátrica

SWEDEN

Region Stockholm
STOCKHOLM

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

SWITZERLAND

Suisse Romande
LAUSANNE

Cardiac Manifestations in Adult Patients With Inherited Metabolic Disease: a Case Series
Centre Hospitalier Universitaire Vaudois CHUV - Hôpital Beaumont
CMM - Centre des Maladies Moléculaires

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

BELGIUM

ANTWERPEN
ANTWERPEN

Funded by an IRDiRC memberA preclinical study to treat neuromuscular diseases caused by mutations in the small heat shock protein HSPB8
University of Antwerp - UA, Campus Drie Eiken
Peripheral Neuropathy Research Group

CANADA

Ontario
OTTAWA, ONTARIO

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

AUVERGNE-RHONE-ALPES
GRENOBLE

Funded by an IRDiRC memberEarly identification of respiratory exacerbations using NIV device monitoring in slowly progressive neuromuscular disorders
CHU Grenoble Alpes - Site Nord - Hôpital Couple Enfant
Laboratoire EFCR/Pneumologie

FRANCE

AUVERGNE-RHONE-ALPES
LYON

Funded by an IRDiRC memberInterplay between cell metabolism and alternative splicing
ENS - Ecole normale supérieure de Lyon
Laboratoire de biologie et modélisation de la cellule - UMR5239

FRANCE

AUVERGNE-RHONE-ALPES
LYON

Funded by an IRDiRC memberAmino acid metabolism and alternative splicing
ENS - Ecole normale supérieure de Lyon
Laboratoire de biologie et modélisation de la cellule - UMR5239

FRANCE

ILE-DE-FRANCE
CRÉTEIL

FRANCE

ILE-DE-FRANCE
CRÉTEIL

Funded by an IRDiRC memberAn integrated translational program for neuromuscular disorders
Hôpitaux Universitaires Henri Mondor
Centre expert de maladie neuro-musculaire

FRANCE

ILE-DE-FRANCE
GARCHES

Funded by an IRDiRC memberPatient-ventilator asynchrony in neuromuscular disease: real life evaluation using devices softwares
CHU Paris IdF Ouest - Hôpital Raymond Poincaré
Service de Physiologie-Explorations Fonctionnelles - Consultations Troubles du sommeil

FRANCE

ILE-DE-FRANCE
PARIS

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberCollaborative program for a systematic, mecanistic and pharmacologic approach of rare neuromuscular diseases
Institut de Myologie - Hôpital Pitié-Salpêtrière
Centre de Recherche en Myologie

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC membersPAM: Developing peptide-based drugs to target ataxin-2 in neuromuscular disease - FR
Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
Equipe "Traitement de la sclérose latérale amyotrophique : de la génétique au poisson zèbre"

FRANCE

PAYS DE LA LOIRE
NANTES

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Funded by an IRDiRC memberModelisation and Therapeutic Approaches for Rare Diseases
Université de médecine Aix-Marseille Université
Centre de Génétique de Marseille (Marseille Medical Genetics - MMG)

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Funded by an IRDiRC memberA quantitative MRI platform for simultaneous and automatic quantification of fat infiltration and T2 relaxation times in neuromuscular disorders - FR
Université de médecine Aix-Marseille Université
Centre de Résonance Magnétique Biologique et Médicale

ITALY

LAZIO
ROMA

Funded by an IRDiRC memberCellular network driving neuromuscular junction stability
Sapienza Università di Roma
Università degli Studi di Roma "La Sapienza"

NORWAY

Østlandet
OSLO

Mekanisk hostestøtte for barn med nevromuskulær sykdom og svak hoste
Oslo University Hospital, Ullevaal
Oslo University Hospital, Ullevål

SPAIN

Cataluña
BARCELONA

Igenco: In-Depth genomics and cross-omics analysis for undiagnosed rare diseases on a user-friendly collaborative platform
ISGlobal - Instituto de Salud Global de Barcelona
Programa de investigación en Enfermedades no transmisibles y medio ambiente

SPAIN

Madrid
MADRID

UNITED STATES

California
PALO ALTO

Funded by an IRDiRC membersPAM: Developing peptide-based drugs to target ataxin-2 in neuromuscular disease - US
Stanford University School of Medicine
Department of Genetics

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

Multicentric Research projects