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Funded by an IRDiRC member = Member of a ERN =

Research projects

NETHERLANDS

Utrecht
UTRECHT

GMA - Group medical appointments for neuromuscular patients: To compare group medical appointments (shared medical appointments or group visits) with conventional one to one appointments for patients with a chronic neuromuscular disease in terms of health outcome (quality of life) and costs, an intervention study.
Piet van Dommelenhuis
CBO - Kwaliteitsinstituut voor de gezondheidszorg

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NETHERLANDS

Zuid-Holland
LEIDEN

GMA - Group medical appointments for neuromuscular patients: To compare group medical appointments (shared medical appointments or group visits) with conventional one to one appointments for patients with a chronic neuromuscular disease in terms of health outcome (quality of life) and costs, an intervention study.
LUMC - Leids Universitair Medisch Centrum
Afdeling Public Health en Eerstelijnsgeneeskunde

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UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

Pathogenic mechanisms and effects of treatment in chronic, idiopathic inflammatory myopathies, myositis
University of Cambridge
Department of Medicine

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UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberImmunopathogen autoimmune inflammatory myopathies--polymyositis/dermatomyositis
Institution: Information not provided - US

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FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Funded by an IRDiRC memberIgG4 in inflammatory neuropathies: pathogenic effects and novel targets
Faculté de médecine de Marseille - Secteur Nord
Centre de Recherche en Neurobiologie et Neurophysiologie de Marseille

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ITALY

EMILIA ROMAGNA
ADDRESS: NOT PROVIDED - IT

Funded by an IRDiRC memberRole of PTX3 in the pathogenesis of idiopathic inflammatory myopathies
Institution: Information not provided - IT

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UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberInnate immune activation in autoimmune myopathy
Institution: Information not provided - US

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AUSTRIA

WIEN
WIEN

Funded by an IRDiRC memberiDysChart: Charting key molecules and mechanisms of human immune Dysregulation
AKH BT 25.3
Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases

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CANADA

Ontario
TORONTO

Funded by an IRDiRC memberProtein transport into and across cellular membranes
Sunnybrook Health Sciences Centre
Sunnybrook Research Institute

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SPAIN

Andalucía
CÓRDOBA

Funded by an IRDiRC memberIdentification of molecular heterogeneity associated with cardiovascular disease, clinical course and therapeutic response in systemic autoimmune diseases
IMIBIC - Instituto Maimónides de Investigación Biomédica de Córdoba
GC05 - Grupo de investigación en enfermedades autoinmunes inflamatorias sistémicas y crónicas del aparato locomotor

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KOREA, REPUBLIC OF

KOREA, REPUBLIC OF
KOREA

Funded by an IRDiRC memberFactors associated with chronic and severe status of rare disease and health-related quality of life among rare disease patients
Korea National Institute of Health

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KOREA, REPUBLIC OF

KOREA, REPUBLIC OF
KOREA

Funded by an IRDiRC memberIntegrative study of epigenetic variations in rare diseases
Korea National Institute of Health

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KOREA, REPUBLIC OF

KOREA, REPUBLIC OF
SEOUL

Funded by an IRDiRC memberEstablishment and operation of the clinical research network for rare glomerular diseases
Yonsei University College of Medicine

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SPAIN

Galicia
SANTIAGO DE COMPOSTELA

Funded by an IRDiRC memberStrategic action in Galicia 2.0 for hereditary kidney disease: genetic diagnosis and establishment of a galician register of patients, a cost/efficient prevention measure
Hospital Clínico Universitario de Santiago
Fundación Pública Galega de Medicina Xenómica

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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
Peripheral Neuropathy Research Group

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FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

Funded by an IRDiRC memberImpact of pre-phonation inspiratory volume on speech quality of neuromuscular patients requiring non invasive ventilation
Institution: Information not provided - FR

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FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

Funded by an IRDiRC memberImpact du type d'interface chez les patients neuromusculaires traités par ventilation non invasive nocturne: un essai croisé randomisé
Institution: Information not provided - FR

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FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

Funded by an IRDiRC memberImpact of blowpipe training on cough efficiency in neuromuscular patients : a prospective evaluation.
Institution: Information not provided - FR

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FRANCE

AUVERGNE-RHONE-ALPES
BRON

Funded by an IRDiRC memberCollaborative program for a systematic, mecanistic and pharmacologic approach of rare neuromuscular diseases
CHU de Lyon HCL - GH Est
Centre de biotechnologie cellulaire

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FRANCE

ILE-DE-FRANCE
EVRY

NMD-CHIP: design, production and technical validation of candidate genes targeted chips (WP3)
Généthon
Centre de Recherche Généthon

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IRELAND

County Dublin
DUBLIN

Irish Kidney Gene Project
Beaumont Hospital
Kidney Centre

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IRELAND

County Dublin
DUBLIN

Funded by an IRDiRC memberEstablishment of a scalable semantic data architecture for study of chronic disease
Trinity College Dublin
ADAPT Centre

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IRELAND

County Dublin
DUBLIN

Funded by an IRDiRC memberEnsemble averaging for complex disease prediction in the large p small n domain from multiple data sources
Trinity College Dublin
School of Computer Science and Statistcs - O'Reilly Institute

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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

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SPAIN

Madrid
MADRID

RAREGenomics: Network of Genomic, Functional, Clinical and Therapeutic Resources for the Study of Rare Neurological Diseases
Hospital Universitario Fundación Jiménez Díaz
Servicio de Genética Clínica

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Multicentric Research projects