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Onderzoeksprojecten

ITALIË

FRIULI VENEZIA GIULIA
UDINE

Role of protein misfolding in the pathogenesis of Niemann-Pick type C disease: a possible therapeutic target
Azienda Ospedaliero-Universitaria "Santa Maria della Misericordia" di Udine
Centro di Coordinamento Regionale per le Malattie Rare

ITALIË

FRIULI VENEZIA GIULIA
UDINE

Screening of Niemann Pick type C among patients affected with psychiatric disease of unknown ethiology
Azienda Ospedaliero-Universitaria "Santa Maria della Misericordia" di Udine
Centro di Coordinamento Regionale per le Malattie Rare

ITALIË

TOSCANA
PISA

Study of cellular mechanisms of neuronal dysfunction in Niemann Pick type C disease and identification of neuroprotective therapies
Fondazione "Gabriele Monasterio" - Consiglio Nazionale delle Ricerche CNR
Area della Ricerca

JAPAN

JAPAN
CHIBA

Gefinancierd door een IRDiRC-lidPathological analysis and development ofan innovative therapeutic agent ofniemann-pick disease type C
Graduate School of Pharmaceutical Sciences, Chiba University
Laboratory of Chemical Pharmacology

JAPAN

JAPAN
KUMAMOTO

Gefinancierd door een IRDiRC-lidDeveloping new drugs for Niemann-Pick disease type C
Institute of Molecular Embryology and Genetics, Kumamoto University
Department of Cell Modulation

SPANJE

Cataluña
BARCELONA

Corrective therapy of splicing by antisense oligonucleotides for Niemann-Pick disease type C: pre-clinical study in a murine model
Universitat de Barcelona. Facultat de Biologia
Departamento de genética molecular humana

USA

Washington
ADDRESS: NOT PROVIDED - US

Gefinancierd door een IRDiRC-lidTherapeutics for rare and neglected diseases - science
Institution: Information not provided - US

USA

Washington
ADDRESS: NOT PROVIDED - US

Gefinancierd door een IRDiRC-lidDevelopment of neurosteroids for lysosomal storage disorders
Institution: Information not provided - US

USA

Washington
ADDRESS: NOT PROVIDED - US

Gefinancierd door een IRDiRC-lidGenetic and genomic analysis of niemann pick type c1 disease
Institution: Information not provided - US

USA

Washington
ADDRESS: NOT PROVIDED - US

Gefinancierd door een IRDiRC-lidClinical investigations of niemann-pick disease; type c
Institution: Information not provided - US

USA

Washington
ADDRESS: NOT PROVIDED - US

Gefinancierd door een IRDiRC-lidInborn errors of cholesterol synthesis
Institution: Information not provided - US

DUITSLAND

Niedersachsen
GÖTTINGEN

USA

Washington
ADDRESS: NOT PROVIDED - US

PORTUGAL

NORTE
PORTO

Splicing therapeutics for patients affected by lisosomal storage disorders.
Instituto Nacional de Saúde Dr. Ricardo Jorge - Porto
Unidade de Investigação & Desenvolvimento; Departamento de Genética

PORTUGAL

NORTE
PORTO

The crosstalk between lipid antigen presentation and the pathogenic mechanisms of Lysosomal Storage Diseases
Instituto de Biologia Molecular e Celular
Unidade de Biologia do Lisossoma e do Peroxissoma

SPANJE

Madrid
MADRID

FRANKRIJK

ILE-DE-FRANCE
PARIS

Gefinancierd door een IRDiRC-lidSTaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy - FR
Muséum National d'Histoire Naturelle
Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196

FRANKRIJK

PAYS DE LA LOIRE
NANTES

Gefinancierd door een IRDiRC-lidFROGH : 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

JAPAN

JAPAN
TOKYO

Gefinancierd door een IRDiRC-lidFormation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute

CANADA

Ontario
OTTAWA

Gefinancierd door een IRDiRC-lidEmerging 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

Gefinancierd door een IRDiRC-lidEmerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
University of Ottawa
Department of Epidemiology and Community Medicine

USA

Washington
ADDRESS: NOT PROVIDED - US

Gefinancierd door een IRDiRC-lidBasic and clinical studies in immune function and metabolism
Institution: Information not provided - US

USA

Washington
ADDRESS: NOT PROVIDED - US

ZWEDEN

Stockholms läns landsting
STOCKHOLM

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

ZWITSERLAND

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

Multicentrische onderzoeksprojecten