Orphanet: Search by disease/gene
x

Search for a research project

* (*) mandatory field

51 Result(s)

Sort by

Funded by an IRDiRC member =

Research projects

GERMANY

Niedersachsen
GÖTTINGEN

SPAIN

Cataluńa
ESPLUGUES DE LLOBREGAT

SPAIN

Madrid
MADRID

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

JAPAN

JAPAN
TOKYO

Funded by an IRDiRC memberFormation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute

SPAIN

Madrid
MADRID

Funded by an IRDiRC memberDevelopment of a non-invasive diagnostic platform for OXPHOS diseases based on the detection of new protein biomarkers involved in mitochondrial dysfunction
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en Enfermedades Raras, Mitocondriales y Neuromusculares

FINLAND

Finland
HELSINKI

Funded by an IRDiRC memberMitochondrial dysfunction remodels vitamin-B metabolism: Roles for neurological disease and therapy
University of Helsinki
Stem Cells and Metabolism Research Program

FINLAND

Finland
HELSINKI

Tissue-specific mitochondrial signaling and adaptations to mistranslation
University of Helsinki
Stem Cells and Metabolism Research Program

FINLAND

Finland
TAMPERE

Funded by an IRDiRC memberMolecular Thermobiology of Mitochondria
Tampere University
Faculty of Medicine and Health Technology

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

NOUVELLE AQUITAINE
BORDEAUX

Funded by an IRDiRC memberUbinergy: Control of mitochondrial energy metabolism by the ubiquitin/proteasome system
CHU de Bordeaux-GH Pellegrin
Laboratoire Maladies Rares : Génétique et Métabolisme (MRGM)

GERMANY

Bayern
MÜNCHEN

Funded by an IRDiRC membermitoNET: german Network for mitochondrial diseases - coordination
Friedrich-Baur-Institut
Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik

GERMANY

Bayern
MÜNCHEN

Funded by an IRDiRC membermitoNET: subproject mitoVALID - Development of a platform for functional validation in diagnostics
Institut für Humangenetik der TU München
Institut für Humangenetik

GERMANY

Bayern
MÜNCHEN

Funded by an IRDiRC membermitoNET: subproject mitoSAMPLE - Collection of biological materials for network partners
Institut für Humangenetik der TU München
Institut für Humangenetik

GERMANY

Niedersachsen
GÖTTINGEN

Clinical and genetic presentation of juvenile mitochondriopathies
Universitätsmedizin Göttingen
Klinik für Kinder- und Jugendmedizin

HUNGARY

Közép-Magyarország
BUDAPEST

Investigation of mitochondrial dysfunction with genomic and biochemical analysis
Institute of Genomic Medicine and Rare Disorders, Semmelweis University
Genetics Laboratory

ITALY

LOMBARDIA
MILANO

Funded by an IRDiRC memberIdentification and characterization of nuclear genes responsible for human mitochondrial disorders
Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
U.O. di Neurogenetica Molecolare

SPAIN

Madrid
MADRID

Funded by an IRDiRC memberStudy of the therapeutic potential of physical exercise in mitochondrial diseases
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en Enfermedades Raras, Mitocondriales y Neuromusculares

CANADA

Ontario
OTTAWA

Funded by an IRDiRC member'Emerging 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 member'Emerging team in rare diseases: achieving the ''triple aim'' for inborn errors of metabolism'
University of Ottawa
Department of Epidemiology and Community Medicine

SWEDEN

Stockholms läns landsting
STOCKHOLM

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

SWITZERLAND

Suisse Alémanique
ZÜRICH

Identification and Validation of Relevant Patient and Observer Reported Outcome Measurements in Inborn Errors of Metabolism
Universitäts - Kinderspital Zürich - Eleonorenstiftung
Abteilung für Stoffwechselkrankheiten

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 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

Multicentric Research projects