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Financiado por um membro do IRDiRC = Membro de uma ERN =

Projetos de investigação

ALEMANHA

Baden-Württemberg
TÜBINGEN

Financiado por um membro do IRDiRCTreatOPON : Preclinical Development of Treatments for OPA1-linked Optic Neuropathies (coordinator)
Department für Augenheilkunde Tübingen
Molekulargenetisches Labor

ALEMANHA

Niedersachsen
OLDENBURG

Financiado por um membro do IRDiRCTreatOPON : Preclinical Development of Treatments for OPA1-linked Optic Neuropathies (partner no 2 )
Carl von Ossietzky Universität Oldenburg
Abteilung für Humangenetik

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCColor vision in inherited retinal degenerations
Institution: Information not provided - US

ESPANHA

Cataluña
BARCELONA

Financiado por um membro do IRDiRCSafety studies of the treatment of depletion syndromes and deletions of mitochondrial DNA through the administration of nucleosides
Vall d'Hebron Institut de Recerca VHIR
Grupo de investigación en patología neuromuscular y mitocondrial

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCA

PAYS DE LA LOIRE
ANGERS

ALEMANHA

Niedersachsen
GÖTTINGEN

Financiado por um membro do IRDiRCCMT-NET : Biomarkers, validation of selected outcome measures (CMTNSmod)
Max-Planck-Institut für experimentelle Medizin
Abteilung Neurogenetik

ALEMANHA

Niedersachsen
GÖTTINGEN

Financiado por um membro do IRDiRCCMT-NET: Network for Research on Charcot-Marie-Tooth disease (coordination)
Max-Planck-Institut für experimentelle Medizin
Abteilung Neurogenetik

ALEMANHA

Nordrhein-Westfalen
AACHEN

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCA resource for mouse models of peripheral neuropathy
Institution: Information not provided - US

FINLANDIA

Finland
HELSINKI

FINLANDIA

Finland
HELSINKI

Hereditary neuropathy and spastic paraplegia: new mechanisms, biomarkers and treatment
University of Helsinki
Stem Cells and Metabolism Research Program

FRANCA

ILE-DE-FRANCE
PARIS

Genetical basis of Charcot-Marie-Tooth disease and hereditary neuropathies
Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
Equipe "Excitabilité, synapse & pathologies associées"

FRANCA

OCCITANIE
MONTPELLIER

Financiado por um membro do IRDiRCNeurofilaments in Health and Charcot-Marie-Tooth diseases
Hôpital Saint Eloi - Bâtiment INM
Equipe "Génétique et thérapie des cécités rétiniennes et du nerf optique"

HUNGRIA

Közép-Magyarország
BUDAPEST

Genetic epidemiology analysis in hereditary neuropathies
Institute of Genomic Medicine and Rare Disorders, Semmelweis University
Genetics Laboratory

ITALIA

EMILIA ROMAGNA
ADDRESS: NOT PROVIDED - IT

ITALIA

EMILIA ROMAGNA
ADDRESS: NOT PROVIDED - IT

Financiado por um membro do IRDiRCUpper Limbs evaluation in hereditary NeuropAthies: the ULNA project
Institution: Information not provided - IT

ITALIA

LOMBARDIA
MILANO

Financiado por um membro do IRDiRCTargeting Schwann cell proteostasis as a therapeutic strategy in Charcot-Marie-Tooth disease
IRCCS Ospedale San Raffaele
Unità di Ricerca - Biologia della mielina

SUECIA

Region Stockholm
ADDRESS: NOT PROVIDED - SE

ESPANHA

Madrid
MADRID

Financiado por um membro do IRDiRCDevelopment 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

ESPANHA

Madrid
MADRID

Financiado por um membro do IRDiRCClinical-genomic correlation, and cellular study of pathomechanisms and pharmacological screening in patients with OXPHOS mitochondrial diseases
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en enfermedades raras, mitocondriales y neuromusculares

ALEMANHA

Bayern
MÜNCHEN

Financiado por um membro do IRDiRCmitoNET: german Network for mitochondrial diseases - coordination
Friedrich-Baur-Institut
Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik

ALEMANHA

Bayern
MÜNCHEN

Financiado por um membro do IRDiRCmitoNET: subproject mitoVALID - Development of a platform for functional validation in diagnostics
Institut für Humangenetik der TU München
Institut für Humangenetik

ALEMANHA

Bayern
MÜNCHEN

Financiado por um membro do IRDiRCmitoNET: subproject mitoSAMPLE - Collection of biological materials for network partners
Institut für Humangenetik der TU München
Institut für Humangenetik

ALEMANHA

Niedersachsen
GÖTTINGEN

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

ESPANHA

Madrid
MADRID

Financiado por um membro do IRDiRCPersonalized mitochondrial disease medicine: from genetic diagnosis to drug discovery through the use of suppressor genes as pharmacological targets
Hospital Universitario 12 de Octubre
Unidad Pediátrica de Enfermedades Mitocondriales y Enfermedades Metabólicas Hereditarias

ESPANHA

Madrid
MADRID

ESPANHA

Madrid
MADRID

Financiado por um membro do IRDiRCStudy 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

FINLANDIA

Finland
HELSINKI

Financiado por um membro do IRDiRCMitochondrial dysfunction remodels vitamin-B metabolism: Roles for neurological disease and therapy
University of Helsinki
Stem Cells and Metabolism Research Program

FINLANDIA

Finland
HELSINKI

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

FINLANDIA

Finland
TAMPERE

Financiado por um membro do IRDiRCMolecular Thermobiology of Mitochondria
Tampere University
Faculty of Medicine and Health Technology

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCA

NOUVELLE AQUITAINE
BORDEAUX

Financiado por um membro do IRDiRCUbinergy: Control of mitochondrial energy metabolism by the ubiquitin/proteasome system
CHU de Bordeaux-GH Pellegrin
Laboratoire Maladies Rares : Génétique et Métabolisme (MRGM)

HUNGRIA

Közép-Magyarország
BUDAPEST

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

ITALIA

LOMBARDIA
MILANO

Financiado por um membro do IRDiRCIdentification and characterization of nuclear genes responsible for human mitochondrial disorders
Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
U.O. di Neurogenetica Molecolare

CANADA

Ontario
TORONTO

ESPANHA

Cataluña
BARCELONA

Identification of new disease-causing genes in patients with mitochondrial energy metabolism disorders and development of a platform
Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS)
Grupo de investigación en enfermedades metabólicas hereditarias

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCA powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US

FRANCA

ILE-DE-FRANCE
PARIS

Financiado por um membro do IRDiRCSTaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy - FR
Muséum National d'Histoire Naturelle
Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196

FRANCA

PAYS DE LA LOIRE
NANTES

Financiado por um membro do IRDiRCFROGH : 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

ITALIA

LAZIO
ROMA

Financiado por um membro do IRDiRCDiverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

JAPAO

JAPAN
TOKYO

Financiado por um membro do IRDiRCFormation 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

Financiado por um membro do IRDiRCEmerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
Children's Hospital of Eastern Ontario
Newborn Screening Ontario

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCBasic and clinical studies in immune function and metabolism
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ITALIA

LAZIO
ROMA

Financiado por um membro do IRDiRCThe Italian Expanded newborn screening program
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

SUECIA

Region Stockholm
STOCKHOLM

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

SUICA

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

Projetos de investigação multicêntricos