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Funded by an IRDiRC member =

Research projects

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

GERMANY

Baden-Württemberg
TÜBINGEN

Funded by an IRDiRC memberTreatOPON : Preclinical Development of Treatments for OPA1-linked Optic Neuropathies (coordinator)
Department für Augenheilkunde Tübingen
Molekulargenetisches Labor

GERMANY

Niedersachsen
OLDENBURG

Funded by an IRDiRC memberTreatOPON : Preclinical Development of Treatments for OPA1-linked Optic Neuropathies (partner no 2 )
Carl von Ossietzky Universität Oldenburg
Abteilung für Humangenetik

ITALY

VENETO
PADOVA

ITALY

VENETO
PADOVA

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberColor vision in inherited retinal degenerations
Institution: Information not provided - US

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

PAYS DE LA LOIRE
ANGERS

AUSTRIA

TIROL
INNSBRUCK

Funded by an IRDiRC memberCMT-NET : Pregnancy assessment in Charcot-Marie-Tooth (CMT) neuropathy
Medizinische Universität Innsbruck
Zentrum Medizinische Genetik Innsbruck

BELGIUM

ANTWERPEN
ANTWERPEN

Funded by an IRDiRC memberProteomic study of the YARS signaling complex in neuronal cells
VIB-UAntwerp Center for Molecular Neurology
Center for Molecular Neurology

FINLAND

Finland
HELSINKI

FINLAND

Finland
HELSINKI

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

FRANCE

ILE-DE-FRANCE
PARIS

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

FRANCE

OCCITANIE
MONTPELLIER

Funded by an IRDiRC memberNeurofilaments in Health and Charcot-Marie-Tooth diseases
Hôpital Saint Eloi - Bâtiment INM
Equipe "Génétique et thérapie des cécités rétiniennes et du nerf optique"

GERMANY

Niedersachsen
GÖTTINGEN

Funded by an IRDiRC memberCMT-NET : Biomarkers, validation of selected outcome measures (CMTNSmod)
Max-Planck-Institut für experimentelle Medizin
Abteilung Neurogenetik

GERMANY

Niedersachsen
GÖTTINGEN

Funded by an IRDiRC memberCMT-NET: Network for Research on Charcot-Marie-Tooth disease (coordination)
Max-Planck-Institut für experimentelle Medizin
Abteilung Neurogenetik

GERMANY

Nordrhein-Westfalen
AACHEN

GERMANY

Nordrhein-Westfalen
MÜNSTER

Funded by an IRDiRC memberCMT-NET : Natural history and risk factors during development study in adult CMT patients
Universitätsklinikum Münster
Klinik für Schlafmedizin und Neuromuskuläre Erkrankungen

HUNGARY

Közép-Magyarország
BUDAPEST

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

ITALY

EMILIA ROMAGNA
ADDRESS: NOT PROVIDED - IT

ITALY

EMILIA ROMAGNA
ADDRESS: NOT PROVIDED - IT

Funded by an IRDiRC memberUpper Limbs evaluation in hereditary NeuropAthies: the ULNA project
Institution: Information not provided - IT

ITALY

LOMBARDIA
MILANO

Funded by an IRDiRC memberCMT national registry: towards definition of standards of care and clinical trials
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
Clinica Neuropatie Degenerative Centrali e Periferiche

ITALY

LOMBARDIA
MILANO

Funded by an IRDiRC memberModulating Neuregulin-1 Signals to Treat Hereditary Demyelinating Neuropathies
IRCCS Ospedale San Raffaele
Divisione di Genetica e Biologia Cellulare

ITALY

LOMBARDIA
MILANO

Funded by an IRDiRC memberTargeting Schwann cell proteostasis as a therapeutic strategy in Charcot-Marie-Tooth disease
IRCCS Ospedale San Raffaele
Unitŕ di Ricerca - Biologia della mielina

ITALY

LOMBARDIA
MILANO

Funded by an IRDiRC memberNEUROMICS: Integrated European Project on Omics Research of Rare Neuromuscular and Neurodegenerative Diseases - IT
Universitŕ degli Studi di Milano - Scienze Farmacologiche e Biomolecolari
Laboratorio di Biologia delle Cellule Staminali

NETHERLANDS

Zuid-Holland
LEIDEN

SWEDEN

Stockholms läns landsting
ADDRESS: NOT PROVIDED - SE

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberA resource for mouse models of peripheral neuropathy
Institution: Information not provided - US

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

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

ILE-DE-FRANCE
PARIS

Research on the differential effect of Pioglitazone in mitochondrial diseases
CHU Paris - Hôpital Robert Debré
Equipe "Physiopathologie et thérapie des maladies mitochondriales"

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberIdentification of nuclear genes of mitochondrial diseases with neurological involvement
Laboratoire de Génétique des maladies mitochondriales
UMR_S1163 : Génétique des maladies mitochondriales

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)

FRANCE

PROVENCE-ALPES-COTE D'AZUR
NICE

Funded by an IRDiRC memberIdentification of new genes and possible de novo mutations in early-onset mitochondrial disorders
Faculté de médecine de Nice Sophia-Antipolis
IRCAN - Institut de Recherche sur le Cancer et le Vieillissement (INSERM U 1081 - CNRS UMR7284)

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

Bayern
MÜNCHEN

Funded by an IRDiRC membermitoNET: german Network for mitochondrial diseases - coordination
LMU Klinikum der Universität München - Campus Großhadern
Arbeitsgruppe Neurogenetik

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

ITALY

TOSCANA
PISA

Funded by an IRDiRC memberDeveloping tools for trial readiness in primary mitochondrial myopathies of the adulthood
Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
U.O. di Neurologia - Neurofisiopatologia

ITALY

VENETO
PADOVA

Funded by an IRDiRC memberMitCare-2
Venetian Institute of Molecular Medicine
Dulbecco Telethon Institute

SPAIN

Madrid
MADRID

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

UNITED KINGDOM

Greater Manchester
ADDRESS: NOT PROVIDED - UK

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

ITALY

CAMPANIA
NAPOLI

Funded by an IRDiRC memberTelethon Undiagnosed Disease Program - Revised Proposal
TIGEM - Telethon Institute of Genetics and Medicine
Genomic Medicine - Telethon Institute of Genetics and Medicine

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

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

FRANCE

HAUTS-DE-FRANCE
LILLE

ID2STOP Orphan : InDividualized Drug Selection Technology for Orphan Patients
Faculté des Sciences Pharmaceutiques et Biologiques de Lille
APTEEUS: le patient au coeur de la découverte de son traitement

ITALY

LIGURIA
GENOVA

New technologies and new strategies for neonatal screening
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Laboratorio per lo Studio degli Errori Congeniti del Metabolismo

SPAIN

Madrid
MADRID

SWEDEN

Stockholms läns landsting
STOCKHOLM

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

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