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Funded by an IRDiRC member =

    • BELGIUM
    • OOST-VLAANDEREN
    • GENT
    • Long-range genetic defects in human developmental conditons
    • Ghent University Hospital - UZGent
    • Center for Medical Genetics Ghent
    • More details
    • 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
    • More details
    • 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
    • More details
    • CANADA
    • Ontario
    • TORONTO
    • Funded by an IRDiRC member
    • Computerized Patient Phenotyping to Connect Canadian Clinical Genetics Clinics
    • University of Toronto
    • Department of Computer Science
    • More details
    • FINLAND
    • Finland
    • HELSINKI
    • Molecular basis of mitochondrial disorders
    • University of Helsinki
    • Molecular Neurology
    • More details
    • FINLAND
    • Finland
    • HELSINKI
    • Funded by an IRDiRC member
    • Mechanisms and consequences of mitochondrial translation defects
    • University of Helsinki
    • Department of Medical Genetics
    • More details
    • FINLAND
    • Finland
    • TAMPERE
    • Funded by an IRDiRC member
    • Mitochondria, metabolism and disease
    • University of Tampere
    • Institute of Biomedical Technology
    • More details
    • FRANCE
    • ALSACE
    • STRASBOURG
    • Molecular studies on mitochondrial disorders linked to point mutations in tRNA genes
    • IBMC - Institut de biologie moléculaire et cellulaire
    • Architecture et réactivité de l'ARN
    • More details
    • FRANCE
    • AQUITAINE
    • BORDEAUX
    • MITOFOOD: energetic mitochondrial metabolism study, normal and pathological: fundamental and theorical implications
    • Université Bordeaux 2 - Victor Ségalen
    • Physiopathologie mitochondriale
    • More details
    • FRANCE
    • AQUITAINE
    • BORDEAUX
    • Funded by an IRDiRC member
    • DEPLETMITO: influence of the amount of mitochondrial DNA on energy metabolism: implications for mitochondrial diseases
    • Université Bordeaux 2 - Victor Ségalen
    • Physiopathologie mitochondriale
    • More details
    • FRANCE
    • ILE-DE-FRANCE
    • LE KREMLIN-BICÊTRE
    • Biochemistry and genetics of mitochondrial cytopathies
    • GHU Paris-Sud - Hôpital de Bicêtre
    • Service de neuropédiatrie
    • More details
    • FRANCE
    • ILE-DE-FRANCE
    • PARIS
    • Cellular and molecular physiology of mitochondrial diseases
    • Institut Cochin - Faculté de Médecine de Paris Descartes
    • Département mitochondries, bioénergétique, métabolisme et signalisation
    • More details
    • FRANCE
    • PAYS DE LA LOIRE
    • ANGERS
    • Evaluation of high-throughput sequencing microarray technology in mtDNA diseases
    • CHU d'Angers
    • UF de Génétique Moléculaire
    • More details
    • FRANCE
    • PROVENCE-ALPES-COTE D'AZUR
    • MARSEILLE
    • Metabolic myopathies non-invasive exploration
    • CHU de Marseille - Hôpital de la Timone
    • Centre de Résonance Magnétique et Médicale
    • More details
    • GERMANY
    • Baden-Württemberg
    • REUTLINGEN
    • Funded by an IRDiRC member
    • mitoNET: subproject mitoFIBRATE - Testing pharmacological approaches in cell culture
    • Klinikum am Steinenberg
    • Klinik für Kinder- und Jugendmedizin
    • More details
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • Funded by an IRDiRC member
    • mitoNET: subproject mitoMORPH - Establishing the analysis of abnormal mitochondrial fission and fusion in human cells as a new assay to follow and diagnose mitochondrial cytopathies.
    • Hertie-Institut für klinische Hirnforschung (HIH)
    • Abteilung für Neurodegeneration
    • More details
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Funded by an IRDiRC member
    • mitoNET: german Network for mitochondrial diseases - coordination
    • Deutsches MITONET e.V. c/o Dr. Bert Obermaier-Kusser
    • Deutsches MITONET e.V.
    • More details
    • GERMANY
    • Bayern
    • MÜNCHEN
    • New insight in the pathomechanism and therapy of mitochondrial DNA depletion syndrome
    • Friedrich-Baur-Institut
    • Labor für Molekulare Myologie
    • More details
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Funded by an IRDiRC member
    • mitoNET: subproject mitoGENE - High-Throughput-Screening and development of new diagnostic protocols for testing of mitochondropathies
    • Helmholtz Zentrum München
    • Institut für Humangenetik
    • More details
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Funded by an IRDiRC member
    • mitoNET: subproject mitoFIBRATE - Testing pharmacological approaches in cell culture
    • Helmholtz Zentrum München
    • Institut für Humangenetik
    • More details
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Genotype and phenotype investigations in mitochondrial diseases
    • LMU Klinikum der Universität München - Campus Großhadern
    • Arbeitsgruppe Neurogenetik
    • More details
    • GERMANY
    • Bayern
    • MÜNCHEN
    • Funded by an IRDiRC member
    • mitoNET: german Network for mitochondrial diseases - coordination
    • LMU Klinikum der Universität München - Campus Großhadern
    • Arbeitsgruppe Neurogenetik
    • More details
    • GERMANY
    • Berlin
    • BERLIN
    • Genetic Variability of mitochondrial disorders (SFB 577)
    • Otto-Heubner-Centrum für Kinder- und Jugendmedizin
    • Klinik für Pädiatrie mit Schwerpunkt Neurologie
    • More details
    • GERMANY
    • Berlin
    • BERLIN
    • Funded by an IRDiRC member
    • mitoNET: subproject mitoSYSTEM - Using a probabilistic Bayesian network approach towards the diagnose of mitochondrial disease will quantitatively delineate and specify subsets of disease phenotypes, thus facilitating detection of the basic genetic defects
    • Otto-Heubner-Centrum für Kinder- und Jugendmedizin
    • Klinik für Pädiatrie mit Schwerpunkt Neurologie
    • More details
    • GERMANY
    • Hessen
    • FRANKFURT AM MAIN
    • Funded by an IRDiRC member
    • mitoNET: subproject mitoPROT - Developing a simple and highly sensitive assay to quantify the five mitochondrial oxidative phosphorylation complexes from patient samples, and screening the cohort of patients of the consortium by the novel protocol
    • Klinikum der Johann Wolfgang Goethe-Universität Frankfurt
    • Molekulare Bioenergetik
    • More details
    • GERMANY
    • Niedersachsen
    • GÖTTINGEN
    • Clinical and genetic presentation of juvenile mitochondriopathies
    • Universitätsmedizin Göttingen
    • Klinik für Kinder- und Jugendmedizin
    • More details
    • GERMANY
    • Niedersachsen
    • GÖTTINGEN
    • Clinical, morphological and genetic characterisation of unclassified juvenile mitochondrial myopathies
    • Universitätsmedizin Göttingen
    • Klinik für Kinder- und Jugendmedizin
    • More details
    • GERMANY
    • Nordrhein-Westfalen
    • BONN
    • Funded by an IRDiRC member
    • mitoNET: subproject mitoPROP - Propagation mechanisms of mitochondrial DNA mutations in patients with mitochondrial diseases
    • Universitätsklinikum Bonn
    • Klinik für Epileptologie
    • More details
    • GERMANY
    • Nordrhein-Westfalen
    • MÜNSTER
    • Funded by an IRDiRC member
    • mitoNET: subproject mitoHEART - CMR-based diagnosis of cardiac involvement in patients with mitochondrial myopathy
    • Universitätsklinikum Münster
    • Arbeitsgruppe für Kardiovaskuläre Bildgebung
    • More details
    • GERMANY
    • Sachsen
    • LEIPZIG
    • Investigations of molecular mechanisms of mitochondrial biogenesis in vertebrates to gain insight into the relevant pathogenic events in patients presenting with mitochondrial disorders
    • Biotechnologisch-Biomedizinisches Zentrum der Universität Leipzig
    • Molekulare Zelltherapie
    • More details
    • HUNGARY
    • Közép-Magyarország
    • BUDAPEST
    • Investigation of mitochondrial dysfunction with genomic and biochemical analysis
    • Semmelweis University Hospital - Department of Clinical Psychology
    • Institute of Genomic Medicine and Rare Disorders Semmelweis University
    • More details
    • ITALY
    • EMILIA ROMAGNA
    • FERRARA
    • Involvement of mitochondrial proteins in autophagy: a possible link with mitochondrial disorders
    • Università degli Studi di Ferrara
    • Dipartimento di Medicina Sperimentale e Diagnostica
    • More details
    • ITALY
    • LAZIO
    • ROMA
    • Funded by an IRDiRC member
    • Construction of a database for a nation-wide italian collaborative network of mitochondrial
    • IRCCS Ospedale Pediatrico Bambino Gesù
    • Unità di Malattie Neuromuscolari e Neurodegenerative, Laboratorio di Medicina Molecolare
    • More details
    • ITALY
    • LAZIO
    • ROMA
    • The policy of public health genomics in Italy
    • IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
    • Servizio Clinico di Consulenza Genetica
    • More details
    • ITALY
    • LAZIO
    • ROMA
    • Nuclearly encoded mitochondrial protein synthesis factors can cure the respiratory defects due to pathogenetic human equivalent base substitutions in yeast mt tRNA genes
    • Sapienza Università di Roma - Dip. di Biologia e Biotecnologie Charles Darwin
    • Dipartimento di Biologia Cellulare e dello Sviluppo
    • More details
    • 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
    • More details
    • ITALY
    • LOMBARDIA
    • MILANO
    • Center for advanced diagnostic and research on motichondrial neurological disorders of infants
    • Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
    • U.O. di Neurogenetica Molecolare
    • More details
    • ITALY
    • LOMBARDIA
    • MILANO
    • Identification and characterization of nuclear genes responsible for human mitochondrial disorders
    • Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
    • U.O. di Neurogenetica Molecolare
    • More details
    • ITALY
    • LOMBARDIA
    • MILANO
    • Funded by an IRDiRC member
    • MitMed: a multicenter consortium for the identification and characterization of nuclear genes responsible for human mitochondrial disorders
    • Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
    • U.O. di Neurogenetica Molecolare
    • More details
    • ITALY
    • LOMBARDIA
    • MILANO
    • Funded by an IRDiRC member
    • Therapeutic strategies to combat mitochondrial disorders
    • Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
    • U.O. di Neurogenetica Molecolare
    • More details
    • ITALY
    • LOMBARDIA
    • MILANO
    • Funded by an IRDiRC member
    • Study of improving Safety of Lentiviral Gene Transfer
    • IRCCS Ospedale San Raffaele
    • Centro di Genomica, Bioinformatica e Biostatistica - Unità di Genetica Umana e Molecolare
    • More details
    • ITALY
    • LOMBARDIA
    • MILANO
    • Funded by an IRDiRC member
    • Gene therapy strategies for Antigen-specific tolerance induction in vivo
    • Istituto San Raffaele Telethon per la Terapia Genica - TIGET
    • Unità di Ricerca Clinica Pediatrica
    • More details
    • ITALY
    • LOMBARDIA
    • MILANO
    • STEM-HD: molecular mechanisms associated to the mutant in HD-hES cells
    • Università degli Studi di Milano - Scienze Farmacologiche e Biomolecolari
    • Laboratorio di Biologia delle Cellule Staminali
    • More details
    • ITALY
    • TOSCANA
    • PISA
    • Clinical relevance and molecular mechanisms of the skeletal muscle adaptation to aerobic training in mitochondrial myopathies
    • Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
    • Laboratorio di Neurobiologia Clinica e Neurochimica
    • More details
    • ITALY
    • TOSCANA
    • PISA
    • Funded by an IRDiRC member
    • Construction of a database for a nation-wide italian collaborative network of mitochondrial
    • Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
    • Laboratorio di Neurobiologia Clinica e Neurochimica
    • More details
    • ITALY
    • VENETO
    • PADOVA
    • Funded by an IRDiRC member
    • Construction of a database for a nation-wide italian collaborative network of mitochondrial
    • Azienda Ospedaliera Universitaria di Padova - Campus Biomedico Pietro d'Abano
    • Neuromuscular Laboratory
    • More details
    • ITALY
    • VENETO
    • PADOVA
    • Deoxynucleotide pool imbalance, mitochondrial DNA maintenance and disease
    • Università degli Studi di Padova- Polo A.Vallisneri
    • Laboratorio di Biologia Cellulare
    • More details
    • ITALY
    • VENETO
    • PADOVA
    • Deoxynucleotide pool imbalance, mitochondrial DNA maintenance and disease
    • Università degli Studi di Padova- Polo A.Vallisneri
    • Laboratorio di Biologia Cellulare
    • More details
    • ITALY
    • VENETO
    • PADOVA
    • Funded by an IRDiRC member
    • MitMed: a multicenter consortium for the identification and characterization of nuclear genes responsible for human mitochondrial disorders
    • Università degli Studi di Padova- Polo A.Vallisneri
    • Dipartimento di Scienze Biomediche
    • More details
    • ITALY
    • VENETO
    • PADOVA
    • Funded by an IRDiRC member
    • Therapeutic strategies to combat mitochondrial disorders
    • Università degli Studi di Padova- Polo A.Vallisneri
    • Dipartimento di Scienze Biomediche Sperimentali
    • More details
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • EUMITOCOMBAT: rational treatment strategies combating mitochondrial oxidative phosphorylation (OXPHOS) disorders (coordination)
    • Radboudumc - Radboud universitair medisch centrum
    • Nijmegen Centrum voor Mitochondriële Ziekten
    • More details
    • SPAIN
    • Aragón
    • ZARAGOZA
    • Testing the xenoexpression as a gene therapy for mitochondrial diseases
    • Universidad de Zaragoza. Facultad de Ciencias
    • Departamento de Bioquimica y Biologia Molecular y Celular (F. Ciencias)
    • More details
    • SPAIN
    • Aragón
    • ZARAGOZA
    • Funded by an IRDiRC member
    • New mutations in the mitocondrial DNA associated to diseases: characterization in transmitochondrial cybrids differentiated to neurons and myocites
    • Universidad de Zaragoza. Facultad de Veterinaria
    • Departamento de Bioquímica y Biología Molecular y Celular (F. Veterinaria)
    • More details
    • SPAIN
    • Cataluña
    • ESPLUGUES DE LLOBREGAT
    • Funded by an IRDiRC member
    • Mitochondrial encephalomyopathies and secondary coenzyme Q10 deficiencies: Study in pediatric patients, in cellular and murine models
    • Hospital Universitari Sant Joan de Déu
    • Laboratorio de Genética Bioquímica y Rett
    • More details
    • SPAIN
    • Madrid
    • MADRID
    • Using induced pluripotent stem cells (iPS) for the study and treatment of mitochondrial diseases
    • Instituto de Investigaciones Biomédicas "Alberto Sols" (CSIC-UAM)
    • Departamento de Modelos Experimentales de Enfermedades Humanas (Laboratorio de Rafael Garesse Alarcón)
    • More details
    • UNITED KINGDOM
    • Cambridgeshire
    • CAMBRIDGE
    • Funded by an IRDiRC member
    • NIHR BioResource - Rare Disease: SPEED - Specialist Pathology: Evaluating Exomes in Diagnostics
    • Wellcome Trust/MRC Building
    • Cambridge Institute for Medical Research
    • More details
    • UNITED KINGDOM
    • Lothian
    • EDINBURGH
    • Genetic disorders of human brain development
    • Western General Hospital
    • MRC Human Genetics Unit
    • More details
    • UNITED KINGDOM
    • Tyne & Wear
    • NEWCASTLE UPON TYNE
    • New insight in the pathomechanism and therapy of mitochondrial DNA depletion syndrome
    • International Centre for Life
    • Institute of Genetic Medicine
    • More details
    • UNITED KINGDOM
    • Tyne & Wear
    • NEWCASTLE UPON TYNE
    • Prevention of transmission of mitochondrial DNA disease
    • Newcastle University Institute for Ageing (NUIA), Newcastle Biomedicine
    • Wellcome Trust Centre for Mitochondrial Research (Institute of Neuroscience)
    • More details
    • UNITED KINGDOM
    • Tyne & Wear
    • NEWCASTLE UPON TYNE
    • Laboratory investigation and diagnosis of patients with mitochondrial disease
    • Wellcome Trust Centre for Mitochondrial Research
    • Newcastle Mitochondrial Diagnostic Laboratory
    • More details
    • UNITED KINGDOM
    • West Midlands
    • BIRMINGHAM
    • NIPSIGEN - Clinical translation of non-invasive prenatal diagnosis (NIPD) for single gene disorders (Health Innovation Challenge Fund)
    • Birmingham Women's NHS Foundation Trust
    • Regional Genetics Unit
    • More details