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Progetti di ricerca
FINLANDIA
Finland
HELSINKI
The role of polyamine metabolism and NAD+-dependent enzymes, sirtuins and poly(ADP-ribose) polymerases, in diseases characterized with mitochondrial dysfunction
University of Helsinki
Stem Cells and Metabolism Research Program
FINLANDIA
Finland
HELSINKI
Mitochondrial 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
Molecular Thermobiology of Mitochondria
Tampere University
Faculty of Medicine and Health Technology
FRANCIA
AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
Abnormal mitoribosomal biogenesis and protein maturation in human mitochondrial diseases.
Institution: Information not provided - FR
FRANCIA
NOUVELLE AQUITAINE
BORDEAUX
Ubinergy: Control of mitochondrial energy metabolism by the ubiquitin/proteasome system
CHU de Bordeaux-GH Pellegrin
Laboratoire Maladies Rares : Génétique et Métabolisme (MRGM)
GERMANIA
Bayern
MÜNCHEN
mitoNET: subproject mitoVALID - Development of a platform for functional validation in diagnostics
Institut für Humangenetik der TU München
Institut für Humangenetik
GERMANIA
Bayern
MÜNCHEN
mitoNET: subproject mitoSAMPLE - Collection of biological materials for network partners
Institut für Humangenetik der TU München
Institut für Humangenetik
GERMANIA
Niedersachsen
GÖTTINGEN
Clinical and genetic presentation of juvenile mitochondriopathies
Universitätsmedizin Göttingen
Klinik für Kinder- und Jugendmedizin
GIAPPONE
JAPAN
CHIBA
The creation of evidence which lead to medical practice with a view to revision of manuals/guideline of mitochondrial disease
Chiba Cancer Center Research Institute
ITALIA
LOMBARDIA
MILANO
Identificazione e caratterizzazione di geni nucleari responsabili di malattie mitocondriali umane
Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
U.O. di Neurogenetica Molecolare
SPAGNA
Cataluña
BARCELONA
Development of a platform to demonstrate the pathogenicity of variants of uncertain significance and new disease-causing genes in patients with disorders of mitochondrial energy metabolism
Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS)
Grupo de investigación en enfermedades metabólicas hereditarias
UNGHERIA
Közép-Magyarország
BUDAPEST
Investigation of mitochondrial dysfunction with genomic and biochemical analysis
Institute of Genomic Medicine and Rare Disorders, Semmelweis University
Genetics Laboratory
SPAGNA
Asturias
OVIEDO
Reclassification of variants of uncertain significance in hypertrophic myocardiopatia: genetic variation in a cohort, control and analysis of the transcriptome
Hospital Universitario Central de Asturias
Laboratorio de Genética
SPAGNA
Cataluña
BARCELONA
Minority diseases causing basal ganglia degeneration in pediatrics: combined implementation of genomic and biomarker analysis
Vall d'Hebron Institut de Recerca VHIR
Grupo de investigación en neurología pediátrica
SVEZIA
Region Västerbotten
UMEÅ
Familial long QT syndrome and familial hypertrophic cardiomyopathy in Sweden: clinical, molecular, genetic and experimental studies
University Hospital of Umeå
Department of Public Health and Clinical Medicine
FRANCIA
AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
Bcl11b/CTIP2, a transcriptional repressor: its role in cardiac homeostasis and remodeling
Institution: Information not provided - FR
FRANCIA
ILE-DE-FRANCE
PARIS
Predictive genetic testing in hereditary cardiac diseases: Evaluation of psycho-social impact and multidisciplinary management
APHP.Sorbonne Université, Hôpital de la Pitié-Salpêtrière
Départements de génétique et de cardiologie - Centre de référence des maladies cardiaques héréditaires
FRANCIA
ILE-DE-FRANCE
PARIS
Structural studies of cardiac myosin for therapeutical approaches against HCM
CLCC Institut Curie
Motilité structurale
GIAPPONE
JAPAN
TOKYO
Development of novel disease-causing gene based therapies for cardiomyopathies
Tokyo Medical and Dental University Medical Research Institute
CANADA
Ontario
OTTAWA
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
Emerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
University of Ottawa
Department of Epidemiology and Community Medicine
CANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute
FRANCIA
AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
Targets for heart regeneration : mechanisms controlling cardiomyocyte proliferation
Institution: Information not provided - FR
FRANCIA
AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
Mechanosensitive ionic channels in zebrafish heart regeneration
Institution: Information not provided - FR
FRANCIA
AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
Evaluation of FGF10 as a target for promoting adult cardiomyocyte proliferation after heart injury
Institution: Information not provided - FR
FRANCIA
ILE-DE-FRANCE
PARIS
STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy - FR
Muséum National d'Histoire Naturelle
Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196
FRANCIA
PAYS DE LA LOIRE
NANTES
FROGH : 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
GIAPPONE
JAPAN
AICHI
Management ofthe clinical diagnostic centre for rare intractable diseases with genome instability and development of potential therapeutic medicine
Research Institute of Environmental Medicine, Nagoya University
GIAPPONE
JAPAN
AICHI
Establishment of the Next-generation Muti-omics Clinical Diagnostic Centre for rare intractable diseases with genome instability
Research Institute of Environmental Medicine, Nagoya University
GIAPPONE
JAPAN
TOKYO
Formation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute
ITALIA
LAZIO
ROMA
Programma Italiano per lo screening neonatale esteso
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
SPAGNA
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
SPAGNA
Madrid
MADRID
Bioinformatics developments based on network and systems biology to identify new candidate genes for rare genetic diseases
Fundación Jiménez Díaz
Área de Genética y Genómica
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Basic and clinical studies in immune function and metabolism
Institution: Information not provided - US
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Metabolic engineering in humans: altered gut microbes as a therapeutic platform
Institution: Information not provided - US
SVEZIA
Region Stockholm
STOCKHOLM
Inborn errors of endocrinology and metabolism
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery
SVIZZERA
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
Progetti di ricerca multicentrici
- CHU d'Angers
- UF de Biologie Moléculaire
- Institut für Humangenetik der TU München
- Institut für Humangenetik
- Institut für Humangenetik der TU München
- Institut für Humangenetik
- Institut für Humangenetik der TU München
- Institut für Humangenetik
- AZM - Academisch Ziekenhuis Maastricht
- Laboratorium Clinical Genomics
- John Radcliffe Hospital
- Department of Cardiovascular Medicine
- University of British Columbia
- Maternal Infant Child and Youth Research Network
- University of Ottawa
- Faculty of Medicine -
- Muséum National d'Histoire Naturelle
- Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196
- Institut Fédératif de Biologie
- Laboratoire de Biochimie
- Institut de Recherche en Santé - Université de Nantes
- L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291
- Oxford University Begbroke Science Park
- Zyoxel Limited
- CHU Paris IdF Ouest - HEGP Hôpital Européen Georges Pompidou
- Thérapie cellulaire en pathologie cardiovasculaire
FRANCIA
PAYS DE LA LOIRE
ANGERS
French network on mitochondrial diseases
GERMANIA
Bayern
MÜNCHEN
GENOMIT: Mitochondrial disorders - Connecting Biobanks, Empowering Genetic Diagnostics and Exploring Disease Models
GERMANIA
Bayern
MÜNCHEN
GENOMIT: Mitochondrial Disorders: from a genome-wide Registry to medical genomics, toward molecular mechanisms and new therapies
GERMANIA
Bayern
MÜNCHEN
GENOMIT- Mitochondrial Disorders: from a pan-European Registry to medical genetics, toward molecular mechanisms and new therapeutic options
PAESI BASSI
Limburg
MAASTRICHT
MITOCIRCLE: mitochondrial diseases: from bedside to genome to bedside (FINISHED)
REGNO UNITO; GRAN BRETAGNA
Oxfordshire
OXFORD
BIG-HEART: bench-to-beside integrated approach to familial hypertrophic cardiomyopathy: to the heart of the disease (coordination)
CANADA
Colombie-Britannique
VANCOUVER
Maternal Infant Child and Youth Research Network (MICYRN)
CANADA
Ontario
OTTAWA, ONTARIO
CIMDRN- Canadian Inherited Metabolic Diseases Research Network
FRANCIA
ILE-DE-FRANCE
PARIS
STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy
FRANCIA
OCCITANIE
TOULOUSE
Réseau Sud-Ouest des erreurs innées du métabolisme
FRANCIA
PAYS DE LA LOIRE
NANTES
FROGH : FRench Regional Origins in Genetics for Health
REGNO UNITO; GRAN BRETAGNA
Oxfordshire
BEGBROKE
TissueGEN: THE PRODUCTION OF A 3D HUMAN TISSUE DISEASE PLATFORM TO ENABLE REGENERATIVE MEDICINE THERAPY DEVELOPMENT
FRANCIA
ILE-DE-FRANCE
PARIS