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77 Resultaat/Resultaten
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Onderzoeksprojecten
ITALIË
LAZIO
ROMA
Stabilization of tRNAs as a therapeutic strategy for diseases due to mutations in mt-tRNAs
Sapienza Università di Roma - Facoltà di Medicina e Chirurgia
Dipartimento di Scienze Radiologiche, Oncologiche ed Anatomo Patologiche
ITALIË
LOMBARDIA
MILANO
Mitochondrial aminoacyl tRNA synthetases: implementation of the genetic diagnosis and evaluation of amino acid supplementation as potential therapeutic approach
Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
U.O. di Neurogenetica Molecolare
USA
Washington
ADDRESS: NOT PROVIDED - US
Project #2 - approaches to treating mtdna-based mitochondrial disease
Institution: Information not provided - US
IERLAND
County Dublin
DUBLIN
Conformational triggers, Mechanisms and Pathways for Neurodegenerative Disease
Trinity College Dublin
Institute of Neuroscience
PORTUGAL
NORTE
PORTO
SPATAX: Clinical and Genetic Analysis of Cerebellar Ataxias and Spastic Paraplegias
Instituto de Biologia Molecular e Celular
Centro de Genética Preditiva e Preventiva
PORTUGAL
NORTE
PORTO
Clinical implications of genetic factors causing neurodegenerative diseases characterized by movement or cognitive dysfunction.
Instituto de Biologia Molecular e Celular
Unidade de Investigação Genética e Epidemiológica em Doenças Neurológicas
PORTUGAL
NORTE
PORTO
Mapping and identification of new disease genes in autosomal dominant spinocerebellar ataxias
Instituto de Biologia Molecular e Celular
Unidade de Investigação Genética e Epidemiológica em Doenças Neurológicas
PORTUGAL
NORTE
PORTO
SPATAX: Clinical and Genetic Analysis of Cerebellar Ataxias and Spastic Paraplegias
Instituto de Biologia Molecular e Celular
Unidade de Investigação Genética e Epidemiológica em Doenças Neurológicas
PORTUGAL
NORTE
SANTA MARIA DA FEIRA
SPATAX: Clinical and Genetic Analysis of Cerebellar Ataxias and Spastic Paraplegias
Hospital São Sebastião
Serviço de Neurologia
SPANJE
Andalucía
SEVILLA
Pathophysiology and therapeutic strategies in mitochondrial diseases using patient-specific induced neurons generated by direct reprograming
Centro Andaluz de Biología del Desarrollo (CABD)
Grupo de Biología celular y Biotecnología
SPANJE
Cataluña
BARCELONA
Functional validation studies of genetic variants in mitochondrial and nuclear genome in patients with mitochondrial diseases
Vall d'Hebron Institut de Recerca VHIR
Grupo de investigación en patología neuromuscular y mitocondrial
SPANJE
Comunidad Valenciana
VALENCIA
Clinical studies, genetic bases and prognostic biomarkers in rare neurodegenerative diseases
Centro de Investigación Príncipe Felipe (CIPF)
Unidad de Genética y Genómica de Enfermedades Neuromusculares y Neurodegenerativas
VERENIGD KONINKRIJK
Greater London
LONDON
Endogenous Cerebellar Human Stem Cells and their Potential Neuroregenerative Role in Inherited Ataxias
Barts and The London School of Medicine and Dentistry
Centre for Neuroscience and Trauma
VERENIGD KONINKRIJK
Lothian
EDINBURGH
Developing non-invasive therapeutic technology to improve motor coordination in cerebellar ataxias
PMARC - The University of Edinburgh
Perception-Movement-Action Research Consortium
VERENIGD KONINKRIJK
Lothian
EDINBURGH
Developing non-invasive therapeutic technology to improve motor coordination in cerebellar ataxias
School of Informatics, The University of Edinburgh
Human Communication Research Centre
SPANJE
Madrid
MADRID
Clinical-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
USA
Arizona
PHOENIX
The etiology of inherited neurological diseases
Phoenix Children's Hospital
Barrow Neurological Institute
CANADA
Alberta
CALGARY
Muscle rehabilitation of cerebral palsy patients recieving botulinum toxin type-A (Botox) treatments
University of Calgary
Faculty of Kinesiology
DUITSLAND
Bayern
MÜNCHEN
mitoNET: subproject mitoVALID - Development of a platform for functional validation in diagnostics
Institut für Humangenetik der TU München
Institut für Humangenetik
DUITSLAND
Bayern
MÜNCHEN
mitoNET: subproject mitoSAMPLE - Collection of biological materials for network partners
Institut für Humangenetik der TU München
Institut für Humangenetik
DUITSLAND
Niedersachsen
GÖTTINGEN
Clinical and genetic presentation of juvenile mitochondriopathies
Universitätsmedizin Göttingen
Klinik für Kinder- und Jugendmedizin
FINLAND
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
FINLAND
Finland
HELSINKI
Mitochondrial 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
Molecular Thermobiology of Mitochondria
Tampere University
Faculty of Medicine and Health Technology
FRANKRIJK
AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
Abnormal mitoribosomal biogenesis and protein maturation in human mitochondrial diseases.
Institution: Information not provided - FR
FRANKRIJK
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)
HONGARIJE
Közép-Magyarország
BUDAPEST
Investigation of mitochondrial dysfunction with genomic and biochemical analysis
Institute of Genomic Medicine and Rare Disorders, Semmelweis University
Genetics Laboratory
ITALIË
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
JAPAN
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
SPANJE
Madrid
MADRID
RAREGenomics: Network of Genomic, Functional, Clinical and Therapeutic Resources for the Study of Rare Neurological Diseases
Hospital Universitario Fundación Jiménez Díaz
Servicio de Genética Clínica
CANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute
FRANKRIJK
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
FRANKRIJK
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
ITALIË
LAZIO
ROMA
Diverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
JAPAN
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
JAPAN
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
JAPAN
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
SPANJE
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
SPANJE
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
USA
Washington
ADDRESS: NOT PROVIDED - US
A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US
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
ITALIË
LAZIO
ROMA
The Italian Expanded newborn screening program
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
USA
Washington
ADDRESS: NOT PROVIDED - US
Basic and clinical studies in immune function and metabolism
Institution: Information not provided - US
USA
Washington
ADDRESS: NOT PROVIDED - US
Metabolic engineering in humans: altered gut microbes as a therapeutic platform
Institution: Information not provided - US
ZWEDEN
Region Stockholm
STOCKHOLM
Inborn errors of endocrinology and metabolism
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery
ZWITSERLAND
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
Multicentrische onderzoeksprojecten
- Institut für Medizinische Genetik und angewandte Genomik Tübingen
- Institut für Medizinische Genetik und angewandte Genomik
- Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
- Equipe "Bases moléculaires, physiopathologie et traitement des maladies neurodégénératives"
- Fondazione EBRI
- Istituto di Neurobiologia e Medicina Molecolare
- Institut für Medizinische Genetik und angewandte Genomik Tübingen
- Institut für Medizinische Genetik und angewandte Genomik
- Radboudumc - Radboud universitair medisch centrum
- Radboud Centrum voor Mitochondriële Geneeskunde
- 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
- CHU d'Angers
- UF de Biologie Moléculaire
- AZM - Academisch Ziekenhuis Maastricht
- Laboratorium Clinical Genomics
- Instituto de Investigación Hospital 12 de Octubre
- Grupo de investigación en enfermedades raras, mitocondriales y neuromusculares
- University of British Columbia
- Maternal Infant Child and Youth Research Network
- Muséum National d'Histoire Naturelle
- Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196
- Institut de Recherche en Santé - Université de Nantes
- L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291
- IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
- Servizio Clinico di Consulenza Genetica
- Hospital Universitari de Bellvitge
- Unidad de Neuropatología
- Camden Mews Day Hospital
- North Thames DeNDRoN, Camden & Islington Mental Health Trust
- Wythenshawe Hospital
- Dementias & Neurodegenerative Diseases Research Network
- Moorgreen Hospital
- Memory & Assessment & Research Centre
- Julian Hospital
- Churchill Hospital
- Fulbrook Centre
- St Martin's Hospital
- Research Institute for the Care of the Elderly (RICE)
- Newcastle General Hospital
- Wolfson Research Centre
- University of Ottawa
- Faculty of Medicine -
- Institut Fédératif de Biologie
- Laboratoire de Biochimie
- Alzheimer Europe Office
- Oxford University Begbroke Science Park
- Zyoxel Limited
- The Sheffield Children's Hospital
- Department of Clinical Chemistry
- Max-Planck-Institut für experimentelle Medizin
- Abteilung Molekulare Neurobiologie
DUITSLAND
Baden-Württemberg
TÜBINGEN
EUROSCA: European integrated project on spinocerebellar ataxias (FINISHED)
FRANKRIJK
ILE-DE-FRANCE
PARIS
SPATAX: European network for hereditary spinocerebellar degenerative disorders
ITALIË
LAZIO
ROMA
ITASPA: clinical and genetic analysis of spastic paraplegias
DUITSLAND
Baden-Württemberg
TÜBINGEN
Neuromics: Integrated European -omics research project for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases
NEDERLAND
Gelderland
NIJMEGEN
EUMITOCOMBAT: rational treatment strategies combating mitochondrial oxidative phosphorylation (OXPHOS) disorders (TERMINATED)
DUITSLAND
Bayern
MÜNCHEN
GENOMIT: Mitochondrial disorders - Connecting Biobanks, Empowering Genetic Diagnostics and Exploring Disease Models
DUITSLAND
Bayern
MÜNCHEN
GENOMIT: Mitochondrial Disorders: from a genome-wide Registry to medical genomics, toward molecular mechanisms and new therapies
DUITSLAND
Bayern
MÜNCHEN
GENOMIT- Mitochondrial Disorders: from a pan-European Registry to medical genetics, toward molecular mechanisms and new therapeutic options
FRANKRIJK
PAYS DE LA LOIRE
ANGERS
French network on mitochondrial diseases
NEDERLAND
Limburg
MAASTRICHT
MITOCIRCLE: mitochondrial diseases: from bedside to genome to bedside (FINISHED)
SPANJE
Madrid
MADRID
Network for clinical and epidemiological study on mitocondrial respiratory chain diseases in Spain (FINISHED)
CANADA
Colombie-Britannique
VANCOUVER
Maternal Infant Child and Youth Research Network (MICYRN)
FRANKRIJK
ILE-DE-FRANCE
PARIS
STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy
FRANKRIJK
PAYS DE LA LOIRE
NANTES
FROGH : FRench Regional Origins in Genetics for Health
ITALIË
LAZIO
ROMA
UnRareNet: a muticenter collaborative research network for the identification and study of rare undiagnosed patients (completed)
SPANJE
Cataluña
L'HOSPITALET DE LLOBREGAT
CIEN: Spanish Network for Cooperative Research in Neurological diseases
VERENIGD KONINKRIJK
Greater London
LONDON
DENDRON - north Thames region: Dementias & Neurodegenerative Diseases Research Network
VERENIGD KONINKRIJK
Greater Manchester
MANCHESTER
DENDRON - north west region: Dementias & Neurodegenerative Diseases Research Network
VERENIGD KONINKRIJK
Hampshire
SOUTHAMPTON
DENDRON - south coast region: Dementias & Neurodegenerative Diseases Research Network
VERENIGD KONINKRIJK
Norfolk
NORWICH
DENDRON - east Anglia region: Dementias & Neurodegenerative Diseases Research Network
VERENIGD KONINKRIJK
Oxfordshire
OXFORD
DENDRON - Thames valley region: Dementias & Neurodegenerative Diseases Research Network
VERENIGD KONINKRIJK
Somerset
BATH
DENDRON - south west region: Dementias & Neurodegenerative Diseases Research Network
VERENIGD KONINKRIJK
Tyne & Wear
NEWCASTLE UPON TYNE
DENDRON - north east region: Dementias & Neurodegenerative Diseases Research Network
CANADA
Ontario
OTTAWA, ONTARIO
CIMDRN- Canadian Inherited Metabolic Diseases Research Network
FRANKRIJK
OCCITANIE
TOULOUSE
Réseau Sud-Ouest des erreurs innées du métabolisme
LUXEMBURG
LUXEMBOURG
LUXEMBOURG
Alzheimer Europe: European database on rare forms of dementia
VERENIGD KONINKRIJK
Oxfordshire
BEGBROKE
TissueGEN: THE PRODUCTION OF A 3D HUMAN TISSUE DISEASE PLATFORM TO ENABLE REGENERATIVE MEDICINE THERAPY DEVELOPMENT
VERENIGD KONINKRIJK
South Yorkshire
SHEFFIELD
MetBioNet - National Metabolic Biochemistry Network
DUITSLAND
Niedersachsen
GÖTTINGEN