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Projetos de investigação
ALEMANHA
Niedersachsen
GÖTTINGEN
Neurodegenerative disorders with onset in childhood and adolescence ('childhood dementia') - major causes and therapy approaches
Universitätsmedizin Göttingen
Klinik für Kinder- und Jugendmedizin
CANADA
Québec
SHERBROOKE
Clinical exome sequencing for molecular diagnosis of polymalformative syndromes
CIUSSS de l'Estrie - CHUS Fleurimont
Service de génétique médicale
ESPANHA
Cataluña
ESPLUGUES DE LLOBREGAT
Translational diagnostics program for undiagnosed and rare diseases: bringing together clinical phenotype, genome, and biological function and structure
Hospital Sant Joan de Déu Barcelona
Servicio de Medicina Genética y Molecular
ESPANHA
Comunidad Valenciana
VALENCIA
Genotypical and phenotypical characterization in a series of patients with late-onset hereditary neuropathies
Hospital Universitario y Politécnico La Fe
Unidad de Patología Neuromuscular
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
A resource for mouse models of peripheral neuropathy
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Project #2 - approaches to treating mtdna-based mitochondrial disease
Institution: Information not provided - US
FINLANDIA
Finland
HELSINKI
Genetic causes of axon degeneration diseases; axonal Charcot-Marie-Tooth neuropathy (CMT2) and hereditary spastic paraplegia
University of Helsinki
Stem Cells and Metabolism Research Program
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
Neurofilaments in Health and Charcot-Marie-Tooth diseases
Hôpital Saint Eloi - Bâtiment INM
Equipe "Génétique et thérapie des cécités rétiniennes et du nerf optique"
FRANCA
PAYS DE LA LOIRE
NANTES
Pre-clinical and clinical development of IFB-088, a new chemical entity to treat Charcot-Marie-Tooth disease
InFlectis BioScience
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
Misglycosylation in Charcot-Marie-Tooth neuropathies associated to MPZ mutations
Institution: Information not provided - IT
ITALIA
EMILIA ROMAGNA
ADDRESS: NOT PROVIDED - IT
Upper Limbs evaluation in hereditary NeuropAthies: the ULNA project
Institution: Information not provided - IT
ITALIA
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
ITALIA
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
ITALIA
LOMBARDIA
MILANO
Targeting 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
The role of axonal metabolic changes in the pathophysiology of Charcot-Marie-Tooth disease
Institution: Information not provided - SE
ESPANHA
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
ESPANHA
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
ESPANHA
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
FRANCA
AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
Genetic fragmentation of the hereditary optic neuropathy nonsyndromic autosomal recessive and dominant
Institution: Information not provided - FR
FRANCA
PAYS DE LA LOIRE
ANGERS
Therapy of energy deficiency in models of hereditary optic neuropathy
CHU d'Angers
Service de génétique
ITALIA
LAZIO
ROMA
Diverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
ALEMANHA
Baden-Württemberg
TÜBINGEN
TreatHSP-Net: Network for translational research on hereditary spastic paraplegia -coordination
Hertie-Institut für klinische Hirnforschung (HIH)
Abteilung Neurologie mit Schwerpunkt neurodegenerative Erkrankungen
ALEMANHA
Baden-Württemberg
TÜBINGEN
TreatHSP-Net: The 'diagnostic gap' in HSP - non-coding variants in known HSP genes
Hertie-Institut für klinische Hirnforschung (HIH)
Abteilung Neurologie mit Schwerpunkt neurodegenerative Erkrankungen
ALEMANHA
Baden-Württemberg
TÜBINGEN
TreatHSP-Net: The 'diagnostic gap' in HSP - non-coding variants in known HSP genes
Institut für Medizinische Genetik und angewandte Genomik Tübingen
Institut für Medizinische Genetik und angewandte Genomik
ALEMANHA
Bayern
ERLANGEN
TreatHSP-Net: Sensor-based monitoring of gait disorder in HSP patients with implementation in everyday life
Universitätsklinikum Erlangen - Kopfkliniken
Abteilung für Molekulare Neurologie
ALEMANHA
Bayern
REGENSBURG
TreatHSP-Net: Sensor-based monitoring of gait disorder in HSP patients with implementation in everyday life
medbo Bezirksklinikum Regensburg
Klinik und Poliklinik für Neurologie der Universität Regensburg
ALEMANHA
Nordrhein-Westfalen
ESSEN
TreatHSP-Net: Development and validation of patient- and reference person-oriented outcome parameters at HSP
Universitätsklinikum Essen
Klinik für Neurologie
ALEMANHA
Thüringen
JENA
TreatHSP-Net: Metabolomic investigations of selected mouse models for hereditary spastic paraplegia (HSP)
Institut für Humangenetik am Universitätsklinikum Jena
Institut für Humangenetik
AUSTRIA
TIROL
INNSBRUCK
Phenotypes, Biomarkers and Pathophysiology in Hereditary Spastic Paraplegias and Related Disorders - AT
Medizinische Universität Innsbruck
Universitätsklinik für Neurologie
CANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute
CANADA
Québec
MONTRÉAL
Emerging Team to identify and characterize novel and existing Hereditary Spastic Paraplegia (HSP) disease genes
CHUM Research Centre
Centre d'excellence en neuroscience de l'Université de Montréal
ESPANHA
Cataluña
L'HOSPITALET DE LLOBREGAT
Improving diagnostic yield and discovering novel genes causing hereditary spastic paraplegias and motor neuropathies using long-read genome, transcriptomics, and functional genomics/metabolomic approaches
IDIBELL - Instituto de Investigación Biomédica de Bellvitge
Laboratorio de Enfermedades Neurometabólicas
ESPANHA
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
ESPANHA
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
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US
FRANCA
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
FRANCA
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
JAPAO
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
JAPAO
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
JAPAO
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
PORTUGAL
NORTE
PORTO
SPATAX: Análises Clínicas e Genética de Ataxias Cerebelares e Paraparésias Espásticas
Instituto de Biologia Molecular e Celular
Centro de Genética Preditiva e Preventiva
PORTUGAL
NORTE
PORTO
SPATAX: Análises Clínicas e Genética de Ataxias Cerebelares e Paraparésias Espásticas
Instituto de Biologia Molecular e Celular
Unidade de Investigação Genética e Epidemiológica em Doenças Neurológicas
PORTUGAL
NORTE
SANTA MARIA DA FEIRA
SPATAX: Análises Clínicas e Genética de Ataxias Cerebelares e Paraparésias Espásticas
Hospital São Sebastião
Serviço de Neurologia
REINO UNIDO
Cambridgeshire
CAMBRIDGE
Modeling spastic paraplegia gene molecular function and pathology in Drosophila
Department of Genetics - University of Cambridge
Department of Genetics
ALEMANHA
Bayern
MÜNCHEN
mitoNET: subproject mitoVALID - Development of a platform for functional validation in diagnostics
Institut für Humangenetik der TU München
Institut für Humangenetik
ALEMANHA
Bayern
MÜNCHEN
mitoNET: 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
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
FRANCA
AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
Abnormal mitoribosomal biogenesis and protein maturation in human mitochondrial diseases.
Institution: Information not provided - FR
FRANCA
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)
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
Identification and characterization of nuclear genes responsible for human mitochondrial disorders
Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
U.O. di Neurogenetica Molecolare
JAPAO
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
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
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
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Basic and clinical studies in immune function and metabolism
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Metabolic engineering in humans: altered gut microbes as a therapeutic platform
Institution: Information not provided - US
ITALIA
LAZIO
ROMA
The 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
- Institut für Medizinische Genetik und angewandte Genomik Tübingen
- Institut für Medizinische Genetik und angewandte Genomik
- HSK, Dr. Horst Schmidt Kliniken GmbH
- Zentrum für Seltene Erkrankungen (ZSE) Wiesbaden
- Max-Planck-Institut für experimentelle Medizin
- Abteilung Neurogenetik
- ISCIII - Instituto de Salud Carlos III
- Centro de Investigación Biomédica en Red de Enfermedades Raras
- Centro de Regulación Genómica
- Programa Genes y Enfermedad
- Hospital Universitari de Bellvitge
- Unidad de Neuropatología
- CHU d'Angers
- Service de génétique
- CHU d'Angers
- INSERM U 694 - Laboratoire de biochimie
- TIGEM - Telethon Institute of Genetics and Medicine
- Laboratorio di Ricerca
- A.O.U. Policlinico "G. Martino"
- U.O. di Neuropsichiatria Infantile - Dipartimento di Scienze Pediatriche
- Radboudumc - Radboud universitair medisch centrum
- Afdeling Genetica
- Hertie-Institut für klinische Hirnforschung (HIH)
- Abteilung Neurologie mit Schwerpunkt neurodegenerative Erkrankungen
- University of British Columbia
- Maternal Infant Child and Youth Research Network
- Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
- Equipe "Bases moléculaires, physiopathologie et traitement des maladies neurodégénératives"
- 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
- Parc scientifique et technologiques de Luminy
- Trophos SA
- IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
- Servizio Clinico di Consulenza Genetica
- IRCCS Ospedale San Raffaele
- Centro di Genomica, Bioinformatica e Biostatistica - Unità di Genetica Umana e Molecolare
- Radboudumc - Radboud universitair medisch centrum
- Radboud Centrum voor Mitochondriële Geneeskunde
- Birmingham Women's NHS Foundation Trust
- Medical and Molecular Genetics, Norton Court
- University of Birmingham
- Department of Medical and Molecular Genetics
- 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
- Instituto de Investigación Hospital 12 de Octubre
- Grupo de investigación en enfermedades raras, mitocondriales y neuromusculares
- CHU d'Angers
- UF de Biologie Moléculaire
- AZM - Academisch Ziekenhuis Maastricht
- Laboratorium Clinical Genomics
- University of Ottawa
- Faculty of Medicine -
- Institut Fédératif de Biologie
- Laboratoire de Biochimie
- Oxford University Begbroke Science Park
- Zyoxel Limited
- The Sheffield Children's Hospital
- Department of Clinical Chemistry
- EEIG - EUROPEAN VISION INSTITUTE
- EUROPEAN VISION INSTITUTE
ALEMANHA
Baden-Württemberg
TÜBINGEN
Neuromics: Integrated European -omics research project for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases
ALEMANHA
Hessen
WIESBADEN
InNerMeD-I-Network: Inherited NeuRoMetabolic Diseases Information Network
ALEMANHA
Niedersachsen
GÖTTINGEN
CMT-NRG: Modulation of Neuregulin signaling as an effective strategy to treat hereditary neuropathies (Charcot-Marie-Tooth disease)
ESPANHA
Madrid
MADRID
TREAT-CMT: Traslational Research, Experimental Medicine and Therapeutics of Charcot-Marie-Tooth Disease (coordination)
ESPANHA
Cataluña
BARCELONA
RGPG: Genotyping and Psychiatric Genetics Network (FINISHED)
ESPANHA
Cataluña
L'HOSPITALET DE LLOBREGAT
CIEN: Spanish Network for Cooperative Research in Neurological diseases
FRANCA
PAYS DE LA LOIRE
ANGERS
ERMION: European research project on Medelian inherited optic neuropathy
FRANCA
PAYS DE LA LOIRE
ANGERS
Réseau national d'étude des atrophies optiques dominantes
ITALIA
CAMPANIA
NAPOLI
AAVEYE: gene therapy for inherited severe photoreceptor diseases
ITALIA
SICILIA
MESSINA
CHERISH: improving diagnoses of mental retardation in children in Central Eastern Europe and Central Asia through genetic characterisation and bioinformatics/biostatistics
PAISES BAIXOS
Gelderland
NIJMEGEN
GENCODYS: Genetic and Epigenetic Networks in Cognitive Dysfunction (Terminated)
ALEMANHA
Baden-Württemberg
TÜBINGEN
TreatHSP-Net: Network for translational research on hereditary spastic paraplegia
CANADA
Colombie-Britannique
VANCOUVER
Maternal Infant Child and Youth Research Network (MICYRN)
FRANCA
ILE-DE-FRANCE
PARIS
EUROSPA: European & Mediterranean network on spastic paraplegias
FRANCA
ILE-DE-FRANCE
PARIS
STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy
FRANCA
PAYS DE LA LOIRE
NANTES
FROGH : FRench Regional Origins in Genetics for Health
FRANCA
PROVENCE-ALPES-COTE D'AZUR
MARSEILLE
MITOTARGET: mitochondrial dysfunction in neurodegenerative diseases: towards new therapeutics
ITALIA
LAZIO
ROMA
UnRareNet: a muticenter collaborative research network for the identification and study of rare undiagnosed patients (completed)
ITALIA
LOMBARDIA
MILANO
SPASTICMODELS: genetic models of chronic neuronal degeneration causing hereditary spastic paraplegia
PAISES BAIXOS
Gelderland
NIJMEGEN
EUMITOCOMBAT: rational treatment strategies combating mitochondrial oxidative phosphorylation (OXPHOS) disorders (TERMINATED)
REINO UNIDO
West Midlands
BIRMINGHAM
National Autozygosity Mapping Resource
REINO UNIDO
West Midlands
BIRMINGHAM
National Autozygosity Mapping Resource
ALEMANHA
Bayern
MÜNCHEN
GENOMIT: Mitochondrial disorders - Connecting Biobanks, Empowering Genetic Diagnostics and Exploring Disease Models
ALEMANHA
Bayern
MÜNCHEN
GENOMIT: Mitochondrial Disorders: from a genome-wide Registry to medical genomics, toward molecular mechanisms and new therapies
ALEMANHA
Bayern
MÜNCHEN
GENOMIT- Mitochondrial Disorders: from a pan-European Registry to medical genetics, toward molecular mechanisms and new therapeutic options
ESPANHA
Madrid
MADRID
Network for clinical and epidemiological study on mitocondrial respiratory chain diseases in Spain (FINISHED)
FRANCA
PAYS DE LA LOIRE
ANGERS
French network on mitochondrial diseases
PAISES BAIXOS
Limburg
MAASTRICHT
MITOCIRCLE: mitochondrial diseases: from bedside to genome to bedside (FINISHED)
CANADA
Ontario
OTTAWA, ONTARIO
CIMDRN- Canadian Inherited Metabolic Diseases Research Network
FRANCA
OCCITANIE
TOULOUSE
Réseau Sud-Ouest des erreurs innées du métabolisme
REINO UNIDO
Oxfordshire
BEGBROKE
TissueGEN: THE PRODUCTION OF A 3D HUMAN TISSUE DISEASE PLATFORM TO ENABLE REGENERATIVE MEDICINE THERAPY DEVELOPMENT
REINO UNIDO
South Yorkshire
SHEFFIELD
MetBioNet - National Metabolic Biochemistry Network
BELGICA
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUXELLES