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Projets de recherche

Cataluña
L'HOSPITALET DE LLOBREGAT
Improving diagnostic yield for hereditary spastic paraplegias and cerebellar ataxias with long-read genome, transcriptome, and functional genomics
IDIBELL - Instituto de Investigación Biomédica de Bellvitge
Instituto de Investigación Biomédica de Bellvitge

Washington
ADDRESS: NOT PROVIDED - US
Patholog-omics - essential tremor in the broader context of neurodegeneration
Institution: Information not provided - US

ILE-DE-FRANCE
PARIS
Développement d'une thérapie génique à la neuroglobine visant à traiter les ataxies cérébelleuses, indépendamment de leur origine génétique, en bénéficiant d'un effet protecteur durable de la neuroglobine sur la fonction mitochondriale
Université Pierre et Marie Curie - Paris 6 - UPMC
INSERM, U968

County Dublin
DUBLIN
Conformational triggers, Mechanisms and Pathways for Neurodegenerative Disease
Trinity College Dublin
Institute of Neuroscience

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

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

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

NORTE
SANTA MARIA DA FEIRA
SPATAX: Clinical and Genetic Analysis of Cerebellar Ataxias and Spastic Paraplegias
Hospital São Sebastião
Serviço de Neurologia

WIEN
ADDRESS: NOT PROVIDED - AT
RAGT-Neuro-1: Robot-assisted gait training in patients with neurological disorders: a comparative multiple case study - AT
Institution: Information not provided - AT

Québec
SHERBROOKE
Application clinique du séquençage de l'exome pour le diagnostic moléculaire des syndromes polymalformatifs
CIUSSS de l'Estrie - CHUS Fleurimont
Service de génétique médicale

Arizona
PHOENIX
The etiology of inherited neurological diseases
Phoenix Children's Hospital
Barrow Neurological Institute

Østlandet
OSLO
Diet, Gut Microbiota and Epigenetics - Identification of factors associated with successful dietary treatment of epilepsy in children
Oslo University Hospital, Ullevaal
NevSom - Nasjonalt kompetansesenter for nevroutviklingsforstyrrelser og hypersomier

Østlandet
SANDVIKA
Theraputic drug monitoring of patients across the ages at a referral center
SSE - Spesialistsykehuset for epilepsi, Oslo University Hospital
NK-SE - Nasjonalt kompetansesenter for sjeldne epilepsirelaterte diagnoser

SUL
LISBOA
Noninvasive dynamic neuroimaging in epilepsy
Instituto Superior Técnico
LaSEEB-Evolutionary Systems and Biomedical Engineering Lab

Alberta
CALGARY
Muscle rehabilitation of cerebral palsy patients recieving botulinum toxin type-A (Botox) treatments
University of Calgary
Faculty of Kinesiology

Cataluña
BARCELONA
Igenco: In-Depth genomics and cross-omics analysis for undiagnosed rare diseases on a user-friendly collaborative platform
ISGlobal - Instituto de Salud Global de Barcelona
Programa de investigación en Enfermedades no transmisibles y medio ambiente

Cataluña
SABADELL
Rare variant burden contribution to psychiatric disorders in a child-adolescent population with borderline/mild intellectual disability
Corporación Sanitaria Parc Taulí
Laboratorio de Genética de la UDIAT-CD

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

AUVERGNE-RHONE-ALPES
LYON
Caractérisation de la perturbation de l'architecture 3D de la chromatine dans les réarrangements chromosomiques pour identifier les gènes candidats dans les troubles neurodéveloppementaux
Faculté de Médecine Lyon Est
Institut NeuroMyoGène (INMG) - CNRS UMR 5310 / INSERM U1217

BOURGOGNE-FRANCHE-COMTE
DIJON
Configurations d’Aides et Situations d’Emploi pour les PRoches Aidants. Le cas des enfants atteints de maladies rares avec déficience intellectuelle. Une étude pilote
Université de Bourgogne - Bâtiment B3
Laboratoire d'Economie de Dijon (LEDi)

ILE-DE-FRANCE
PARIS
La surexpression du gène de la neuroglobine : un outil prometteur pour traiter un large spectre de troubles neurologiques grâce à sa capacité à préserver de manière sûre et durable l'intégrité mitochondriale
Institut National de la Santé et de la Recherche Médicale

LAZIO
ROMA
Diverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

Colombie-Britannique
VICTORIA
Silent Genomes: Reducing health care disparities and improving diagnostic success for children with genetic diseases from Indigenous populations
University of Victoria
Community Genetics Research Program/Island Medical Program

Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute

Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Centro de Regulación Genómica
Archivo europeo de genomas y fenomas del CRG

Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Clínic de Barcelona
Servicio de Inmunologia

Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari Vall d'Hebron
Laboratorio de Genética

Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital de la Santa Creu i Sant Pau
Servicio de Genética

Cataluña
L'HOSPITALET DE LLOBREGAT
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari de Bellvitge
Unidad de Genética Molecular

Madrid
MADRID
Identification of new genes causing rare diseases in pediatric patients, searching of genetic pharmacological targets, and drugs discovery, the steps for a personalized medicine
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en enfermedades raras, mitocondriales y neuromusculares

Washington
ADDRESS: NOT PROVIDED - US
A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US

Cataluña
BARCELONA
Advanced genomics and lipidomics for identifying novel causes of inherited movement disorders
Instituto de Química Avanzada de Cataluña
Unidad de Investigación en Moléculas Bioactivas

País Vasco
SAN SEBASTIÁN
Advanced genomics and lipidomics for identifying novel causes of inherited movement disorders
Instituto de Investigación Sanitaria Biodonostia
Área de Neurociencias

Finland
OULU
FINCA mouse as a tool to study mechanisms behind severe fibrosis and neurodegeneration
University of Oulu
Biocenter Oulu
Projets de recherche multicentriques
- Hertie-Institut für klinische Hirnforschung (HIH)
- Abteilung Neurologie mit Schwerpunkt neurodegenerative Erkrankungen
- Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
- Equipe "Bases moléculaires, physiopathologie et traitement des maladies neurodégénératives"
- IURC - Institut Universitaire de Recherche Clinique
- Laboratoire de génétique moléculaire
- Hertie-Institut für klinische Hirnforschung (HIH)
- Abteilung für Neurologie mit Schwerpunkt Epileptologie
- Institut für Medizinische Genetik und angewandte Genomik Tübingen
- Institut für Medizinische Genetik und angewandte Genomik
- University of Antwerp - UA, Campus Drie Eiken
- VIB Department of Molecular Genetics
- The National Hospital For Neurology and Neurosurgery
- Department of Clinical and Experimental Epilepsy
- A.O.U. Policlinico "G. Martino"
- U.O. di Neuropsichiatria Infantile - Dipartimento di Scienze Pediatriche
- Azienda Ospedaliera di Padova
- Clinica Pediatrica
- Radboudumc - Radboud universitair medisch centrum
- Afdeling Genetica
- Alzheimer Europe Office
- Max-Planck-Institut für experimentelle Medizin
- Abteilung Molekulare Neurobiologie

Baden-Württemberg
TÜBINGEN
PREPARE : Preparing for therapies in autosomal recessive ataxias

ILE-DE-FRANCE
PARIS
SPATAX: réseau européen des maladies héréditaires dégénératives spinocérébelleuses

OCCITANIE
MONTPELLIER
Euro-SCAR: Nosology and molecular diagnosis of the degenerative recessive ataxias

Baden-Württemberg
TÜBINGEN
EPICURE: Functional genomics and neurobiology of epilepsy: a basis for new therapeutic strategies

Baden-Württemberg
TÜBINGEN
Neuromics: Integrated European -omics research project for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases

ANTWERPEN
ANTWERPEN
EuroEPINOMICS: Genetics of rare epilepsy syndromes - RES

Greater London
LONDON
EpiPGX: Epilepsy Pharmacogenomics: delivering biomarkers for clinical use

SICILIA
MESSINA
CHERISH: amélioration du diagnostic de retard mental chez les enfants en Europe centrale et orientale et en Asie centrale grâce à la caractérisation génétique et la bioinformatique/biostatistique

VENETO
PADOVA
Brains for brain: research group of the European task force on brain and neurodegenerative lysosomal storage diseases

Gelderland
NIJMEGEN
GENCODYS: Genetic and Epigenetic Networks in Cognitive Dysfunction (Terminated)

LUXEMBOURG
LUXEMBOURG
Alzheimer Europe: European database on rare forms of dementia

Niedersachsen
GÖTTINGEN