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Progetti di ricerca
SVIZZERA
Suisse Romande
GENÈVE
Genetic investigations in Children with Developmental and Epileptic Encephalopathies in Ho Chi Minh City, Vietnam: A collaborative, prospective, tertiary care center study
Centre Médical Universitaire - CMU
Département de médecine génétique et développement
SVIZZERA
Suisse Romande
GENÈVE
Genetic investigations in Children with Developmental and Epileptic Encephalopathies in Ho Chi Minh City, Vietnam: A collaborative, prospective, tertiary care center study
Hôpital des Enfants - Hôpitaux Universitaires de Genève HUG
Unité de neuropédiatrie
CANADA
Ontario
TORONTO
Improving treatment for GRIN disorders
University of Toronto
Department of Pharmacology & Toxicology
FINLANDIA
Finland
OULU
Novel Diagnostics and Treatment Strategies for Developmental Disorders, Childhood Epilepsies and Movement Disorders
University of Oulu
Biocenter Oulu
FRANCIA
PROVENCE-ALPES-COTE D'AZUR
MARSEILLE
Genotypic and phenotypic analysis of early onset epileptic encephalopathies
Faculté de Médecine de la Timone
Marseille Medical Genetics Center - Inserm U1251
FRANCIA
PROVENCE-ALPES-COTE D'AZUR
MARSEILLE
TREATKCNQ: Targeted treatment for KCNQ related encephalopathies: retigabine analogues, repurposed drugs and allele specific knock down - FR
Faculté de Médecine de la Timone
Marseille Medical Genetics Center - Inserm U1251
GERMANIA
Baden-Württemberg
TÜBINGEN
Brain region-specific epileptogenesis in a conditional mouse model (FOR 2715: Epileptogenesis of genetic epilepsies)
Hertie-Institut für klinische Hirnforschung (HIH)
Abteilung für Neurologie mit Schwerpunkt Epileptologie
GERMANIA
Baden-Württemberg
TÜBINGEN
TREATKCNQ: Targeted treatment for KCNQ related encephalopathies: retigabine analogues, repurposed drugs and allele specific knock down -Validation of retigabine analogs and repurposed compounds in primary mouse neuron and human brain slice cultures - DE (partner 2)
Neurochirurgische Uniklinik Tübingen
Klinik für Neurochirurgie
GERMANIA
Hessen
FRANKFURT AM MAIN
TREATKCNQ: Targeted treatment for KCNQ related encephalopathies: retigabine analogues, repurposed drugs and allele specific knock down -KCNQ-specific thallium flux assays for retigabine analog screening and high-throughput repurposing screening - DE (partner 1)
ITMP -Standort Frankfurt
Fraunhofer-Institut für Translationale Medizin und Pharmakologie ITMP
GERMANIA
Nordrhein-Westfalen
AACHEN
Genetic mechanisms of epileptic encephalopathies (FOR 2715: Epileptogenesis of genetic epilepsies)
Universitätsklinikum Aachen
Klinik für Neurologie
GERMANIA
Nordrhein-Westfalen
KÖLN
Generation and characterization of new mouse models and transcription profiling (FOR 2715: Epileptogenesis of genetic epilepsies)
Cologne Center for Genomics (CCG) der Universität zu Köln
Cologne Center for Genomics
GERMANIA
Schleswig-Holstein
KIEL
Genetic mechanisms of epileptic encephalopathies (FOR 2715: Epileptogenesis of genetic epilepsies)
Universitätsklinikum Schleswig-Holstein - Campus Kiel
Klinik für Kinder- und Jugendmedizin II : Neuropädiatrie und Sozialpädiatrie
ITALIA
CAMPANIA
NAPOLI
TREATKCNQ: Targeted treatment for KCNQ related encephalopathies: retigabine analogues, repurposed drugs and allele specific knock down - IT
Azienda Ospedaliera Universitaria "Federico II"
Dipartimento di Neuroscienze
ITALIA
CAMPANIA
NAPOLI
Studio delle mutazioni del gene ARX identificate in pazienti affetti da malattie del neurosviluppo
Istituto di Genetica e Biofisica "Adriano Buzzati Traverso" - CNR
Human Molecular Neurogenetics Laboratoty
ITALIA
CAMPANIA
NAPOLI
Alla ricerca di nuovi bersagli terapeutici per contrastare l'ipomielinizzazione nell'AGC1 deficiency uno studio multidisciplinare sui precursori delle cellule cerebrali
Istituto di Genetica e Biofisica "Adriano Buzzati Traverso" - CNR
Istituto di Genetica e Biofisica "Adriano Buzzati-Traverso"
ITALIA
EMILIA ROMAGNA
BOLOGNA
Alla ricerca di nuovi bersagli terapeutici per contrastare l'ipomielinizzazione nell'AGC1 deficiency uno studio multidisciplinare sui precursori delle cellule cerebrali
Università di Bologna - Scienze Biologiche, Geologiche ed Ambientali
Dipartimento di Farmacia e Biotecnologie
SPAGNA
Cataluña
BARCELONA
Evaluation of NGS candidate genes causality in developmental epileptic encephalopathies
Vall d'Hebron Institut de Recerca VHIR
Vall d'Hebron Institut de Recerca
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Mechanisms regulating kcc2 hypofunction during refractory seizures in a mouse model of ischemic neonatal seizures
Institution: Information not provided - US
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Functional Genetics of the Neuronal Sodium Channel Gene SCN8A
Institution: Information not provided - US
SVIZZERA
Suisse Alémanique
BASEL
From the GABA-B receptor structure to brain functions and therapeutic concepts
Universitätsspital Basel
Departement Biomedizin
NORVEGIA
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
NORVEGIA
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
PORTOGALLO
SUL
LISBOA
Noninvasive dynamic neuroimaging in epilepsy
Instituto Superior Técnico
LaSEEB-Evolutionary Systems and Biomedical Engineering Lab
REPUBBLICA CECA
Capital City Prague
PRAHA
Epilepsy genetics: To solve unsolvable cases with combined OMICs tools
University Hospital Motol
Department of Pediatric Neurology
SPAGNA
Galicia
A CORUÑA
Innovative static magnetic field therapy for refractary epilepsy and Dravet syndrome: Experimental, numerical and clinical research
Hospital Materno-Infantil Teresa Herrera
Fundación Profesor Nóvoa Santos
FRANCIA
ILE-DE-FRANCE
PARIS
Neuroglobin gene overexpression: a promising tool for treating a large spectrum of neurological disorders thanks to its ability to safely and sustainably preserve mitochondrial integrity
Institut National de la Santé et de la Recherche Médicale
ITALIA
LAZIO
ROMA
Malattie rare causate dalla deregolazione funzionale delle proteine Rho GTPasi
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
SPAGNA
Cataluña
BARCELONA
Igenco: In-Depth genomics and cross-omics analysis for undiagnosed rare diseases on a user-friendly collaborative platform
Centro de Regulación Genómica
Centro Nacional de Análisis Genómico
SPAGNA
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
CANADA
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
CANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute
SPAGNA
Andalucía
SEVILLA
Development of bioinformatic tools for the automatic handling of secondary findings and their use in genetic and pharmacogenetic counseling
Fundación Progreso y Salud
Área de bioinformática clínica
SPAGNA
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
SPAGNA
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Clínic de Barcelona
Servicio de Inmunologia
SPAGNA
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari Vall d'Hebron
Laboratorio de Genética
SPAGNA
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
SPAGNA
Cataluña
ESPLUGUES DE LLOBREGAT
Federated network for functional genomics of undiagnosed and rare diseases, RareFunction
Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu
Grupo de investigación en Neurogenética y Medicina Molecular
SPAGNA
Cataluña
ESPLUGUES DE LLOBREGAT
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Sant Joan de Déu Barcelona
Servicio de Laboratorio
SPAGNA
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
SPAGNA
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
Progetti di ricerca multicentrici
- CHU de Lyon HCL - GH Est-Hôpital Femme Mère Enfant
- Service d'epileptologie clinique, des troubles du sommeil et de neurologie fonctionnelle de l'enfant
- The National Hospital For Neurology and Neurosurgery
- Department of Clinical Neurophysiology
- Ziekenhuis Netwerk Antwerpen (ZNA) - Campus Middelheim
- Neurologie
- IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
- Divisione di Neurologia
- Azienda Ospedaliera Universitaria Anna Meyer
- Neurologia Pediatrica
- University of Antwerp - UA, Campus Drie Eiken
- VIB Department of Molecular Genetics
- Hertie-Institut für klinische Hirnforschung (HIH)
- Abteilung für Neurologie mit Schwerpunkt Epileptologie
- The National Hospital For Neurology and Neurosurgery
- Department of Clinical and Experimental Epilepsy
- Azienda Ospedaliera di Padova
- Clinica Pediatrica
FRANCIA
AUVERGNE-RHONE-ALPES
BRON
NEUROPED: European network of reference for rare paediatric neurological diseases
REGNO UNITO; GRAN BRETAGNA
Greater London
LONDON
NEMO: treatment of neonatal seizures with medication off-patent: evaluation of efficacy and safety of bumetanide
BELGIO
ANTWERPEN
ANTWERPEN
TREATKCNQ: Targeted treatment for KCNQ related encephalopathies: retigabine analogues, repurposed drugs and allele specific knock down
ITALIA
LAZIO
ROMA
EUROBNFS: Benign Familial Neonatal Seizures (BNFS) as a disease model for human idiopathic epilepsies: expansion of genotype-phenotype correlations and insights into novel disease mechanisms
ITALIA
TOSCANA
FIRENZE
DESIRE: Development and Epilepsy - Strategies for innovative research to improve diagnosis, prevention and treatment in children with difficult to treat epilepsy
BELGIO
ANTWERPEN
ANTWERPEN
EuroEPINOMICS: Genetics of rare epilepsy syndromes - RES
GERMANIA
Baden-Württemberg
TÜBINGEN
EPICURE: Functional genomics and neurobiology of epilepsy: a basis for new therapeutic strategies
REGNO UNITO; GRAN BRETAGNA
Greater London
LONDON
EpiPGX: Epilepsy Pharmacogenomics: delivering biomarkers for clinical use
ITALIA
VENETO
PADOVA