Wyszukaj projekt badawczy
70 Wyniki
Ufundowane przez członka IRDiRC = 
Członek Europejskiej Sieci Referencyjnej (ERN) = 
Projekt badawczy
FRANCJA
ILE-DE-FRANCE
PARIS
Développement d'un imageur de la connectivité fonctionnelle inédit pour diagnostiquer précocément les troubles du développement cerebral chez le nouveau né
Ecole Supérieure de Physique et de Chimie Industrielles (ESPCI Paris)
Ecole Supérieure de Physique et de Chimie Industrielles de la ville de Paris (ESPCI Paris)
NIEMCY
Sachsen-Anhalt
MAGDEBURG
EUROlinkCAT: Europaweites Netzwerk zum Outcome von angeborenen Fehlbildungen (partner DE)
Universitätsklinikum Magdeburg A.ö.R
MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
WŁOCHY
LAZIO
ROMA
Malattie rare causate dalla deregolazione funzionale delle proteine Rho GTPasi
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
HISZPANIA
Madrid
MADRID
RAREGenomics: Red de Recursos Genómicos, Funcionales, Clínicos y Terapeúticos para el Estudio de las Enfermedades Raras Neurológicas
Hospital Universitario Fundación Jiménez Díaz
Servicio de Genética Clínica
AUSTRIA
WIEN
ADDRESS: NOT PROVIDED - AT
Neuro-MIG: European Network on Brain Malformations - AT
Institution: Information not provided - AT
IRLANDIA
County Kildare
MAYNOOTH
Enhancing healthcare transition and longitudinal care for adolescents and adults with spina bifida and/or hydrocephalus in Ireland
Maynooth University
Assisted Learning and Living Institute
STANY ZJEDNOCZONE AMERYKI
Louisiana
NEW ORLEANS
Identification et caractérisation des gènes prédisposant aux anomalies du tube neural
Lsu Health Sciences Center
Neurosciences
STANY ZJEDNOCZONE AMERYKI
South Dakota
SIOUX FALLS
Genetic Susceptibility of Congenital Hydrocephalus
Sanford Research
Lee Lab
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Folic acid; parental mutation rates and the risk for neural tube defects
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Project 3. embryonic reactive oxidative-nitrosative stress and ntd risk
Institution: Information not provided - US
FINLANDIA
Finland
HELSINKI
FinnDisMice - Mouse Models for Finnish Disease Heritage
University of Helsinki
FRANCJA
ILE-DE-FRANCE
PARIS
SCD-Mec: Mécanismes développementaux des anomalies structurelles cérébelleuses
IMAGINE - Institut des Maladies Génétiques
Equipe "Bases moléculaires et physiopathologiques des troubles cognitifs"
FRANCJA
ILE-DE-FRANCE
PARIS
Mécanismes physiopathologiques des microcéphalies
IMAGINE - Institut des Maladies Génétiques
Institut IMAGINE - INSERM U1163
NIEMCY
Rheinland-Pfalz
MAINZ
Therapeutische Strategien zur präklinischen Behandlung des L1-Syndroms
Universitätsmedizin Mainz
Klinik für Anästhesiologie
NIEMCY
Sachsen
DRESDEN
Genetik der kortikalen Fehlbildungen
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Institut für Klinische Genetik
WŁOCHY
LOMBARDIA
MILANO
Sindrome di Joubert e altre malformazioni cerebellari geneticamente determinate. Analisi in vivo in modelli animali
IRCCS Ospedale San Raffaele
U.O. di Genetica dello Sviluppo Neurale
WŁOCHY
VENETO
PADOVA
La regolazione del cloro intracellulare nel cervello autistico: dalla ricerca di base alla identificazione di nuovi bersagli farmacologici
CNR - Istituto di Neuroscienze
Istituto di Neuroscienze
HISZPANIA
Cataluña
BARCELONA
Estudios funcionales y de identificación de estrategias terapéuticas en discapacidad intelectual: TRIM28, TRAF7 y MAGEL2
Universitat de Barcelona. Facultat de Biologia
Departamento de genética molecular humana
HISZPANIA
Comunidad Valenciana
VALENCIA
Caracterización genómica exhaustiva de los síndromes hereditarios mieloides
IIS La Fe - Instituto de Investigación Sanitaria La Fe
Grupo de investigación en hematología y hemoterapia
HISZPANIA
Madrid
MADRID
Descifrando la complejidad genética del hipopituitarismo congénito
INGEMM - Instituto de Genética Médica y Molecular (IdiPAZ)
Sección de Endocrinología Molecular
SZWECJA
Region Stockholm
STOCKHOLM
Understanding Genetic Mechanisms in Disorders and Development of Diagnostic Methods
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Mechanisms of retinal degeneration in inherited diseases
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Genetic analysis of a microrna pathway regulating neural tube closure
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Pathological mechanisms of human cerebeller malformations
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Zfp423 mechanisms in joubert syndrome and related disorders
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Project 3: contribution of autoimmune and inflammatory responses to ntds
Institution: Information not provided - US
FRANCJA
ILE-DE-FRANCE
GARCHES
Hétérotopies laminaires sous-corticales et lissencéphalies: corrélations radio-cliniques et mutations dans le gène double cortine
CHU Paris IdF Ouest - Hôpital Raymond Poincaré
Unité : Neurologie Pédiatrique
FRANCJA
NOUVELLE AQUITAINE
BORDEAUX
NanoPlanSYN : Rôle de la voie de signalisation de la polarité planaire (PCP) dans l'organisation dynamique de la synapse et l'intégration de l'information synaptique: des mécanismes fondamentaux aux conséquences pathophysiologiques
Neurocentre Magendie - Université de Bordeaux
Institut Neurocentre Magendie - U1215
FRANCJA
PROVENCE-ALPES-COTE D'AZUR
MARSEILLE
HETER-OMICS: Interrogatoire Multi-OMICS des malformations corticales cérébrales - FR
Institut de neurobiologie de la méditerranée (INMED)
Bases moléculaires et physiopathologie des malformations du cortex cérébral
NIEMCY
Baden-Württemberg
FREIBURG
Elternbefragung zum natürlichen Verlauf der Pontocerebellären Hypoplasie Typ 2 (PCH2) mittels eines Fragebogens
Zentrum für Kinder- und Jugendmedizin Freiburg
Klinik für Neuropädiatrie und Muskelerkrankungen
NIEMCY
Sachsen
DRESDEN
Nicht-muskuläre Aktinopathien: Baraitser-Winter Cerebrofrontofaciales Syndrom und verwandte Erkrankungen
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Institut für Klinische Genetik
WŁOCHY
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
WŁOCHY
LAZIO
ROMA
Pediatric ataxias and public health: epidemiological studies and disease registry, development of multi-level informatics platform for clinicians and family, and implementation of guidelines for diagnosis, management and care within the national health system
ISS - Istituto Superiore di Sanità
Centro Nazionale per la Prevenzione delle Malattie e la Promozione della Salute
WŁOCHY
LIGURIA
GENOVA
La malattia L1-CAM (sindrome CRASH): espressione di L1-CAM e suo ruolo a livello sinaptico; farmacologia della sua via di segnalazione intracellulare
IRCCS Ospedale Policlinico San Martino - IST - DIMI
Dipartimento di Medicina Sperimentale
HISZPANIA
Comunidad Valenciana
SANT JOAN D'ALACANT
Mecanismos moleculares de la holoprosencefalia asociada a Zic2
Instituto de Neurociencias de Alicante (CSIC-UMH)
Unidad de Neurobiología del Desarrollo
ZJEDNOCZONE KRÓLESTWO
Lothian
EDINBURGH
Identification of genes for Microcephalic Primordial Dwarfism (MOPD I, MOPD II, Seckel syndrome and Meier-Gorlin syndrome), and Primary Microcephaly (with short stature)
Western General Hospital
MRC Human Genetics Unit
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Genetics of brain development
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Mechanisms regulating neural progenitor expansion in the developing brain
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Fetal tissue engineering to treat spina bifida before birth
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Intervention strategies for non-folate responsive neural tube defects
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Molecular basis for individual susceptibility to neural tube defects
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Cadherin interactions in ectodermal derivative fate specification
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Folate-p53 interactions in neural tube defects
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Project 1. gene variants and their interactions defining human ntd risk
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Project 2. quantitative assessment of oxidative stress and 1-c trafficking defects as a basis for ntd risk
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Genetic factors in birth defects
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Project 2: role of oxidative/nitrosative stress in folate-preventable ntds
Institution: Information not provided - US
FRANCJA
ILE-DE-FRANCE
PARIS
Dérégulation du chlore dans les dysplasies corticales focales
Hôpital Necker-Enfants Malades
Service de Neurochirurgie pédiatrique
JAPONIA
JAPAN
HYOGO
Development ofa new molecular targeted therapy for Fukuyama muscular dystrophy
Kobe University Graduate School of Medicine
Department of Pediatrics
JAPONIA
JAPAN
HYOGO
Pre-clinical study of Fukuyama muscular dystrophy antisense nucleic acid drug aiming for regulatory approval and natural history and biomarker search and preparation of trial protocol
Kobe University Graduate School of Medicine
Division of Neurology/Molecular Brain Science
JAPONIA
JAPAN
HYOGO
Investigation of molecular pathogenesis and development of therapeutic strategy of Fukuyama congenital muscular dystrophy based on pathophysiological function of a novel ribitol-phosphate moiety
Kobe University Graduate School of Medicine
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Generation of induced pluripotent stem (ips) cell lines from somatic cells of participants with eye diseases and from somatic cells of matched controls
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
The role of dystroglycan in neural circuit development.
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Functional mechanisms underlying dystroglycan-dependent and independent roles of protein o-mannosylation in the nervous system
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
The role of arl13b in transcription-independent sonic hedgehog regulation of axon guidance
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Genetic architecture and molecular pathogenesis of joubert syndrome
Institution: Information not provided - US
HISZPANIA
Cataluña
ESPLUGUES DE LLOBREGAT
Medicina personalizada en los defectos genéticos de la neurotransmisión en pediatría. Nuevo enfoque basado en el metabolismo de la sinapsis neuronal (enfermedades de la neurotransmisión mediadas por aminoácidos)
Hospital Sant Joan de Déu Barcelona
Unidad de Enfermedades Metabólicas Congénitas
HISZPANIA
Cataluña
L'HOSPITALET DE LLOBREGAT
Delineación integral y medicina personalizada de los trastornos del neurodesarrollo relacionados con GRIN, una encefalopatía pediátrica rara
IDIBELL - Instituto de Investigación Biomédica de Bellvitge
Grupo de Neurofarmacología y Dolor
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
The contribution folate and vitamin b12 genes to disease.
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Stem cell-based biomaterials for spinal cord regeneration in neural tube defects
Institution: Information not provided - US
Wieloośrodkowy projekt badawczy
- Universitätsklinikum Magdeburg A.ö.R
- MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
- Azienda Ospedaliera Universitaria Anna Meyer
- Neurologia Pediatrica
- CHU Paris - Hôpital Robert Debré
- UF de Génétique clinique
- Hôpital Necker-Enfants Malades
- Néphropathies héréditaires et rein en développement
- Institut Cochin (INSERM U 1016 - CNRS UMR 8104)
- Equipe "Génétique et physiopathologie de maladies neurodéveloppementales et neuromusculaires"
- Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
- Département Médecine translationnelle et neurogénétique
- IFM - Institut du Fer à Moulin
- Equipe " Développement cortical et pathologie "
- CHU de Montpellier - Hôpital Gui de Chauliac
- Unité de Recherche sur les Mouvements Anormaux
- ISS - Istituto Superiore di Sanità
- Centro Nazionale Malattie Rare
- Radboudumc - Radboud universitair medisch centrum
- Afdeling Kinderurologie
NIEMCY
Sachsen-Anhalt
MAGDEBURG
International Clearinghouse for Birth Defects Monitoring Systems
WŁOCHY
TOSCANA
FIRENZE
DESIRE: Development and Epilepsy - Strategies for innovative research to improve diagnosis, prevention and treatment in children with difficult to treat epilepsy
FRANCJA
ILE-DE-FRANCE
PARIS
EUROMICRO: Primary monogenic microcephalies : from genetics to pathophysiology and the clinic
FRANCJA
ILE-DE-FRANCE
PARIS
Néphropathies kystiques du foetus et syndromes apparentés
FRANCJA
ILE-DE-FRANCE
PARIS
TUB-GENCODEV: Genetics of cortical gyral dysgenesis and pathophysiology of tubulin-related malformations of cortical development
FRANCJA
GRAND-EST
ILLKIRCH-GRAFFENSTADEN
Réseau d'étude des retards mentaux et déficits cognitifs monogéniques
FRANCJA
ILE-DE-FRANCE
PARIS
HETER-OMICS: Multi-OMICS interrogation of cerebral cortical malformations
FRANCJA
OCCITANIE
MONTPELLIER
Réseau pluridisciplinaire des malformations du système nerveux central et de ses enveloppes
WŁOCHY
LAZIO
ROMA
Network Italiano Promozione Acido Folico
HOLANDIA
Gelderland
NIJMEGEN