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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)
FRANCJA
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
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
ZJEDNOCZONE KRÓLESTWO
Tyne & Wear
NEWCASTLE UPON TYNE
Human Developmental Biology Resource (HDBR): an embryonic and fetal tissue bank for functional genetics and cell-based research
Newcastle University
Institute of Genetic Medicine
AUSTRIA
WIEN
ADDRESS: NOT PROVIDED - AT
Neuro-MIG: European Network on Brain Malformations - AT
Institution: Information not provided - AT
NIEMCY
Berlin
ADDRESS: NOT PROVIDED - DE
Klinische Nachbeobachtung von Patienten mit programmierbarem CODMAN CERTAS Plus-Ventil nach der Markteinführung
Institution: Information not provided - DE
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
KANADA
Colombie-Britannique
VANCOUVER
Étude de la structure et de la fonction du régulateur de l'autophagie humaine EPG5
University of British Columbia
Department of Biochemistry & Molecular Biology
FINLANDIA
Finland
HELSINKI
FinnDisMice - Mouse Models for Finnish Disease Heritage
University of Helsinki
FRANCJA
ILE-DE-FRANCE
PARIS
Processus décisionnels des couples confrontés au diagnostic prénatal d'une agénésie du corps calleux isolée
AP-HP.Sorbonne Université - Hôpital de la Pitié-Salpêtrière
Unité Déficiences intellectuelles/ troubles du développement
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
TOSCANA
PISA
La regolazione del cloro intracellulare nel cervello autistico: dalla ricerca di base alla identificazione di nuovi bersagli farmacologici
Consiglio Nazionale delle Ricerche - NEST
Istituto di Nanoscienze
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
ESPLUGUES DE LLOBREGAT
TeraTRAF: Aproximación a la terapia en patologías debidas a mutaciones en TRAF7
Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu
Grupo de investigación del Metabolismo energético mitocondrial
SZWECJA
Region Stockholm
SOLNA
Understanding Genetic Mechanisms in Disorders and Development of Diagnostic Methods
Karolinska Institutet
Department of Molecular Medicine and Surgery (MMK)
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
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
AUVERGNE-RHONE-ALPES
BRON
Rôle de l'épissage mineur dans le développement cérébral
CHU de Lyon HCL - GH Est-Hôpital Femme Mère Enfant
Equipe GENDEV - Génétique des anomalies du neurodéveloppement
FRANCJA
GRAND-EST
ILLKIRCH-GRAFFENSTADEN
PREDACTING: Predicting the clinical outcome of non-muscle actinopathies - FR
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Biologie du développement et cellules souches
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
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
Bayern
MÜNCHEN
Beschwerdebild & Verlauf von Kopfschmerzen im Rahmen einer Chiari-Malformation Typ 1
LMU Klinikum der Universität München - Campus Großhadern
LMU Klinikum
NIEMCY
Bayern
MÜNCHEN
Beschwerdebild & Verlauf von Kopfschmerzen im Rahmen einer Chiari-Malformation Typ 1
LMU Klinikum der Universität München - Campus Großhadern
Neurologische Klinik und Poliklinik
NIEMCY
Hessen
GIEßEN
Pränatale Operation der fetalen Spina bifida im Hybridverfahren im Rahmen des 'Fetoscopic Myelomeningocele Repair Consortium'
Zentrum für Frauenheilkunde & Geburtshilfe des UKGM am Standort Gießen
Zentrum für pränatale Medizin und fetale Therapie
NIEMCY
Niedersachsen
HANNOVER
PREDACTING: Prädiktive Bewertung der klinischen Verlaufsformen von nicht-muskulären Aktinopathien
Medizinische Hochschule Hannover
Institut für Biophysikalische Chemie
NIEMCY
Sachsen
DRESDEN
PREDACTING: Prädiktive Bewertung der klinischen Verlaufsformen von nicht-muskulären Aktinopathien
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Institut für Klinische Genetik
NIEMCY
Sachsen
DRESDEN
Zerebrale Organoide als Model des neuronalen Phänotyps von nicht-muskulären Aktinopathien
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Institut für Klinische Genetik
WĘGRY
Közép-Magyarország
BUDAPEST
PREDACTING: Predicting the clinical outcome of non-muscle actinopathies - HU
Semmelweis University
Department of Biophysics and Radiation Biology
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 Neuroscienze
WŁOCHY
TOSCANA
SESTO FIORENTINO (FIRENZE)
PREDACTING: Predicting the clinical outcome of non-muscle actinopathies - IT
Università degli Studi di Firenze
Dipartimento di Biologia
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
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Skeletal Genomics
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
The Skeleton of Lateral Meningocele Syndrome
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
SZWAJCARIA
Suisse Alémanique
SCHLIEREN
Understanding the molecular mechanisms underlying phenotypic variability in ciliopathies II
Universität Zürich
Institut für Medizinische Genetik
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
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
The Circadian Molecular Clock is a Biomarker for Epilepsy in Focal Cortical Dysplasia
Institution: Information not provided - US
KANADA
Ontario
TORONTO
Improving treatment for GRIN disorders
University of Toronto
Department of Pharmacology & Toxicology
NORWEGIA
Østlandet
NESODDTANGEN
Aktiv medvirkning og selvstendighet: En studie av relasjoner mellom helsepolitiske føringer og brukererfaringer
Sunnaas Rehabilitation Hospital
TRS kompetansesenter for sjeldne diagnoser
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
- Institut Cochin (INSERM U 1016 - CNRS UMR 8104)
- Equipe "Génétique et physiopathologie de maladies neurodéveloppementales et neuromusculaires"
- IFM - Institut du Fer à Moulin
- Equipe " Développement cortical et pathologie "
- Universitätsklinikum Carl Gustav Carus an der TU Dresden
- Institut für Klinische Genetik
- 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
TUB-GENCODEV: Genetics of cortical gyral dysgenesis and pathophysiology of tubulin-related malformations of cortical development
FRANCJA
ILE-DE-FRANCE
PARIS
HETER-OMICS: Multi-OMICS interrogation of cerebral cortical malformations
NIEMCY
Sachsen
DRESDEN
PREDACTING: Predicting the clinical outcome of non-muscle actinopathies
WŁOCHY
LAZIO
ROMA
Network Italiano Promozione Acido Folico
HOLANDIA
Gelderland
NIJMEGEN