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Projetos de investigação encerrados = 
Financiado por um membro do IRDiRC = 
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Projetos de investigação
AUSTRIA
WIEN
ADDRESS: NOT PROVIDED - AT
Neuro-MIG: European Network on Brain Malformations - AT
Institution: Information not provided - AT
FRANCA
ILE-DE-FRANCE
PARIS
Development of a novel functional connectivity imager for early diagnosis of brain development disorders in newborns
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)
ALEMANHA
Rheinland-Pfalz
MAINZ
Therapeutic strategies for preclinical treatment of L1 syndrome
Universitätsmedizin Mainz
Klinik für Anästhesiologie
ALEMANHA
Sachsen-Anhalt
MAGDEBURG
EUROlinkCAT: Establishing a linked European Cohort of Children with Congenital Anomalies (partner DE)
Universitätsklinikum Magdeburg A.ö.R
MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
CANADA
Colombie-Britannique
VANCOUVER
Investigating the structure and function of the human autophagy regulator EPG5
University of British Columbia
Department of Biochemistry & Molecular Biology
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Mechanisms of retinal degeneration in inherited diseases
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Pathological mechanisms of human cerebeller malformations
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Zfp423 mechanisms in joubert syndrome and related disorders
Institution: Information not provided - US
FINLANDIA
Finland
HELSINKI
FinnDisMice- Mouse Models for Finnish Disease Heritage
University of Helsinki
ITALIA
TOSCANA
PISA
Intracellular chloride dynamics in autistic brain: a better understanding is needed for tailored cures
Consiglio Nazionale delle Ricerche - NEST
Istituto di Nanoscienze
ITALIA
VENETO
PADOVA
Intracellular chloride dynamics in autistic brain: a better understanding is needed for tailored cures
CNR - Istituto di Neuroscienze
Istituto di Neuroscienze
REINO UNIDO
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
SUECIA
Region Stockholm
SOLNA
Understanding Genetic Mechanisms in Disorders and Development of Diagostic Methods
Karolinska Institutet
Department of Molecular Medicine and Surgery (MMK)
ALEMANHA
Niedersachsen
HANNOVER
PREDACTING: Predicting the clinical outcome of non-muscle actinopathies- DE
Medizinische Hochschule Hannover
Institut für Biophysikalische Chemie
ALEMANHA
Sachsen
DRESDEN
PREDACTING: Predicting the clinical outcome of non-muscle actinopathies- DE
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Institut für Klinische Genetik
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Skeletal Genomics
Institution: Information not provided - US
FRANCA
AUVERGNE-RHONE-ALPES
BRON
Role of minor splicing in brain development
CHU de Lyon HCL - GH Est-Hôpital Femme Mère Enfant
Service de génétique
FRANCA
AUVERGNE-RHONE-ALPES
LYON
Role of minor splicing in brain development
CHU de Lyon HCL - GH Nord-Hôpital de la Croix Rousse
Service de neurogénétique
FRANCA
AUVERGNE-RHONE-ALPES
VILLEURBANNE
A transcriptomic study in zebrafish models of RNU4ATAC-associated rare diseases: connecting U12 splicing defects to developmental abnormalities
Université Claude Bernard Lyon 1
Centre de Recherche en Neurosciences de Lyon (CNRL), INSERM U1028, CNRS UMR 5292
FRANCA
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
FRANCA
ILE-DE-FRANCE
GARCHES
Laminar sub-cortical heterotopies and lissencephalies: radio-clinical correlations and mutations in the double cortin gene
CHU Paris IdF Ouest - Hôpital Raymond Poincaré
Unité : Neurologie Pédiatrique
HUNGRIA
Közép-Magyarország
BUDAPEST
PREDACTING: Predicting the clinical outcome of non-muscle actinopathies - HU
Semmelweis University
Department of Biophysics and Radiation Biology
ITALIA
CAMPANIA
NAPOLI
Analysis of ARX mutations in patients with neurodevelopmental diseases (NDDs)
Istituto di Genetica e Biofisica "Adriano Buzzati Traverso" - CNR
Human Molecular Neurogenetics Laboratoty
ITALIA
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
ITALIA
LIGURIA
GENOVA
L1-CAM-disease (CRASH syndrome): expression and synaptic role of expression and synaptic role of L1-CAM and its mutations; pharmacology of its signalling
IRCCS Ospedale Policlinico San Martino - IST - DIMI
Dipartimento di Neuroscienze
ITALIA
TOSCANA
SESTO FIORENTINO (FIRENZE)
PREDACTING: Predicting the clinical outcome of non-muscle actinopathies - IT
Università degli Studi di Firenze
Dipartimento di Biologia
REINO UNIDO
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
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
The role of dystroglycan in neural circuit development.
Institution: Information not provided - US
ESTADOS UNIDOS
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
Projetos de investigação multicêntricos
- Azienda Ospedaliera Universitaria Anna Meyer
- Neurologia Pediatrica
- Universitätsklinikum Magdeburg A.ö.R
- MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
- CHU Paris - Hôpital Robert Debré
- UF de Génétique clinique
- Universitätsklinikum Carl Gustav Carus an der TU Dresden
- Institut für Klinische Genetik
ITALIA
TOSCANA
FIRENZE
DESIRE: Development and Epilepsy - Strategies for innovative research to improve diagnosis, prevention and treatment in children with difficult to treat epilepsy
ALEMANHA
Sachsen-Anhalt
MAGDEBURG
International Clearinghouse for Birth Defects Monitoring Systems
FRANCA
ILE-DE-FRANCE
PARIS
EUROMICRO: Primary monogenic microcephalies : from genetics to pathophysiology and the clinic
ALEMANHA
Sachsen
DRESDEN