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Projets de recherche
FRANCE
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)
ALLEMAGNE
Rheinland-Pfalz
MAINZ
Therapeutic strategies for preclinical treatment of L1 syndrome
Universitätsmedizin Mainz
Klinik für Anästhesiologie
ALLEMAGNE
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
Étude de la structure et de la fonction du régulateur de l'autophagie humaine EPG5
University of British Columbia
Department of Biochemistry & Molecular Biology
ESPAGNE
Cataluña
ESPLUGUES DE LLOBREGAT
TeraTRAF: Approach to therapy in pathologies due to mutations in TRAF7
Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu
Grupo de investigación del Metabolismo energético mitocondrial
ETATS-UNIS
Washington
ADDRESS: NOT PROVIDED - US
Mechanisms of retinal degeneration in inherited diseases
Institution: Information not provided - US
ETATS-UNIS
Washington
ADDRESS: NOT PROVIDED - US
Pathological mechanisms of human cerebeller malformations
Institution: Information not provided - US
ETATS-UNIS
Washington
ADDRESS: NOT PROVIDED - US
Zfp423 mechanisms in joubert syndrome and related disorders
Institution: Information not provided - US
FINLANDE
Finland
HELSINKI
FinnDisMice- Mouse Models for Finnish Disease Heritage
University of Helsinki
ITALIE
TOSCANA
PISA
Intracellular chloride dynamics in autistic brain: a better understanding is needed for tailored cures
Consiglio Nazionale delle Ricerche - NEST
Istituto di Nanoscienze
ITALIE
VENETO
PADOVA
Intracellular chloride dynamics in autistic brain: a better understanding is needed for tailored cures
CNR - Istituto di Neuroscienze
Istituto di Neuroscienze
ROYAUME-UNI
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
SUEDE
Region Stockholm
SOLNA
Understanding Genetic Mechanisms in Disorders and Development of Diagostic Methods
Karolinska Institutet
Department of Molecular Medicine and Surgery (MMK)
ALLEMAGNE
Berlin
ADDRESS: NOT PROVIDED - DE
Post-Market Clinical Follow-up of Patients With CODMAN CERTAS Plus Programmable Valve
Institution: Information not provided - DE
ALLEMAGNE
Niedersachsen
HANNOVER
PREDACTING: Predicting the clinical outcome of non-muscle actinopathies- DE
Medizinische Hochschule Hannover
Institut für Humangenetik
ALLEMAGNE
Niedersachsen
HANNOVER
Modelling of nonmuscle actinopathies in brain organoids
Medizinische Hochschule Hannover
Institut für Humangenetik
ALLEMAGNE
Niedersachsen
HANNOVER
PREDACTING: Predicting the clinical outcome of non-muscle actinopathies- DE
Medizinische Hochschule Hannover
Institut für Biophysikalische Chemie
ETATS-UNIS
Washington
ADDRESS: NOT PROVIDED - US
Skeletal Genomics
Institution: Information not provided - US
FRANCE
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
FRANCE
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
FRANCE
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
HONGRIE
Közép-Magyarország
BUDAPEST
PREDACTING: Predicting the clinical outcome of non-muscle actinopathies - HU
Semmelweis University
Department of Biophysics and Radiation Biology
ITALIE
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
ITALIE
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
ITALIE
TOSCANA
SESTO FIORENTINO (FIRENZE)
PREDACTING: Predicting the clinical outcome of non-muscle actinopathies - IT
Università degli Studi di Firenze
Dipartimento di Biologia
ROYAUME-UNI
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
ETATS-UNIS
Washington
ADDRESS: NOT PROVIDED - US
The role of dystroglycan in neural circuit development.
Institution: Information not provided - US
ETATS-UNIS
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
Projets de recherche multicentriques
- 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
- Medizinische Hochschule Hannover
- Institut für Humangenetik
ITALIE
TOSCANA
FIRENZE
DESIRE: Development and Epilepsy - Strategies for innovative research to improve diagnosis, prevention and treatment in children with difficult to treat epilepsy
ALLEMAGNE
Sachsen-Anhalt
MAGDEBURG
International Clearinghouse for Birth Defects Monitoring Systems
FRANCE
ILE-DE-FRANCE
PARIS
EUROMICRO: Primary monogenic microcephalies : from genetics to pathophysiology and the clinic
ALLEMAGNE
Niedersachsen
HANNOVER