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Projetos de investigação
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
ESPANHA
Cataluña
BARCELONA
Functional and identification studies of therapeutic strategies in intellectual disability: TRIM28, TRAF7 and MAGEL2
Universitat de Barcelona. Facultat de Biologia
Departamento de genética molecular humana
ESPANHA
Comunidad Valenciana
VALENCIA
Comprehensive genomic characterization of hereditary myeloid syndromes
IIS La Fe - Instituto de Investigación Sanitaria La Fe
Grupo de investigación en hematología y hemoterapia
ESPANHA
Madrid
MADRID
Deciphering the genetic complexity of congenital hypopituitarism
INGEMM - Instituto de Genética Médica y Molecular (IdiPAZ)
Sección de Endocrinología Molecular
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
SUECIA
Region Stockholm
STOCKHOLM
Understanding Genetic Mechanisms in Disorders and Development of Diagostic Methods
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery
ALEMANHA
Sachsen
DRESDEN
Non-muscular actinopathies: Baraitser-Winter Cerebrofrontofacial syndrome and related disorders
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Institut für Klinische Genetik
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
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 Medicina Sperimentale
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
JAPAO
JAPAN
HYOGO
Development ofa new molecular targeted therapy for Fukuyama muscular dystrophy
Kobe University Graduate School of Medicine
Department of Pediatrics
JAPAO
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
JAPAO
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
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
- Hôpital Necker-Enfants Malades
- Néphropathies héréditaires et rein en développement
- Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
- Département Médecine translationnelle et neurogénétique
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
FRANCA
ILE-DE-FRANCE
PARIS
Néphropathies kystiques du foetus et syndromes apparentés
FRANCA
GRAND-EST
ILLKIRCH-GRAFFENSTADEN