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Progetti di ricerca

FRANCIA

GRAND-EST
ILLKIRCH-GRAFFENSTADEN

Finanziato da un ente associato a IRDiRCStudy of the regulation of diacylglycerol kinase activity by FMRP and its deregulation in Fragile X syndrome disease
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Médecine translationnelle et neurogénétique

FRANCIA

PAYS DE LA LOIRE
NANTES

Genotype-phenotype correlation and penetrance study of the FXTAS: premutation carriers
CHU de Nantes - Hôpital Nord Guillaume et René Laënnec
Centre d'investigation clinique neuro-psycho-pharmacologie

FRANCIA

PROVENCE-ALPES-COTE D'AZUR
VALBONNE

Pathophysiology of mental retardation: Fragile X syndrome and mental retardation associated with the FRAXE site on Xq28
IPMC - Institut de Pharmacologie Moléculaire et Cellulaire
Institut de Pharmacologie Moléculaire et Cellulaire - IPMC UMR7275

FRANCIA

PROVENCE-ALPES-COTE D'AZUR
VALBONNE

Finanziato da un ente associato a IRDiRCNew therapeutic targets in Fragile X Syndrome
IPMC - Institut de Pharmacologie Moléculaire et Cellulaire
Institut de Pharmacologie Moléculaire et Cellulaire - IPMC UMR7275

FRANCIA

PROVENCE-ALPES-COTE D'AZUR
VALBONNE

Finanziato da un ente associato a IRDiRCExplore innovative strategies to restore synaptic function and sociocognitive behaviors in a mouse model expressing a recurrent mutation in Fragile X syndrome in humans
IPMC - Institut de Pharmacologie Moléculaire et Cellulaire
Equipe "Implication physiologique et physiopathologique de la sumoylation neuronale"

IRLANDA

County Dublin
DUBLIN

ITALIA

LAZIO
ROMA

Finanziato da un ente associato a IRDiRCCharacterization of adenosine receptors in a mouse model of fragile X syndrome (FXS)
ISS - Istituto Superiore di Sanità
Centro Nazionale per la Ricerca e la Valutazione preclinica e clinica dei Farmaci

ITALIA

LAZIO
ROMA

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCTherapeutics for rare and neglected diseases - science
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCUsing a disease-affected cell to synthesize its own drug
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCMechanisms of fmrp mediated translational repression
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCNeural coordination and discoordination in fmr1 null mice
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCImpact of cognition on balance and gait markers for fxtas
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCImpact of cgg repeats on fmr1 gene function and human health
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCRescuing fragile x syndrome by targeting p70 s6 kinase 1
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCRescuing the fragile x syndrome by cpeb depletion
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCStrategies to rescue pi3k dysregulation in fragile x syndrome
Institution: Information not provided - US

SVEZIA

Region Stockholm
STOCKHOLM

Understanding Genetic Mechanisms in Disorders and Development of Diagostic Methods
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery

CANADA

Québec
SHERBROOKE

Clinical exome sequencing for molecular diagnosis of polymalformative syndromes
CIUSSS de l'Estrie - CHUS Fleurimont
Service de génétique médicale

FINLANDIA

Finland
HELSINKI

GERMANIA

Niedersachsen
GÖTTINGEN

Finanziato da un ente associato a IRDiRCASD-NET: Autism Spectrum Disorders Network
Universitätsmedizin Göttingen
ZSEG - Zentrum für seltene Erkrankungen Göttingen

FRANCIA

AUVERGNE-RHONE-ALPES
LYON

FRANCIA

BOURGOGNE-FRANCHE-COMTE
DIJON

GERMANIA

Sachsen-Anhalt
MAGDEBURG

Finanziato da un ente associato a IRDiRCEUROlinkCAT: Establishing a linked European Cohort of Children with Congenital Anomalies (partner DE)
Universitätsklinikum Magdeburg A.ö.R
MONZ - Fehlbildungsmonitoring Sachsen-Anhalt

REGNO UNITO; GRAN BRETAGNA

Tyne & Wear
NEWCASTLE UPON TYNE

SPAGNA

Cataluña
SABADELL

SPAGNA

Madrid
MADRID

SPAGNA

Madrid
MADRID

Finanziato da un ente associato a IRDiRCEvaluation of the use of the fetal exome as a tool for identifying the genetic basis of major ultrasound abnormalities
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en genética y herencia

CANADA

Colombie-Britannique
VICTORIA

CANADA

Ontario
TORONTO

ITALIA

LAZIO
ROMA

Finanziato da un ente associato a IRDiRCMalattie rare causate dalla deregolazione funzionale delle proteine Rho GTPasi
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

SPAGNA

Madrid
MADRID

Finanziato da un ente associato a IRDiRCIdentification of new genes causing rare diseases in pediatric patients, searching of genetic pharmacological targets, and drugs discovery, the steps for a personalized medicine
Instituto de Investigación Hospital 12 de Octubre
Fundación para la Investigación Biomédica del Hospital Universitario 12 de Octubre

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCA powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US

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