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Financiado por um membro do IRDiRC =

Projetos de investigação

AUSTRIA

STEIERMARK
GRAZ

ICon-E: Initial Concerns Extended. Lessons from Fragile X Syndrome.
Medizinische Universität Graz
Institut für Physiologie

ESPANHA

Castilla - León
SALAMANCA

Function of E3 ubiquitin ligase APC/C-Cdh1 in the pathophysiology of fragile X syndrome. Possible therapeutic application
IBSAL - Instituto de Investigación Biomédica de Salamanca
Neurobiología molecular

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCTherapeutics for rare and neglected diseases - science
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCUsing a disease-affected cell to synthesize its own drug
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCMechanisms of fmrp mediated translational repression
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCNeural coordination and discoordination in fmr1 null mice
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCNovel mechanisms regulating wnd/dlk in synaptic development
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCImpact of cognition on balance and gait markers for fxtas
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCImpact of cgg repeats on fmr1 gene function and human health
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCRescuing fragile x syndrome by targeting p70 s6 kinase 1
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCRescuing the fragile x syndrome by cpeb depletion
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCStrategies to rescue pi3k dysregulation in fragile x syndrome
Institution: Information not provided - US

FRANCA

GRAND-EST
ILLKIRCH-GRAFFENSTADEN

Financiado por um membro do IRDiRCIdentification of the FMRP binding site on its neuronal mRNA targets by CLIP-seq in the Fmr1-KO mouse model of the fragile X syndrome
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Médecine translationnelle et neurogénétique

FRANCA

OCCITANIE
MONTPELLIER

FRANCA

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

FRANCA

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

FRANCA

PROVENCE-ALPES-COTE D'AZUR
VALBONNE

Financiado por um membro do IRDiRCSUMO-FXS : Pathophysiological Implication of Sumoylation in Intellectual Disability
IPMC - Institut de Pharmacologie Moléculaire et Cellulaire
Equipe "Implication physiologique et physiopathologique de la sumoylation neuronale"

IRLANDA

County Dublin
DUBLIN

ITALIA

LAZIO
ROMA

Financiado por um membro do IRDiRCEpigenetic and synaptic mechanisms affected in Fragile X Syndrome
Università degli Studi di Roma Tor Vergata
Dipartimento di Biomedicina e Prevenzione

ITALIA

SICILIA
TROINA

ITALIA

LOMBARDIA
PAVIA

Financiado por um membro do IRDiRCHigh resolution array-CGH and gene expression analyses in autism spectrum disorders
Università degli Studi di Pavia
Dipartimento di Genetica e Microbiologia

SUECIA

Stockholms läns landsting
STOCKHOLM

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

ALEMANHA

Hessen
MARBURG

Financiado por um membro do IRDiRCASD-NET: Autism spectrum disorder throughout the lifespan - More effective care through valid diagnoses and a better understanding of etiology
Universitätsklinik für Kinder- und Jugendpsychiatrie
Klinik für Kinder- und Jugendpsychiatrie, Psychosomatik und Psychotherapie

ALEMANHA

Nordrhein-Westfalen
DÜSSELDORF

Financiado por um membro do IRDiRCASD-NET: Analysis of current disease-related costs and models of efficient care for autism spectrum disorders
Kliniken der Heinrich-Heine Universität Düsseldorf
Abteilung für Kinder- und Jugendpsychiatrie, Psychosomatik und Psychotherapie

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

FINLANDIA

Finland
HELSINKI

FRANCA

GRAND-EST
ILLKIRCH-GRAFFENSTADEN

Targeted high-throughput sequencing sequencing diagnostic strategy for autistim spectrum disorders with or without intellectual disability
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Médecine translationnelle et neurogénétique

FRANCA

PAYS DE LA LOIRE
NANTES

In vivo modeling for the genetic diagnosis of intellectual disabilities
CHU de Nantes - Institut de Biologie
Laboratoire de génétique moléculaire

ITALIA

LAZIO
ROMA

Financiado por um membro do IRDiRCPrimary Prevention and Surveillance of Congenital Anomalies
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

ALEMANHA

Sachsen-Anhalt
MAGDEBURG

Financiado por um membro do IRDiRCEUROlinkCAT: Establishing a linked European Cohort of Children with Congenital Anomalies (partner DE)
Universitätsklinikum Magdeburg A.ö.R
MONZ - Fehlbildungsmonitoring Sachsen-Anhalt

ESPANHA

Madrid
MADRID

FRANCA

PAYS DE LA LOIRE
ANGERS

REINO UNIDO

Cambridgeshire
HINXTON

The Deciphering Developmental Disorders (the DDD study)
Wellcome Trust Sanger Institute
DECIPHER

SUICA

Suisse Alémanique
BASEL

Massively parallel sequencing for gene discovery in lethal fetal disorders
Universitätsspital Basel
Abteilung für Medizinische Genetik

FRANCA

ILE-DE-FRANCE
PARIS

Financiado por um membro do IRDiRCSTaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy - FR
Muséum National d'Histoire Naturelle
Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196

FRANCA

PAYS DE LA LOIRE
NANTES

Financiado por um membro do IRDiRCFROGH : FRench Regional Origins in Genetics for Health - FR
Institut de Recherche en Santé - Université de Nantes
L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291

ITALIA

CAMPANIA
NAPOLI

Financiado por um membro do IRDiRCTelethon Undiagnosed Disease Program - Revised Proposal
TIGEM - Telethon Institute of Genetics and Medicine
Genomic Medicine - Telethon Institute of Genetics and Medicine

JAPAO

JAPAN
TOKYO

Financiado por um membro do IRDiRCFormation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute

Projetos de investigação multicêntricos