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Projetos de investigação encerrados = Financiado por um membro do IRDiRC = Membro de uma ERN =

Projetos de investigação

ESPANHA

Galicia
A CORUÑA

NORUEGA

Østlandet
OSLO

Diet, Gut Microbiota and Epigenetics - Identification of factors associated with successful dietary treatment of epilepsy in children
Oslo University Hospital, Ullevaal
NevSom - Nasjonalt kompetansesenter for nevroutviklingsforstyrrelser og hypersomier

NORUEGA

Østlandet
SANDVIKA

Theraputic drug monitoring of patients across the ages at a referral center
SSE - Spesialistsykehuset for epilepsi, Oslo University Hospital
NK-SE - Nasjonalt kompetansesenter for sjeldne epilepsirelaterte diagnoser

PORTUGAL

SUL
LISBOA

Neuroimagem dinâmica não-invasiva em epilepsia
Instituto Superior Técnico
LaSEEB-Evolutionary Systems and Biomedical Engineering Lab

REPUBLICA CHECA

Capital City Prague
PRAHA

Epilepsy genetics: To solve unsolvable cases with combined OMICs tools
University Hospital Motol
Department of Pediatric Neurology

ESPANHA

Cataluña
BARCELONA

Financiado por um membro do IRDiRCEvaluation of NGS candidate genes causality in developmental epileptic encephalopathies
Vall d'Hebron Institut de Recerca VHIR
Vall d'Hebron Institut de Recerca

ITALIA

LAZIO
ROMA

Financiado por um membro do IRDiRCDiverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

ALEMANHA

Baden-Württemberg
MANNHEIM

ALEMANHA

Bayern
ERLANGEN

Characterization of HCMV-encoded regulatory proteins as target for antiviral therapy
Virologisches Institut des Universitätsklinikums Erlangen
Institut für Klinische und Molekulare Virologie

ALEMANHA

Bayern
ERLANGEN

Interference of the viral effector proteins pp71 and IE1 with intrinsic and innate immunity against human cytomegalovirus infections
Virologisches Institut des Universitätsklinikums Erlangen
Institut für Klinische und Molekulare Virologie

ALEMANHA

Bayern
WÜRZBURG

EpiScanGIS: an online geographic surveillance system for meningococcal disease
Institut für Hygiene und Mikrobiologie der Universität Würzburg
Nationales Referenzzentrum für Meningokokken

ALEMANHA

Berlin
BERLIN

Financiado por um membro do IRDiRCFunctional characterisation of the protein kinase cyclin-dependent kinase like 5 (CDKL5)
Max-Planck-Institut für molekulare Genetik
Abteilung Human Molecular Genetics

ALEMANHA

Hamburg
HAMBURG

Financiado por um membro do IRDiRCArbovirus surveillance and development of risk maps
Bernhard-Nocht-Institut für Tropenmedizin
Sektion Molekularbiologie und Immunologie - Arbeitsgruppe Schmidt-Chanasit

ALEMANHA

Niedersachsen
GÖTTINGEN

Development of therapeutic strategies for Rett syndrome
Universitätsmedizin Göttingen
Klinik für Kinder- und Jugendmedizin

ALEMANHA

Nordrhein-Westfalen
AACHEN

ALEMANHA

Nordrhein-Westfalen
AACHEN

ALEMANHA

Nordrhein-Westfalen
ESSEN

EuroEPINOMICS: Genetics of rare epilepsy syndromes - RES - DE
Universitätsklinikum Essen
Institut für Humangenetik

ALEMANHA

Nordrhein-Westfalen
KÖLN

Generation and characterization of new mouse models and transcription profiling (FOR 2715: Epileptogenesis of genetic epilepsies)
Cologne Center for Genomics (CCG) der Universität zu Köln
Cologne Center for Genomics

ALEMANHA

Sachsen
DRESDEN

Genetics of cortical malformations
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Institut für Klinische Genetik

ALEMANHA

Schleswig-Holstein
KIEL

Genetic mechanisms of epileptic encephalopathies (FOR 2715: Epileptogenesis of genetic epilepsies)
Universitätsklinikum Schleswig-Holstein - Campus Kiel
Klinik für Kinder- und Jugendmedizin II : Neuropädiatrie und Sozialpädiatrie

ALEMANHA

Thüringen
JENA

Development of therapeutic strategies for Rett syndrome
Universitätsklinikum Jena
Klinik für Neuropädiatrie

AUSTRIA

TIROL
INNSBRUCK

Epitope specificity of MOG antibodies
Medizinische Universität Innsbruck
Universitätsklinik für Neurologie

AUSTRIA

WIEN
ADDRESS: NOT PROVIDED - AT

Financiado por um membro do IRDiRCNeuro-MIG: European Network on Brain Malformations - AT
Institution: Information not provided - AT

AUSTRIA

WIEN
ADDRESS: NOT PROVIDED - AT

BELGICA

ANTWERPEN
EDEGEM (ANTWERPEN)

BELGICA

ANTWERPEN
EDEGEM (ANTWERPEN)

GAGA: Identification of Gait Disorders in Children, Adolescents and Young Adults With Rare Genetic Diseases
Antwerp University Hospital - UZA
Pediatric neurology/Kinderneurologie

BELGICA

VLAAMS BRABANT
LEUVEN

Identification and characterisation of genes causing congenital anomalies and intellectual disability
UZ Leuven - Campus Gasthuisberg
Centrum Menselijke Erfelijkheid - UZ Leuven

BELGICA

VLAAMS BRABANT
LEUVEN

Molecular and functional pathogenesis in NF1 and related diseases
UZ Leuven - Campus Gasthuisberg
Centrum Menselijke Erfelijkheid - UZ Leuven

ESPANHA

Cataluña
BADALONA

Financiado por um membro do IRDiRCImpact of cellular, genetic and epigenetic heterogeneity in the progression and treatment of peripheral nervous system tumors associated to Neurofibromatosis type 1
Instituto de Investigación Germans Trias i Pujol
Fundació Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol

ESPANHA

Cataluña
BARCELONA

ESPANHA

Cataluña
ESPLUGUES DE LLOBREGAT

ESPANHA

Comunidad Valenciana
SANT JOAN D'ALACANT

Neuronal Spurious Transcription And Enhanceropathy In The Etiology Of Intellectual Disability
Instituto de Neurociencias de Alicante (CSIC-UMH)
Regulación transcripcional de la plasticidad neural

ESTADOS UNIDOS

California
LA JOLLA

Understanding the mechanism of GNAO1's role in brain cells communication
The Scripps Research Institute
Department of Neuroscience

ESTADOS UNIDOS

California
SAN FRANCISCO

A zebrafish drug discovery program for GNAO1
University of California, San Francisco
University of California

ESTADOS UNIDOS

Michigan
EAST LANSING

Mouse models creation for the study of GNAO1-related neurodevelopmental gene mutations
Michigan State University
Department of Pharmacology and Toxicology

ESTADOS UNIDOS

Missouri
SAINT LOUIS

GNAO1 natural history study
Washington University
Pediatric neurology

ESTADOS UNIDOS

Virginia
CHARLOTTESVILLE

iPSCs models creation for GNAO1-related disorders
University of Virginia Health System
Department of Biochemistry and Molecular Genetics

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCThalamocortical circuit defects in developmental brain disorders
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCHost factors and bacterial meningitis
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCTargeting tumors with nf1 loss
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCClinical and molecular studies of malformations
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCGenetics of brain development
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCMolecular studies of malformations
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCSingle-molecule sequence assembly and analysis
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCMechanotransduction and the regulation of skeletal muscle mass
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 IRDiRCMechanisms of nf1 pathophysiology underlying hyperactivity
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCFilamin a in tsc
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCThe mechanism of rett syndrome rescue by astrocytes
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCMechanisms of synapse remodeling in tsc
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCMitochondrial ros and microglia in rett syndrome
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCSocial competence in youth with neurofibromatosis type 1
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCPhenotypic characterization of mecp2 mice
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 IRDiRCRare & Mosaic Disorders - Clinical Research
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCRare & Mosaic Disorders Molecular Research
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

FINLANDIA

Finland
HELSINKI

FINLANDIA

Finland
TURKU

Clinical research study on neurofibromatosis type 1 in Finland
University of Turku
Institute of Biomedicine

FRANCA

AUVERGNE-RHONE-ALPES
LYON

Pharmacodynamic study of treatments used in congenital toxoplasmosis
CHU de Lyon HCL - GH Nord-Hôpital de la Croix Rousse
Service de parasitologie et de mycologie médicale - Institut des Agents Infectieux

FRANCA

AUVERGNE-RHONE-ALPES
PRAGUE

Financiado por um membro do IRDiRCNeurofibromatosis type 1 Disease Model
Faculty of Medicine and University Hospital Motol
Department of Pediatrics

FRANCA

CENTRE-VAL DE LOIRE
ORLÉANS

Financiado por um membro do IRDiRCCliNeF1 : First preclinical validation of LOOK / ROCK inhibitors for the treatment of neurofibromatosis type 1
UPR4301 Centre de biophysique moléculaire (CBM)
Equipe signalisation cellulaire et neurofibromatose

FRANCA

CENTRE-VAL DE LOIRE
TOURS

Study of New Potential Biomarkers of Lymphangioleiomyomatosis: Determination of Cathepsin K, Cystatin C, Collagen Telopeptides and Chondroitin Sulfates
CHRU de Tours - Hôpital Bretonneau
Service de Pneumologie et explorations fonctionnelles respiratoires

FRANCA

GRAND-EST
ILLKIRCH-GRAFFENSTADEN

Financiado por um membro do IRDiRCMECPer-3D: Personalized MECP2 gene therapy using CRISPR/Cas9 technology coupled to AAV-mediated delivery in 3D cell culture and KI mice - FR
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Médecine translationnelle et neurogénétique

FRANCA

GRAND-EST
REIMS

Evalution of T. gondii (from maternofoetal or neonatal sampling) molecular typing therapeutic interest
UFR de Médecine de Reims IFR 53
Protozooses transmises par l'alimentation (Cryptosporidiose, Giardiose et Toxoplasmose)

FRANCA

GRAND-EST
REIMS

Virulence factors in T. gondii; ABC binding protein; role of matricial metalloproteinases in cell invasion
UFR de Médecine de Reims IFR 53
Protozooses transmises par l'alimentation (Cryptosporidiose, Giardiose et Toxoplasmose)

FRANCA

ILE-DE-FRANCE
CRÉTEIL

Financiado por um membro do IRDiRCPharmacological approaches for the treatment of NF1 bone manifestations
Hôpitaux Universitaires Henri Mondor
CHU Henri Mondor

FRANCA

ILE-DE-FRANCE
PARIS

Implementation of non-invasive prenatal diagnosis of rare and severe monogenic diseases
AP-HP.Centre - Université de Paris - Hôpital Cochin
Service de Médecine Génomique des Maladies de Système et d'Organe

FRANCA

ILE-DE-FRANCE
PARIS

Financiado por um membro do IRDiRCDevelopment of effective strategies for treatment of cutaneous neurofibromas in Neurofibromatosis type 1-FR
ENS - École Normale Supérieure
Institut de Biologie de l'École Normale Supérieure (IBENS) - CNRS UMR8197 / Inserm U1024

FRANCA

ILE-DE-FRANCE
PARIS

Financiado por um membro do IRDiRCInnate immune deficiencies in severe brainstem infections
IMAGINE - Institut des Maladies Génétiques
Equipe "Génétique humaine des maladies infectieuses - Génétique Mendélienne"

FRANCA

ILE-DE-FRANCE
PARIS

Research on monogenic epilepsies: partial familial, myoclonic juvenile with autosomic recessive transmission, febrile convulsions linked to generalised epilepsy
Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
Equipe "Excitabilité, synapse & pathologies associées"

FRANCA

ILE-DE-FRANCE
VILLEJUIF

FRANCA

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Financiado por um membro do IRDiRCPreclinical research on diseases caused by MI dysfunction
Faculté de Médecine de la Timone
Marseille Medical Genetics Center - Inserm U1251

FRANCA

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

FRANCA

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Financiado por um membro do IRDiRCPre-clinical research for diseases caused by KCNQ2 dysfunction
Faculté de Médecine de la Timone
Marseille Medical Genetics Center - Inserm U1251

ITALIA

CAMPANIA
NAPOLI

ITALIA

CAMPANIA
NAPOLI

Analysis of KDM5C mutations detected in patients with ASD and ID
Istituto di Genetica e Biofisica "Adriano Buzzati Traverso" - CNR
Human Molecular Neurogenetics Laboratoty

ITALIA

LAZIO
ROMA

Financiado por um membro do IRDiRCInnovative therapeutic approaches for CDKL5 Deficiency Disorder, a rare neurodevelopmental disorder of genetic origin
ISS - Istituto Superiore di Sanità
Centro di Riferimento per le Scienze Comportamentali e la Salute Mentale

ITALIA

LAZIO
ROMA

Financiado por um membro do IRDiRCInnovative therapeutic approaches for Rett syndrome, a rare neurodevelopmental disorder of genetic origin
ISS - Istituto Superiore di Sanità
Centro di Riferimento per le Scienze Comportamentali e la Salute Mentale

ITALIA

LOMBARDIA
MILANO

Financiado por um membro do IRDiRCRescuing epilepsy associated with SYN1 gene mutations by inhibiting eEF2K/eEF2 pathway
Consiglio Nazionale delle Ricerche
Istituto di Neuroscienze

ITALIA

LOMBARDIA
MILANO

Financiado por um membro do IRDiRCCongenital Rett Syndrome cellular and mouse models for the study of FOXG1 impact on forebrain neurogenesis
IRCCS Ospedale San Raffaele
Fondazione Centro San Raffaele del Monte Tabor - Divisione di Medicina Rigenerativa Cellule Staminali e Terapia Genica (DMR)

ITALIA

LOMBARDIA
MILANO

Financiado por um membro do IRDiRCExploiting whole-brain strategies of gene therapy and novel therapeutic targets in Rett syndrome mouse models
IRCCS Ospedale San Raffaele
Fondazione Centro San Raffaele del Monte Tabor - Divisione di Medicina Rigenerativa Cellule Staminali e Terapia Genica (DMR)

ITALIA

TOSCANA
PISA

Financiado por um membro do IRDiRCIntracellular chloride dynamics in autistic brain: a better understanding is needed for tailored cures
Consiglio Nazionale delle Ricerche - NEST
Istituto di Nanoscienze

ITALIA

TOSCANA
SIENA

Analysis of HLA genes to assess genetic susceptibility to vaccines as a component of the pathogenesis of Rett syndrome
Azienda Ospedaliero Universitaria Senese - Policlinico Santa Maria alle Scotte
U.O.C. di Genetica Medica

ITALIA

TOSCANA
SIENA

Study protocol for the application of the test array-CGH in prenatal diagnosis in Rett syndrome
Azienda Ospedaliero Universitaria Senese - Policlinico Santa Maria alle Scotte
U.O.C. di Genetica Medica

ITALIA

TOSCANA
SIENA

Financiado por um membro do IRDiRCMECPer-3D: Personalized MECP2 gene therapy using CRISPR/Cas9 technology coupled to AAV-mediated delivery in 3D cell culture and KI mice - IT
Azienda Ospedaliero Universitaria Senese - Policlinico Santa Maria alle Scotte
U.O.C. di Genetica Medica

ITALIA

VENETO
PADOVA

NORUEGA

Østlandet
OSLO

Effectiveness and safety of mTOR-inhibitor in patients with tuberous sclerosis complex
Oslo University Hospital, Ullevaal
NevSom - Nasjonalt kompetansesenter for nevroutviklingsforstyrrelser og hypersomier

PAISES BAIXOS

Noord-Holland
AMSTERDAM

Financiado por um membro do IRDiRCTicking on Pandora's box
Amsterdam UMC
Amsterdams UMC Multidisciplinair Lyme Centrum

PAISES BAIXOS

Utrecht
ADDRESS: NOT PROVIDED - NL

POLONIA

Kraków
ADDRESS: NOT PROVIDED - PL

PORTUGAL

NORTE
PORTO

LIMP-2: da genética clínica à genómica funcional
Instituto de Biologia Molecular e Celular
Unidade de Biologia do Lisossoma e do Peroxissoma

SUICA

Suisse Alémanique
BASEL

SUICA

Suisse Italienne
BELLINZONA

Human antibodies to tick-borne flaviviruses
Istituto di Ricerca in Biomedicina
Istituto di Ricerca in Biomedicina (IRB)

SUICA

Suisse Romande
GENÈVE

SUICA

Suisse Romande
GENÈVE

Non-cell-autonomous circadian regulation of brain function
UNIGE Université de Genève
Département de Génétique et Evolution

SUICA

Suisse Romande
LAUSANNE

Immunogenetics of Viral Infections - Focus on human herpes simplex virus I
Centre Hospitalier Universitaire Vaudois CHUV
Service des maladies infectieuses

ALEMANHA

Baden-Württemberg
FREIBURG

Parent survey on the natural history of pontocerebellar hypoplasia type 2 (PCH2) using a questionnaire
Zentrum für Kinder- und Jugendmedizin Freiburg
Klinik für Neuropädiatrie und Muskelerkrankungen

ALEMANHA

Baden-Württemberg
TÜBINGEN

Brain region-specific epileptogenesis in a conditional mouse model (FOR 2715: Epileptogenesis of genetic epilepsies)
Hertie-Institut für klinische Hirnforschung (HIH)
Abteilung für Neurologie mit Schwerpunkt Epileptologie

ALEMANHA

Baden-Württemberg
TÜBINGEN

Financiado por um membro do IRDiRCSCN1A-up!: Therapeutic strategies for Dravet syndrome: upregulation of endogenous SCN1A and modulation of remodeling -DE
Hertie-Institut für klinische Hirnforschung (HIH)
Abteilung für Neurologie mit Schwerpunkt Epileptologie

BELGICA

VLAAMS BRABANT
LEUVEN

Financiado por um membro do IRDiRCSCN1A-up!: Therapeutic strategies for Dravet syndrome: upregulation of endogenous SCN1A and modulation of remodeling - BE
Moleculaire Bio-ontdekking - Campus Gasthuisberg KU Leuven
Moleculaire Bio-ontdekking - Departement Farmaceutische en Farmacologische Wetenschappen

CANADA

Ontario
TORONTO

Financiado por um membro do IRDiRCImproving treatment for GRIN disorders
University of Toronto
Department of Pharmacology & Toxicology

ESPANHA

Cataluña
BARCELONA

SYNGAP1 national patient registry and creation of a platform for clinical and basic studies
IIB Sant Pau - Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
Grupo de investigación en Fisiología Molecular de la Sinapsis

ESPANHA

Cataluña
ESPLUGUES DE LLOBREGAT

SYNGAP1 national patient registry and creation of a platform for clinical and basic studies
Hospital Sant Joan de Déu Barcelona
Unidad de Enfermedades Metabólicas Congénitas

ESPANHA

Cataluña
L'HOSPITALET DE LLOBREGAT

Financiado por um membro do IRDiRCComprehensive delineation and personalized medicine of GRIN-related neurodevelopmental disorders, a rare paediatric encephalopathy
IDIBELL - Instituto de Investigación Biomédica de Bellvitge
Grupo de Neurofarmacología y Dolor

ESPANHA

Madrid
MADRID

Financiado por um membro do IRDiRCThe study of the CB2 receptor role as a therapeutic target in the Dravet syndrome
Hospital Universitario Ramón y Cajal
Fundación para la Investigación Biomédica del Hospital Universitario Ramón y Cajal

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 IRDiRCFunctional Genetics of the Neuronal Sodium Channel Gene SCN8A
Institution: Information not provided - US

FINLANDIA

Finland
HELSINKI

Molecular genetics of progressive myoclonus epilepsies
Folkhälsan
Folkhälsan Research Center

FRANCA

ILE-DE-FRANCE
PARIS

Financiado por um membro do IRDiRCLost in translation: RNA methylation control translation in ID patient mutated in FTSJ1a
INSTITUT DE BIOLOGIE PARIS - SEINE
UMR 7622 - Biologie du Développement

FRANCA

OCCITANIE
MONTPELLIER

Financiado por um membro do IRDiRCTargeting exogenous NaV1.1 activity to inhibitory neurons in Dravet syndrome mice
Institut de génétique moléculaire
Institut de Génétique Moléculaire de Montpellier

FRANCA

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Genotypic and phenotypic analysis of early onset epileptic encephalopathies
Faculté de Médecine de la Timone
Marseille Medical Genetics Center - Inserm U1251

FRANCA

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Financiado por um membro do IRDiRCHETER-OMICS: Multi-OMICS interrogation of cerebral cortical malformations - FR
Institut de neurobiologie de la méditerranée (INMED)
Bases moléculaires et physiopathologie des malformations du cortex cérébral

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

CAMPANIA
NAPOLI

Financiado por um membro do IRDiRCFinding new targets to counteract brain progenitor cells dysregulation in AGC1 deficiency hypomyelination a multi-disciplinary approach
Istituto di Genetica e Biofisica "Adriano Buzzati Traverso" - CNR
Istituto di Genetica e Biofisica "Adriano Buzzati-Traverso"

ITALIA

EMILIA ROMAGNA
BOLOGNA

Financiado por um membro do IRDiRCFinding new targets to counteract brain progenitor cells dysregulation in AGC1 deficiency hypomyelination a multi-disciplinary approach
Università di Bologna - Scienze Biologiche, Geologiche ed Ambientali
Dipartimento di Farmacia e Biotecnologie

ITALIA

LOMBARDIA
MILANO

Financiado por um membro do IRDiRCGenetic and pharmacological rescue of TM4SF2 loss of function in animal model and iPS cells
Consiglio Nazionale delle Ricerche
Istituto di Neuroscienze

ITALIA

LOMBARDIA
MILANO

Financiado por um membro do IRDiRCSCN1A-up!: Therapeutic strategies for Dravet syndrome: upregulation of endogenous SCN1A and modulation of remodeling - IT
IRCCS Ospedale San Raffaele
Fondazione Centro San Raffaele del Monte Tabor - Divisione di Medicina Rigenerativa Cellule Staminali e Terapia Genica (DMR)

REINO UNIDO

Merseyside
LIVERPOOL

Changing agendas on sleep, treatment and learning in childhood epilepsy
Alder Hey Children's Hospital
Clinical Trials Research Centre

SUICA

Suisse Alémanique
ZÜRICH

ALEMANHA

Niedersachsen
HANNOVER

Financiado por um membro do IRDiRCPREDACTING: Predicting the clinical outcome of non-muscle actinopathies- DE
Medizinische Hochschule Hannover
Institut für Biophysikalische Chemie

ALEMANHA

Sachsen
DRESDEN

Financiado por um membro do IRDiRCPREDACTING: Predicting the clinical outcome of non-muscle actinopathies- DE
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Institut für Klinische Genetik

ALEMANHA

Sachsen
DRESDEN

Modelling of nonmuscle actinopathies in brain organoids
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Institut für Klinische Genetik

ESPANHA

Comunidad Valenciana
VALENCIA

Lafora Disease: role of glia in the production of aberrant glycogen and neuroinflammation
Instituto de Biomedicina de Valencia (CSIC)
Unidad de Señalización por Nutrientes

ESTADOS UNIDOS

South Dakota
SOUTH DAKOTA

ESTADOS UNIDOS

South Dakota
SOUTH DAKOTA

Financiado por um membro do IRDiRCMultifaceted preclinical studies for the treatment of Batten Disease
Sanford Research/University of South Dakota
WEIMER LAB - Department of Pediatrics

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCProj 4: chemical chaperone therapy of batten disease
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCMitochondrial encephalomyopathies and mental retardation
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

FINLANDIA

Finland
HELSINKI

The rare diseases of Finnish heritage MIRAS, IOSCA, AHS and EPM1 and their disease mechanisms
University of Helsinki
Stem Cells and Metabolism Research Program

FINLANDIA

Finland
KUOPIO

The rare diseases of Finnish heritage MIRAS, IOSCA, AHS and EPM1 and their disease mechanisms
University of Eastern Finland
Institute of Clinical Medicine

FRANCA

AUVERGNE-RHONE-ALPES
PRAGUE

FRANCA

AUVERGNE-RHONE-ALPES
PRAGUE

FRANCA

AUVERGNE-RHONE-ALPES
PRAGUE

Financiado por um membro do IRDiRCPig models for Ataxia telangiectasia and Batten disease
Faculty of Medicine and University Hospital Motol
Department of Pediatrics

FRANCA

AUVERGNE-RHONE-ALPES
PRAGUE

Financiado por um membro do IRDiRCMultifaceted preclinical studies for the treatment of Batten Disease
Faculty of Medicine and University Hospital Motol
Department of Pediatrics

FRANCA

GRAND-EST
ILLKIRCH-GRAFFENSTADEN

Financiado por um membro do IRDiRCPREDACTING: 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

FRANCA

ILE-DE-FRANCE
PARIS

Financiado por um membro do IRDiRCChlorine deregulation in Focal cortical dysplasias
Hôpital Necker-Enfants Malades
Service de Neurochirurgie pédiatrique

HUNGRIA

Közép-Magyarország
BUDAPEST

Financiado por um membro do IRDiRCPREDACTING: Predicting the clinical outcome of non-muscle actinopathies - HU
Semmelweis University
Department of Biophysics and Radiation Biology

ITALIA

LIGURIA
GENOVA

ITALIA

LOMBARDIA
MILANO

Financiado por um membro do IRDiRCNeuroserpin misfolding and FENIB neurodegeneration: mechanism and inhibition processes
Università degli Studi di Milano - Scienze Biomolecolari e Biotecnologiche
Unità di Espressione Genica, Ciclo Cellulare e Stabilità del Genoma

ITALIA

TOSCANA
SESTO FIORENTINO (FIRENZE)

Financiado por um membro do IRDiRCPREDACTING: Predicting the clinical outcome of non-muscle actinopathies - IT
Università degli Studi di Firenze
Dipartimento di Biologia

AUSTRIA

WIEN
ADDRESS: NOT PROVIDED - AT

Cerliponase alfa Observational Study - AT
Institution: Information not provided - AT

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCThe role of dystroglycan in neural circuit development.
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCDetermining the role of CLN3 in the eye
Institution: Information not provided - US

Projetos de investigação multicêntricos