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208 Risultato/i

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Progetti di ricerca terminati = Finanziato da un ente associato a IRDiRC = Membro di una ERN =

Progetti di ricerca

NORVEGIA

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

NORVEGIA

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

PORTOGALLO

SUL
LISBOA

Noninvasive dynamic neuroimaging in epilepsy
Instituto Superior Técnico
LaSEEB-Evolutionary Systems and Biomedical Engineering Lab

REPUBBLICA CECA

Capital City Prague
PRAHA

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

SPAGNA

Galicia
A CORUÑA

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

Cataluña
BARCELONA

Finanziato da un ente associato a IRDiRCEvaluation of NGS candidate genes causality in developmental epileptic encephalopathies
Vall d'Hebron Institut de Recerca VHIR
Vall d'Hebron Institut de Recerca

AUSTRIA

TIROL
INNSBRUCK

Epitope specificity of MOG antibodies
Medizinische Universität Innsbruck
Universitätsklinik für Neurologie

AUSTRIA

WIEN
ADDRESS: NOT PROVIDED - AT

Finanziato da un ente associato a IRDiRCNeuro-MIG: European Network on Brain Malformations - AT
Institution: Information not provided - AT

AUSTRIA

WIEN
ADDRESS: NOT PROVIDED - AT

BELGIO

ANTWERPEN
EDEGEM (ANTWERPEN)

BELGIO

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

BELGIO

VLAAMS BRABANT
LEUVEN

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

BELGIO

VLAAMS BRABANT
LEUVEN

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

FINLANDIA

Finland
HELSINKI

FINLANDIA

Finland
TURKU

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

FRANCIA

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

FRANCIA

AUVERGNE-RHONE-ALPES
PRAGUE

Finanziato da un ente associato a IRDiRCNeurofibromatosis type 1 Disease Model
Faculty of Medicine and University Hospital Motol
Department of Pediatrics

FRANCIA

CENTRE-VAL DE LOIRE
ORLÉANS

Finanziato da un ente associato a 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

FRANCIA

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

FRANCIA

GRAND-EST
ILLKIRCH-GRAFFENSTADEN

Finanziato da un ente associato a 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

FRANCIA

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)

FRANCIA

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)

FRANCIA

ILE-DE-FRANCE
CRÉTEIL

Finanziato da un ente associato a IRDiRCPharmacological approaches for the treatment of NF1 bone manifestations
Hôpitaux Universitaires Henri Mondor
CHU Henri Mondor

FRANCIA

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

FRANCIA

ILE-DE-FRANCE
PARIS

Finanziato da un ente associato a 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

FRANCIA

ILE-DE-FRANCE
PARIS

Finanziato da un ente associato a IRDiRCInnate immune deficiencies in severe brainstem infections
IMAGINE - Institut des Maladies Génétiques
Equipe "Génétique humaine des maladies infectieuses - Génétique Mendélienne"

FRANCIA

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"

FRANCIA

ILE-DE-FRANCE
VILLEJUIF

FRANCIA

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Finanziato da un ente associato a IRDiRCPreclinical research on diseases caused by MI dysfunction
Faculté de Médecine de la Timone
Marseille Medical Genetics Center - Inserm U1251

FRANCIA

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

FRANCIA

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Finanziato da un ente associato a IRDiRCPre-clinical research for diseases caused by KCNQ2 dysfunction
Faculté de Médecine de la Timone
Marseille Medical Genetics Center - Inserm U1251

GERMANIA

Baden-Württemberg
MANNHEIM

GERMANIA

Bayern
ERLANGEN

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

GERMANIA

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

GERMANIA

Bayern
WÜRZBURG

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

GERMANIA

Berlin
BERLIN

Finanziato da un ente associato a IRDiRCFunctional characterisation of the protein kinase cyclin-dependent kinase like 5 (CDKL5)
Max-Planck-Institut für molekulare Genetik
Abteilung Human Molecular Genetics

GERMANIA

Hamburg
HAMBURG

Finanziato da un ente associato a IRDiRCArbovirus surveillance and development of risk maps
Bernhard-Nocht-Institut für Tropenmedizin
Sektion Molekularbiologie und Immunologie - Arbeitsgruppe Schmidt-Chanasit

GERMANIA

Niedersachsen
GÖTTINGEN

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

GERMANIA

Nordrhein-Westfalen
AACHEN

GERMANIA

Nordrhein-Westfalen
AACHEN

GERMANIA

Nordrhein-Westfalen
ESSEN

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

GERMANIA

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

GERMANIA

Sachsen
DRESDEN

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

GERMANIA

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

GERMANIA

Thüringen
JENA

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

ITALIA

CAMPANIA
NAPOLI

Ricerca di mutazioni nel gene KDM5C mutato in pazienti affetti da autismo e disabilità intellettiva
Istituto di Genetica e Biofisica "Adriano Buzzati Traverso" - CNR
Human Molecular Neurogenetics Laboratoty

ITALIA

LAZIO
ROMA

Finanziato da un ente associato a IRDiRCApprocci terapeutici innovativi per l'encefalopatia epilettica correlata a CDKL5, una rara malattia del neurosviluppo di origine genetica
ISS - Istituto Superiore di Sanità
Centro di Riferimento per le Scienze Comportamentali e la Salute Mentale

ITALIA

LAZIO
ROMA

Finanziato da un ente associato a IRDiRCApprocci terapeutici innovativi per la sindrome di Rett, una rara malattia del neurosviluppo di origine genetica
ISS - Istituto Superiore di Sanità
Centro di Riferimento per le Scienze Comportamentali e la Salute Mentale

ITALIA

LOMBARDIA
MILANO

Finanziato da un ente associato a IRDiRCSindrome di Rett congenita modelli cellulari e murini per lo studio del ruolo di FOXG1 nella neurogenesi
IRCCS Ospedale San Raffaele
Fondazione Centro San Raffaele del Monte Tabor - Divisione di Medicina Rigenerativa Cellule Staminali e Terapia Genica (DMR)

ITALIA

LOMBARDIA
MILANO

Finanziato da un ente associato a IRDiRCStrategie innovative di terapia genica e nuovi bersagli terapeutici nei modelli murini di sindrome di Rett
IRCCS Ospedale San Raffaele
Fondazione Centro San Raffaele del Monte Tabor - Divisione di Medicina Rigenerativa Cellule Staminali e Terapia Genica (DMR)

ITALIA

TOSCANA
SIENA

Analisi dei geni HLA per valutare la suscettibilità genetica ai vaccini come componente della patogenesi della sindrome di Rett
Azienda Ospedaliero Universitaria Senese - Policlinico Santa Maria alle Scotte
U.O.C. di Genetica Medica

ITALIA

TOSCANA
SIENA

Protocollo di studio per l'applicazione del test array-CGH in diagnosi prenatale nella Sindrome di Rett
Azienda Ospedaliero Universitaria Senese - Policlinico Santa Maria alle Scotte
U.O.C. di Genetica Medica

ITALIA

TOSCANA
SIENA

Finanziato da un ente associato a IRDiRCMECPer-3D: terapia genica personalizzata per MECP2 utilizzando la tecnologia CRISPR/Cas9 mediata da vettore AAV in colture cellulari 3D e topi KI - IT
Azienda Ospedaliero Universitaria Senese - Policlinico Santa Maria alle Scotte
U.O.C. di Genetica Medica

NORVEGIA

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

PAESI BASSI

Noord-Holland
AMSTERDAM

Finanziato da un ente associato a IRDiRCTicking on Pandora's box
Amsterdam UMC
Amsterdams UMC Multidisciplinair Lyme Centrum

PAESI BASSI

Utrecht
ADDRESS: NOT PROVIDED - NL

POLONIA

Kraków
ADDRESS: NOT PROVIDED - PL

PORTOGALLO

NORTE
PORTO

LIMP-2 studies: from clinical genetics to functional genomics and back (studies in action myoclonus-renal failure syndrome (AMRF))
Instituto de Biologia Molecular e Celular
Unidade de Biologia do Lisossoma e do Peroxissoma

SPAGNA

Cataluña
BADALONA

Finanziato da un ente associato a 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

SPAGNA

Cataluña
BARCELONA

SPAGNA

Cataluña
ESPLUGUES DE LLOBREGAT

SPAGNA

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

STATI UNITI

California
LA JOLLA

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

STATI UNITI

California
SAN FRANCISCO

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

STATI UNITI

Michigan
EAST LANSING

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

STATI UNITI

Missouri
SAINT LOUIS

GNAO1 natural history study
Washington University
Pediatric neurology

STATI UNITI

Virginia
CHARLOTTESVILLE

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

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCThalamocortical circuit defects in developmental brain disorders
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCHost factors and bacterial meningitis
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCTargeting tumors with nf1 loss
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCClinical and molecular studies of malformations
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCGenetics of brain development
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCMolecular studies of malformations
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCSingle-molecule sequence assembly and analysis
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 IRDiRCMechanotransduction and the regulation of skeletal muscle mass
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

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCMechanisms of nf1 pathophysiology underlying hyperactivity
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCFilamin a in tsc
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCThe mechanism of rett syndrome rescue by astrocytes
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCMechanisms of synapse remodeling in tsc
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 IRDiRCMitochondrial ros and microglia in rett syndrome
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCSocial competence in youth with neurofibromatosis type 1
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCPhenotypic characterization of mecp2 mice
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

Finanziato da un ente associato a IRDiRCRare & Mosaic Disorders - Clinical Research
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCRare & Mosaic Disorders Molecular Research
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

SVIZZERA

Suisse Alémanique
BASEL

SVIZZERA

Suisse Italienne
BELLINZONA

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

SVIZZERA

Suisse Romande
GENÈVE

SVIZZERA

Suisse Romande
GENÈVE

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

SVIZZERA

Suisse Romande
LAUSANNE

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

BELGIO

VLAAMS BRABANT
LEUVEN

Finanziato da un ente associato a 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

Finanziato da un ente associato a IRDiRCImproving treatment for GRIN disorders
University of Toronto
Department of Pharmacology & Toxicology

FINLANDIA

Finland
HELSINKI

Molecular genetics of progressive myoclonus epilepsies
Folkhälsan
Folkhälsan Research Center

FRANCIA

ILE-DE-FRANCE
PARIS

Finanziato da un ente associato a IRDiRCLost in translation: RNA methylation control translation in ID patient mutated in FTSJ1a
INSTITUT DE BIOLOGIE PARIS - SEINE
UMR 7622 - Biologie du Développement

FRANCIA

OCCITANIE
MONTPELLIER

Finanziato da un ente associato a IRDiRCTargeting exogenous NaV1.1 activity to inhibitory neurons in Dravet syndrome mice
Institut de génétique moléculaire
Institut de Génétique Moléculaire de Montpellier

FRANCIA

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

FRANCIA

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Finanziato da un ente associato a 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

GERMANIA

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

GERMANIA

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

GERMANIA

Baden-Württemberg
TÜBINGEN

Finanziato da un ente associato a 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

ITALIA

CAMPANIA
NAPOLI

Studio delle mutazioni del gene ARX identificate in pazienti affetti da malattie del neurosviluppo
Istituto di Genetica e Biofisica "Adriano Buzzati Traverso" - CNR
Human Molecular Neurogenetics Laboratoty

ITALIA

CAMPANIA
NAPOLI

Finanziato da un ente associato a IRDiRCAlla ricerca di nuovi bersagli terapeutici per contrastare l'ipomielinizzazione nell'AGC1 deficiency uno studio multidisciplinare sui precursori delle cellule cerebrali
Istituto di Genetica e Biofisica "Adriano Buzzati Traverso" - CNR
Istituto di Genetica e Biofisica "Adriano Buzzati-Traverso"

ITALIA

EMILIA ROMAGNA
BOLOGNA

Finanziato da un ente associato a IRDiRCAlla ricerca di nuovi bersagli terapeutici per contrastare l'ipomielinizzazione nell'AGC1 deficiency uno studio multidisciplinare sui precursori delle cellule cerebrali
Università di Bologna - Scienze Biologiche, Geologiche ed Ambientali
Dipartimento di Farmacia e Biotecnologie

ITALIA

LOMBARDIA
MILANO

Finanziato da un ente associato a 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)

REGNO UNITO; GRAN BRETAGNA

Merseyside
LIVERPOOL

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

SPAGNA

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

SPAGNA

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

SPAGNA

Cataluña
L'HOSPITALET DE LLOBREGAT

Finanziato da un ente associato a 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

SPAGNA

Madrid
MADRID

Finanziato da un ente associato a 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

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

SVIZZERA

Suisse Alémanique
ZÜRICH

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

FRANCIA

AUVERGNE-RHONE-ALPES
PRAGUE

FRANCIA

AUVERGNE-RHONE-ALPES
PRAGUE

FRANCIA

AUVERGNE-RHONE-ALPES
PRAGUE

Finanziato da un ente associato a IRDiRCPig models for Ataxia telangiectasia and Batten disease
Faculty of Medicine and University Hospital Motol
Department of Pediatrics

FRANCIA

AUVERGNE-RHONE-ALPES
PRAGUE

Finanziato da un ente associato a IRDiRCMultifaceted preclinical studies for the treatment of Batten Disease
Faculty of Medicine and University Hospital Motol
Department of Pediatrics

FRANCIA

GRAND-EST
ILLKIRCH-GRAFFENSTADEN

Finanziato da un ente associato a 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

FRANCIA

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

FRANCIA

ILE-DE-FRANCE
PARIS

Finanziato da un ente associato a IRDiRCChlorine deregulation in Focal cortical dysplasias
Hôpital Necker-Enfants Malades
Service de Neurochirurgie pédiatrique

GERMANIA

Niedersachsen
HANNOVER

Finanziato da un ente associato a IRDiRCPREDACTING: Predicting the clinical outcome of non-muscle actinopathies- DE
Medizinische Hochschule Hannover
Institut für Biophysikalische Chemie

GERMANIA

Sachsen
DRESDEN

Finanziato da un ente associato a IRDiRCPREDACTING: Predicting the clinical outcome of non-muscle actinopathies- DE
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Institut für Klinische Genetik

GERMANIA

Sachsen
DRESDEN

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

ITALIA

LOMBARDIA
MILANO

Finanziato da un ente associato a 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)

Finanziato da un ente associato a IRDiRCPREDACTING: Predicting the clinical outcome of non-muscle actinopathies - IT
Università degli Studi di Firenze
Dipartimento di Biologia

SPAGNA

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

STATI UNITI

South Dakota
SOUTH DAKOTA

STATI UNITI

South Dakota
SOUTH DAKOTA

Finanziato da un ente associato a IRDiRCMultifaceted preclinical studies for the treatment of Batten Disease
Sanford Research/University of South Dakota
WEIMER LAB - Department of Pediatrics

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCProj 4: chemical chaperone therapy of batten disease
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCMitochondrial encephalomyopathies and mental retardation
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

UNGHERIA

Közép-Magyarország
BUDAPEST

Finanziato da un ente associato a IRDiRCPREDACTING: Predicting the clinical outcome of non-muscle actinopathies - HU
Semmelweis University
Department of Biophysics and Radiation Biology

AUSTRIA

WIEN
ADDRESS: NOT PROVIDED - AT

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

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCThe role of dystroglycan in neural circuit development.
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCDetermining the role of CLN3 in the eye
Institution: Information not provided - US

Progetti di ricerca multicentrici