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Funded by an IRDiRC member =

Research projects

GERMANY

Bayern
WÜRZBURG

Funded by an IRDiRC memberDYSTRACT: Network on research and management of rare dystonia (coordination)
Neurologische Klinik und Poliklinik des Universitätsklinikums Würzburg
Neurologische Klinik und Poliklinik

UNITED STATES

Arizona
PHOENIX

Funded by an IRDiRC memberThe etiology of inherited neurological diseases
Phoenix Children's Hospital
Barrow Neurological Institute

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

AUSTRIA

STEIERMARK
GRAZ

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

CANADA

Ontario
TORONTO

FRANCE

GRAND-EST
ILLKIRCH-GRAFFENSTADEN

Funded by an IRDiRC memberDrugFXTAS: Identify a therapy strategy for FXTAS
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Médecine translationnelle et neurogénétique

FRANCE

ILE-DE-FRANCE
PARIS

Role of FOXG1/TLE1 complex in the neuronal proliferation-differentiation switch in patients derived neuronal stem/progenitor cells
IMAGINE - Institut des Maladies Génétiques
Equipe "Embryologie et Génétiques des malformations congénitales"

FRANCE

OCCITANIE
MONTPELLIER

FRANCE

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

FRANCE

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

GERMANY

Berlin
BERLIN

Functional characterisation of the protein kinase cyclin-dependent kinase like 5 (CDKL5)
Max-Planck-Institut für molekulare Genetik
Abteilung Human Molecular Genetics

GERMANY

Niedersachsen
GÖTTINGEN

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

IRELAND

County Dublin
DUBLIN

ITALY

LAZIO
ROMA

Funded by an IRDiRC memberCharacterization 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

ITALY

LAZIO
ROMA

Funded by an IRDiRC memberInnovative 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

ITALY

LAZIO
ROMA

Funded by an IRDiRC memberInnovative 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

ITALY

LAZIO
ROMA

Funded by an IRDiRC memberDiverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

ITALY

LAZIO
ROMA

Funded by an IRDiRC memberImproving quality standards in Italian laboratories performing genetic testing for rare diseases
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

ITALY

LOMBARDIA
MILANO

Funded by an IRDiRC memberCongenital 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)

ITALY

SARDEGNA
CAGLIARI

Study of phenotypic variability present in Wilson's disease
Ospedale Regionale per le Microcitemie
Laboratorio Epatopatie Genetiche

ITALY

TOSCANA
SIENA

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

ITALY

TOSCANA
SIENA

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

JAPAN

JAPAN
KUMAMOTO

Funded by an IRDiRC memberDevelopment of therapeutic agents for Fragile X associated tremor/ataxia syndrome (FXTAS).
Institute of Molecular Embryology and Genetics, Kumamoto University
Department of Genomic Neurology

JAPAN

JAPAN
TOKYO

Funded by an IRDiRC memberMolecular basis research for exploring inovative therapies of Rett syndrome
National Center of Neurology and Psychiatry
Department of Mental Retardation and Birth Defect Research

JAPAN

JAPAN
TOKYO

Funded by an IRDiRC memberComprehensive study for clinical support and making guideline of Rett syndrome and MECP2 duplication syndrome
National Center of Neurology and Psychiatry
Department of Mental Retardation and Birth Defect Research

SPAIN

Madrid
MADRID

UNITED KINGDOM

South Yorkshire
SHEFFIELD

EUROWILSON: European network on Wilson disease (coordination)
The Sheffield Children's Hospital
Sheffield Children's Hospital (Division of Child Health)

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberThalamocortical circuit defects in developmental brain disorders
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberTherapeutics for rare and neglected diseases - science
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberUsing a disease-affected cell to synthesize its own drug
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMechanisms of fmrp mediated translational repression
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberNeural coordination and discoordination in fmr1 null mice
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberThe mechanism of rett syndrome rescue by astrocytes
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberImpact of cognition on balance and gait markers for fxtas
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMitochondrial ros and microglia in rett syndrome
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberImpact of cgg repeats on fmr1 gene function and human health
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberPhenotypic characterization of mecp2 mice
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberProject 1: gene networks for social cognition in williams syndrome
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberProject 2: modeling williams syndrome using human neurons
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberProject 3: cellular architectonics and local circuits
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberProject 4: neuroimaging of social circuitry
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberProject 5: characterization of social phenotype
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberRescuing fragile x syndrome by targeting p70 s6 kinase 1
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberRescuing the fragile x syndrome by cpeb depletion
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberStrategies to rescue pi3k dysregulation in fragile x syndrome
Institution: Information not provided - US

BELGIUM

HAINAUT
GOSSELIES

Enroll-HD: A Prospective Registry Study in a Global Huntington's Disease Cohort - BE
Institut de Pathologie et de Génétique
Département de Génétique Clinique - Institut de Pathologie et de Génétique (IPG)

CANADA

Alberta
EDMONTON

Funded by an IRDiRC memberTherapeutic role of ganglioside GM1 in Huntington's disease
University of Alberta
Department of Pharmacology

CANADA

Colombie-Britannique
VANCOUVER

CANADA

Colombie-Britannique
VANCOUVER

Funded by an IRDiRC memberAltered balance of synaptic/extrasynaptic NMDA receptor signaling in Huntington disease
University of British Columbia
Centre for Huntington Disease- UBC Hospital

CANADA

Ontario
HAMILTON

Funded by an IRDiRC memberElucidating the Protective Mechanism of Phospho-N17 Huntingtin in Huntington's disease
McMaster University
Biochemistry and Biomedical Sciences

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

GRAND-EST
STRASBOURG

Funded by an IRDiRC memberEpiHD: Role of epigenetic mechanisms in Huntington's disease - FR
Faculté de Psychologie de Strasbourg
Laboratoire de Neurosciences Cognitives et Adaptatives (LNCA) - UMR 7364 / Université de Strasbourg / CNRS

FRANCE

ILE-DE-FRANCE
EVRY

STEM-HD: technological resources for mass cell production and culture of hES in Huntington's disease
GENOPOLE - Campus 1
I-Stem - Institut des cellules Souches pour le Traitement et l'Etude des maladies Monogéniques

FRANCE

ILE-DE-FRANCE
EVRY

STEM-HD: embryonic stem cells for therapy and exploration of mechanisms in Huntington disease (coordination)
GENOPOLE - Campus 1
I-Stem - Institut des cellules Souches pour le Traitement et l'Etude des maladies Monogéniques

FRANCE

ILE-DE-FRANCE
FONTENAY-AUX-ROSES

NEUROPRION: European network dedicated to research on prion diseases (coordination)
CEA - Commissariat à l'Energie Atomique
Service d'étude des prions et des infections atypiques

FRANCE

ILE-DE-FRANCE
PARIS

Development of therapeutic strategies for human degenerative diseases
Centre Paul Broca
Biologie et pathologie du neurone

FRANCE

NOUVELLE AQUITAINE
BORDEAUX

Funded by an IRDiRC memberParkington: Translational validation of neural organoid grafts for treating Parkinson's and Huntington diseases - FR
Université Bordeaux 2 - Victor Ségalen
Institut des Maladies Neurodégénératives (IMN) - CNRS UMR 5293

FRANCE

OCCITANIE
MONTPELLIER

Normal and pathological function of the prion protein
Institut de Recherches en Biothérapie (IRB)
Laboratoire de Biochimie - Plate-forme Régionale de Protéomique Clinique

FRANCE

PAYS DE LA LOIRE
ANGERS

Funded by an IRDiRC memberBehavioral disorders in Huntington's disease: Analysis and valorization of the expertise of the patients and their caregivers
Université d'Angers
Laboratoire de Psychologie des Pays de la Loire (UPRES EA 4638)

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

ITALY

CAMPANIA
NAPOLI

Funded by an IRDiRC memberRole of intracellular trafficking in the pathogenesis of inherited prion diseases
Azienda Ospedaliera Universitaria "Federico II"
Dipartimento di Biologia e Patologia cellulare

ITALY

EMILIA ROMAGNA
BOLOGNA

Enroll-HD - A Prospective Registry Study in a Global HD Cohort - IT
Università di Bologna - Istituto di Clinica Neurologica
Laboratorio di Neurogenetica

ITALY

LAZIO
ROMA

Analysis of apoptosis in neurodegenerative diseases by apaf1 conditional mutagenesis (terminated)
Università degli Studi di Roma Tor Vergata
Laboratorio di Genetica delle Popolazioni

ITALY

LOMBARDIA
MILANO

Funded by an IRDiRC memberTargeting neurons with cholesterol. How can it change the future of Huntington Disease patients
Università degli Studi di Milano - Scienze Biomolecolari e Biotecnologiche
Dipartimento di Bioscienze

JAPAN

JAPAN
KYOTO

PORTUGAL

CENTRO
COIMBRA

Analysis of transcription deregulation in brain and peripheral Huntington disease models - influence of modulating histone deacetylases.
Centro de Neurociências da Universidade de Coimbra
Grupo de Disfunção Mitocondrial e Morte Celular

PORTUGAL

SUL
FARO

SPAIN

Comunidad Valenciana
VALENCIA

Therapeutic strategy against Huntington disease through synergistic activation of AMPK
IIS La Fe - Instituto de Investigación Sanitaria La Fe
Grupo de investigación en biomedicina molecular, celular y genómica

SPAIN

Comunidad Valenciana
VALENCIA

Funded by an IRDiRC memberTherapeutic mechanisms and strategies in Huntington's disease using metformin and salicylate
IIS La Fe - Instituto de Investigación Sanitaria La Fe
Grupo de investigación en biomedicina molecular, celular y genómica

SPAIN

Comunidad Valenciana
VALENCIA

Degradation of huntingtin by camelid ubiquibodies
IIS La Fe - Instituto de Investigación Sanitaria La Fe
Grupo de investigación en biomedicina molecular, celular y genómica

SWEDEN

Region Skåne
LUND

BAGADILICO: Hypothalamic changes and biomarkers in Huntington's disease
Lund University
Department of Experimental Medical Science

SWEDEN

Region Skåne
LUND

SWEDEN

Region Stockholm
HUDDINGE

The functional organisation of the brain
Karolinska Institutet - Huddinge
Department of Clinical Neuroscience

SWITZERLAND

Suisse Romande
LAUSANNE

Toward gene repair for Huntington's disease
Centre Hospitalier Universitaire Vaudois CHUV
Laboratoire des neurothérapies et neuromodulation

SWITZERLAND

Suisse Romande
LAUSANNE

UNITED KINGDOM

Cardiff
CARDIFF

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberNanocarriers designed to deliver nucleic acids to brain
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberEpigenetic pathology and therapy in huntington's disease
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberExtrinsic mechanisms governing injury-induced axon degeneration
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberCortical pathophysiology in mouse models of huntington's disease
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberGenetic correction of mutant huntingtin in vivo
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberHuntington's disease: a novel developmental oligodendrogliopathy
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberRhes-sumo circuitry in huntington's disease pathogenesis
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberStructure of triplet repeat mrna in neurodegenerative disease
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberCrmp2; mitochondria; and huntington's disease
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberControl of excitatory synapse formation by huntingtin
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberN-terminal huntingtin and huntington disease neuropathology
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberAMEDYST: Alterations of motor networks in primary dystonia - FR
IFM - Institut du Fer à Moulin
Equipe "Neurotransmission et signalisation"

ITALY

LAZIO
ROMA

Funded by an IRDiRC memberThe behavioral phenotyping of DAT-knockout rats.
ISS - Istituto Superiore di Sanità
ISTITUTO SUPERIORE DI SANITA'

PORTUGAL

NORTE
PORTO

CACNA1A gene involvement in cognition and synaptic function in calcium channel disease.
Instituto de Biologia Molecular e Celular
Unidade de Investigação Genética e Epidemiológica em Doenças Neurológicas

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberQhts to identify inhibitors of dyt1 inclusion formation
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Multicentric Research projects