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Finanziato da un ente associato a IRDiRC =

Progetti di ricerca

AUSTRIA

STEIERMARK
GRAZ

Connectivity in cerebral microangiopathy
Medizinische Universität Graz
Universitätsklinik für Neurologie

GIAPPONE

JAPAN
GIFU

Finanziato da un ente associato a IRDiRCClinical and basic research, evidence-based medicine for idiopathic basal ganglia calcification
Gifu Pharmaceutical University
Medical Therapeutics and Molecular Therapeutics

GIAPPONE

JAPAN
NAGASAKI

ITALIA

TRENTINO ALTO ADIGE
TRENTO

SPAGNA

Madrid
MADRID

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCStructural biology of amyloid and amyloid-like proteins
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCTargeting vesicular transport pathways in prion disease
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCThe cell biology of neurodegeneration caused by the prion protein
Institution: Information not provided - US

SVEZIA

Region Stockholm
HUDDINGE

Oxysterols in health and disease
Karolinska Institutet - Huddinge
Division of Clinical Chemistry

SVEZIA

Region Stockholm
HUDDINGE

Risk factors, physiological brain alterations and treatment outcomes of CADASIL patients
Karolinska Institutet - Huddinge
Department of Neurobiology, Care Sciences and Society

SVEZIA

Region Stockholm
STOCKHOLM

The role of Notch signalling in vascular smooth muscle cell development and pathology of CADASIL
Karolinska Institutet - Solna
Department of Cell and Molecular Biology

AUSTRIA

NIEDERÖSTERREICH
KLOSTERNEUBURG

The Role of Microglia in Neuronal Ceroid Lipofuscinosis
IST Austria
Institute of Science and Technology Austria

BELGIO

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

Finanziato da un ente associato a IRDiRCTherapeutic role of ganglioside GM1 in Huntington's disease
University of Alberta
Department of Pharmacology

CANADA

Colombie-Britannique
VANCOUVER

CANADA

Colombie-Britannique
VANCOUVER

Finanziato da un ente associato a IRDiRCAltered balance of synaptic/extrasynaptic NMDA receptor signaling in Huntington disease
University of British Columbia
Centre for Huntington Disease- UBC Hospital

CANADA

Ontario
HAMILTON

Finanziato da un ente associato a IRDiRCElucidating the Protective Mechanism of Phospho-N17 Huntingtin in Huntington's disease
McMaster University
Biochemistry and Biomedical Sciences

CANADA

Ontario
TORONTO

FRANCIA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCIA

AUVERGNE-RHONE-ALPES
LYON

characterisation of CLN7, a new lysosomal protein involved in neuronal ceroid lipofuscinosis
Institut de Biologie et Chimie des Protéines
Bases Moléculaires et Structurales des Systèmes Infectieux

FRANCIA

BOURGOGNE-FRANCHE-COMTE
DIJON

Estimating the role of L-carnitine dependent enzymes in the regulation of very long chain fatty acids metabolism in adrenoleukodystrophy
Université de Bourgogne
Biochimie du Peroxysome, Inflammation et Métabolisme Lipidique

FRANCIA

GRAND-EST
STRASBOURG

Finanziato da un ente associato a IRDiRCEpiHD: 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

FRANCIA

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

FRANCIA

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

FRANCIA

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Gene therapy for metachromatic leukodystrophy
CHU Paris-Sud - Hôpital de Bicêtre
Service de Neuropédiatrie

FRANCIA

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Towards a rational therapy for X-linked adrenoleukodystrophy
CHU Paris-Sud - Hôpital de Bicêtre
Service de Neuropédiatrie

FRANCIA

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Role of mitochondries and oxidative stress in Adrenoleukodystrophy: therapeutical involvements
CHU Paris-Sud - Hôpital de Bicêtre
Service de Neuropédiatrie

FRANCIA

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Vectors production for gene therapy of X-linked adrenoleukodystrophy (X-ALD)
CHU Paris-Sud - Hôpital de Bicêtre
Service de Neuropédiatrie

FRANCIA

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Vectors production for gene therapy of Metachromatic leukodystrophy
CHU Paris-Sud - Hôpital de Bicêtre
Service de Neuropédiatrie

FRANCIA

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

FRANCIA

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Unravel the phenotypic variability of X linked adrenoleukodystrophy
CHU Paris-Sud - Hôpital de Bicêtre
Service de Neuropédiatrie

FRANCIA

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Preclinical longitudinal neuroimaging studies for gene therapy in metachromatic leukodystrophy
CHU Paris-Sud - Hôpital de Bicêtre
Service de Neuropédiatrie

FRANCIA

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Pharmacological therapies for X-linked adrenoleukodystrophy
CHU Paris-Sud - Hôpital de Bicêtre
Service de Neuropédiatrie

FRANCIA

ILE-DE-FRANCE
PARIS

Psycho-cognitive forms of adult metachromatic leucodystrophies: phenotype-genotype relationships
APHP.Sorbonne Université, Hôpital de la Pitié-Salpêtrière
Association de la Recherche en NeuroChimie

FRANCIA

ILE-DE-FRANCE
PARIS

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

FRANCIA

ILE-DE-FRANCE
PARIS

Optimization of the metachromatic leukodystrophy gene therapy clinical protocol with an improved AAV10-ARSA vector: tolerance and efficacy in vivo before AFSSAPS submission
Faculté de Sciences Pharmaceutiques et Biologiques
Génétique et biothérapie des maladies dégénératives et prolifératives du système nerveux - INSERM UMR 745

FRANCIA

ILE-DE-FRANCE
PARIS

Characterization of the molecular and pathophysiological mechanisms involved in ceroid-lipofuscinoses
Faculté de médecine Paris-Descartes, Site Necker
Département "Biologie cellulaire" - Equipe "Contrôle de la croissance cellulaire par les nutriments"

FRANCIA

ILE-DE-FRANCE
PARIS

Finanziato da un ente associato a 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

FRANCIA

NOUVELLE AQUITAINE
BORDEAUX

Finanziato da un ente associato a IRDiRCParkington: 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

FRANCIA

OCCITANIE
MONTPELLIER

FRANCIA

PAYS DE LA LOIRE
ANGERS

Finanziato da un ente associato a IRDiRCBehavioral 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)

FRANCIA

PAYS DE LA LOIRE
NANTES

Finanziato da un ente associato a 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

FRANCIA

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

GERMANIA

Baden-Württemberg
TÜBINGEN

Characterization and behavioural consequences of alpha-Synucleinopathies in transgenic mice
Hertie-Institut für klinische Hirnforschung (HIH)
Abteilung für Neurodegeneration - Funktionelle Neurogenetik

GERMANIA

Bayern
MÜNCHEN

GERMANIA

Bayern
MÜNCHEN

Dominantly Inherited Alzheimer Network (DIAN) - DE
LMU Klinikum der Universität München - Campus Großhadern
Arbeitsgruppe Kognitive Neurologie - Neurologische Klinik und Poliklinik

GERMANIA

Hamburg
HAMBURG

Finanziato da un ente associato a IRDiRCNCL2TREAT: Network for neuronal ceroid lipofuscinoses (coordination)
UKE - Universitätsklinikum Hamburg-Eppendorf
Klinik und Poliklinik für Kinder- und Jugendmedizin

GIAPPONE

JAPAN
KYOTO

GIAPPONE

JAPAN
NIIGATA

Finanziato da un ente associato a IRDiRCSearch for new therapeutic seeds of CARASIL targeting TGF-beta signal
Brain Research Institute, Niigata University
Department of Neurology

GIAPPONE

JAPAN
TOKYO

Finanziato da un ente associato a IRDiRCFormation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute

ITALIA

EMILIA ROMAGNA
BOLOGNA

Enroll-HD - Registro prospettico in una coorte di pazienti HD - IT
Università di Bologna - Istituto di Clinica Neurologica
Laboratorio di Neurogenetica

ITALIA

LAZIO
ROMA

Analisi dell'apoptosi nelle patologie neurodegenerative attaverso mutagenesi di apaf1 (completato)
Università degli Studi di Roma Tor Vergata
Laboratorio di Genetica delle Popolazioni

ITALIA

LOMBARDIA
MILANO

DIAN - network Italiano per la malattia di Alzheimer's autosomica dominante e la degenerazione del lobo frontotemporale
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
Dipartimento Malattie Neurodegenerative

ITALIA

LOMBARDIA
MILANO

Finanziato da un ente associato a IRDiRCMiglioramento dell'efficacia del trasferimento genetico nelle cellule staminali ematopoietiche
Istituto San Raffaele Telethon per la Terapia Genica - TIGET
Istituto San Raffaele Telethon per la Terapia Genica

ITALIA

LOMBARDIA
MILANO

Arylsulfatase A over-expression in human hematopoietic cells for metachromatic leukodystrophy gene therapy: pre-clinical and clinical assessment
Istituto San Raffaele Telethon per la Terapia Genica - TIGET
Istituto San Raffaele Telethon per la Terapia Genica

ITALIA

LOMBARDIA
MILANO

Production of vectors for gene therapy (Wiskott-Aldrich Syndrome and Metachromatic Leukodystrophy)
Istituto San Raffaele Telethon per la Terapia Genica - TIGET
Istituto San Raffaele Telethon per la Terapia Genica

ITALIA

LOMBARDIA
MILANO

ITALIA

LOMBARDIA
MILANO

Finanziato da un ente associato a IRDiRCTargeting dei neuroni con il colesterolo. Come può cambiare il futuro delle persone con la malattia di Huntington
Università degli Studi di Milano - Scienze Biomolecolari e Biotecnologiche
Dipartimento di Bioscienze

ITALIA

PUGLIA
FOGGIA

DIAN - network Italiano per la malattia di Alzheimer's autosomica dominante e la degenerazione del lobo frontotemporale
Azienda Ospedaliero Universitaria di Foggia - Ospedali Riuniti
Dipartimento di Scienze Biomediche

ITALIA

TRENTINO ALTO ADIGE
TRENTO

ITALIA

VENETO
PADOVA

Finanziato da un ente associato a IRDiRCMitochondrial Ca2+ uptake in the pathogenesis of familial Alzheimer's disease
Università degli Studi di Padova- Polo A.Vallisneri
Dipartimento di Scienze Biomediche

PAESI BASSI

Noord-Holland
AMSTERDAM

Towards a rational therapy for X-linked adrenoleukodystrophy
Amsterdam UMC, locatie AMC
Laboratorium Genetische Metabole Ziekten

PAESI BASSI

Noord-Holland
AMSTERDAM

Unravel the phenotypic variability of X linked adrenoleukodystrophy
Amsterdam UMC, locatie AMC
Laboratorium Genetische Metabole Ziekten

PORTOGALLO

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

REGNO UNITO; GRAN BRETAGNA

Cardiff
CARDIFF

REGNO UNITO; GRAN BRETAGNA

Gwent
CARDIFF

SPAGNA

Andalucía
SEVILLA

Braincure: therapy for neurodegeneration with brain iron accumulation
Centro Andaluz de Biología del Desarrollo (CABD)
Grupo de Biología celular y Biotecnología

SPAGNA

Cataluña
L'HOSPITALET DE LLOBREGAT

Role of mitochondries and oxidative stress in Adrenoleukodystrophy: therapeutical involvements
IDIBELL - Instituto de Investigación Biomédica de Bellvitge
Laboratorio de Enfermedades Neurometabólicas

SPAGNA

Cataluña
L'HOSPITALET DE LLOBREGAT

Pharmacological therapies for X-linked adrenoleukodystrophy
IDIBELL - Instituto de Investigación Biomédica de Bellvitge
Laboratorio de Enfermedades Neurometabólicas

SPAGNA

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

SPAGNA

Comunidad Valenciana
VALENCIA

Finanziato da un ente associato a IRDiRCTherapeutic 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

SPAGNA

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

STATI UNITI

Arizona
PHOENIX

Finanziato da un ente associato a IRDiRCThe etiology of inherited neurological diseases
Phoenix Children's Hospital
Barrow Neurological Institute

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCNanocarriers designed to deliver nucleic acids to brain
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCEpigenetic pathology and therapy in huntington's disease
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCExtrinsic mechanisms governing injury-induced axon degeneration
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 IRDiRCA powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCThe role of clusterin in cerebral amyloid angiopathy
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

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCCortical pathophysiology in mouse models of huntington's disease
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 IRDiRCGenetic correction of mutant huntingtin in vivo
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCHuntington's disease: a novel developmental oligodendrogliopathy
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 IRDiRCRhes-sumo circuitry in huntington's disease pathogenesis
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCStructure of triplet repeat mrna in neurodegenerative disease
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 IRDiRCThe role of copper in cerebral amyloid angiopathy
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 IRDiRCCombination treatment with vepoloxamer and tpa for acute stroke
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCCrmp2; mitochondria; and huntington's disease
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCControl of excitatory synapse formation by huntingtin
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

Finanziato da un ente associato a IRDiRCN-terminal huntingtin and huntington disease neuropathology
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 IRDiRCHeriditary neurodegenerative lysosomal storage disorders
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCHeriditary neurodegenerative storage disorders
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCNeurodegenerative lysosomal storage disorders
Institution: Information not provided - US

SVEZIA

Region Skåne
LUND

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

SVEZIA

Region Stockholm
HUDDINGE

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

SVEZIA

Region Stockholm
HUDDINGE

Clinical and experimental research regarding allogeneic hematopoietic stem cell transplantation
Karolinska Institutet - Huddinge
Department of laboratory medicine

SVIZZERA

Suisse Romande
LAUSANNE

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

SVIZZERA

Suisse Romande
LAUSANNE

FINLANDIA

Finland
HELSINKI

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

BOURGOGNE-FRANCHE-COMTE
DIJON

Finanziato da un ente associato a IRDiRCDEMENTIA : Exploiting genetic biomarkers of neurodegenerative diseases for developing early diagnostic tests and possible treatments - FR
Faculté des Sciences de Santé
Institut de Chimie Moléculaire de l'Université de Bourgogne (ICMUB) - CNRS 6302

FRANCIA

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

FRANCIA

ILE-DE-FRANCE
PARIS

DFT-MND: frontotemporal dementia associated with motoneurone disease, integrated clinicogenetics study
Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
Equipe "Bases moléculaires, physiopathologie et traitement des maladies neurodégénératives"

FRANCIA

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

GERMANIA

Nordrhein-Westfalen
BONN

DESCRIBE-FTD - Clinical Registry Study on Frontotemporal Dementia (FTD)
DZNE-Standort Bonn
Deutsches Zentrum für Neurodegenerative Erkrankungen e. V.

IRLANDA

County Dublin
DUBLIN

Finanziato da un ente associato a IRDiRCBRAINMEND - Biological Resource Analysis to Identify New Mechanisms and phenotypes in Neurodegenerative Diseases - IE
Trinity College Dublin
Department of Neurology - Trinity Biomedical Sciences Institute

ITALIA

CAMPANIA
NAPOLI

Finanziato da un ente associato a IRDiRCRuolo del traffico intracellulare nella patogenesi delle malattie da prione
Azienda Ospedaliera Universitaria "Federico II"
Dipartimento di Biologia e Patologia cellulare

ITALIA

LAZIO
ROMA

Finanziato da un ente associato a IRDiRCSurveillance of Creuzfeldt-Jakob disease and related disorders
ISS - Istituto Superiore di Sanità
Dipartimento di Biologia Cellulare e Neuroscienze

PORTOGALLO

SUL
FARO

REGNO UNITO; GRAN BRETAGNA

Greater Manchester
ADDRESS: NOT PROVIDED - UK

REGNO UNITO; GRAN BRETAGNA

Greater Manchester
ADDRESS: NOT PROVIDED - UK

SPAGNA

Castilla - León
SALAMANCA

Dissecting a neuron-to-liver crosstalk to modulate lipid metabolism in Batten disease
Instituto de Biología Funcional y Genómica (USAL-CSIC)
Bioenergética y estrés oxidativo del sistema nervioso

SPAGNA

Madrid
MADRID

Finanziato da un ente associato a IRDiRCNext generation sequencing for diagnosis of hemolytic anemia
Hospital Clínico San Carlos
Laboratorio de Hemoglobinopatías y Talasemias

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

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCInvestigating disease mechanisms in c9orf72-linked als/ftd
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 IRDiRCEpigenetic editing of mutant c9orf72
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 IRDiRCNucleocytoplasmic transport and nuclear pore disruption in als/ftd
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCRole of c9orf72 in neurodegeneration
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCPrefrontal ampa receptors in ftd pathogenesis
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

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 IRDiRCOligodendroglial dysfunction in c9orf72 als and ftd
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 IRDiRCFg-nucleoporins and nuclear transport disruption in c9orf72-als/ftd
Institution: Information 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

FRANCIA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

GERMANIA

Nordrhein-Westfalen
BONN

Finanziato da un ente associato a IRDiRCNCL2TREAT: Pathogenetic mechanisms in CLN6
Medizinische Fakultät der Universität Bonn
Institut für Biochemie und Molekularbiologie

IRLANDA

County Dublin
DUBLIN

PORTOGALLO

NORTE
PORTO

SPATAX: Clinical and Genetic Analysis of Cerebellar Ataxias and Spastic Paraplegias
Instituto de Biologia Molecular e Celular
Centro de Genética Preditiva e Preventiva

PORTOGALLO

NORTE
PORTO

Clinical implications of genetic factors causing neurodegenerative diseases characterized by movement or cognitive dysfunction.
Instituto de Biologia Molecular e Celular
Unidade de Investigação Genética e Epidemiológica em Doenças Neurológicas

PORTOGALLO

NORTE
PORTO

Mapping and identification of new disease genes in autosomal dominant spinocerebellar ataxias
Instituto de Biologia Molecular e Celular
Unidade de Investigação Genética e Epidemiológica em Doenças Neurológicas

PORTOGALLO

NORTE
PORTO

SPATAX: Clinical and Genetic Analysis of Cerebellar Ataxias and Spastic Paraplegias
Instituto de Biologia Molecular e Celular
Unidade de Investigação Genética e Epidemiológica em Doenças Neurológicas

PORTOGALLO

NORTE
SANTA MARIA DA FEIRA

REGNO UNITO; GRAN BRETAGNA

Greater London
LONDON

Endogenous Cerebellar Human Stem Cells and their Potential Neuroregenerative Role in Inherited Ataxias
Barts and The London School of Medicine and Dentistry
Centre for Neuroscience and Trauma

REGNO UNITO; GRAN BRETAGNA

Lothian
EDINBURGH

Developing non-invasive therapeutic technology to improve motor coordination in cerebellar ataxias
PMARC - The University of Edinburgh
Perception-Movement-Action Research Consortium

REGNO UNITO; GRAN BRETAGNA

Lothian
EDINBURGH

Developing non-invasive therapeutic technology to improve motor coordination in cerebellar ataxias
School of Informatics, The University of Edinburgh
Human Communication Research Centre

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCProject 1: aberrant neuronal activity and tau distribution in ftd
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCProject 3: autophagy dysfunction and neuronal activity in ftd
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

CANADA

Québec
QUÉBEC

Development of a treatment for Friedreich ataxia based on the administration of a TALE driving the expression of frataxin.
CHUQ - (CHUL) Centre hospitalier de l'Université Laval
Laboratoire de Génétique Humaine

FRANCIA

GRAND-EST
ILLKIRCH-GRAFFENSTADEN

Study of proliferative and regenerative potential of the photoreceptors in a SCA7 mouse model, a disease by polyglutamine expansion
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Médecine translationnelle et neurogénétique

FRANCIA

ILE-DE-FRANCE
PARIS

BIOSCA:Biomarkers in Autosomal Dominant Cerebellar Ataxia
APHP.Sorbonne Université, Hôpital de la Pitié-Salpêtrière
UF de Neurogénétique Moléculaire et Cellulaire

FRANCIA

ILE-DE-FRANCE
PARIS

Multidisciplinary Observational Study of Patients With Friedreich Ataxia
CHU Paris - Hôpital Robert Debré
Neurologie pédiatrique et maladies métaboliques

FRANCIA

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Synthetic biology and Friedreich's Ataxia
CNRS Campus Joseph Aiguier
Laboratoire de Chimie Bactérienne (LCB) - UMR 7283

FRANCIA

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Finanziato da un ente associato a IRDiRCFRACOL: Synthetic biology to approach Friedreich ataxia - FR
CNRS Campus Joseph Aiguier
Laboratoire de Chimie Bactérienne (LCB) - UMR 7283

GERMANIA

Baden-Württemberg
TÜBINGEN

Finanziato da un ente associato a IRDiRCSCA-CYP: Gene Therapy for Cerebellar Ataxias: restoring cholesterol metabolism by targeting brain cholesterol 24 hydroxylase (CYP46A1) (partner No 3)
Institut für Medizinische Genetik und angewandte Genomik Tübingen
Institut für Medizinische Genetik und angewandte Genomik

GERMANIA

Hessen
FRANKFURT AM MAIN

GERMANIA

Hessen
FRANKFURT AM MAIN

CAG102-knock-in model for spinocerebellar ataxia type 2
Neurologische Universitätsklinik
Klinik für Neurologie

GERMANIA

Nordrhein-Westfalen
BONN

GIAPPONE

JAPAN
NIIGATA

Finanziato da un ente associato a IRDiRCDevelopment of therapeutic strategy for DRPLA based on gene silencing and genome editing.
Brain Research Institute, Niigata University
Department of Neurology

GIAPPONE

JAPAN
TOKYO

Finanziato da un ente associato a IRDiRCDeveloping antisense ol igonucleotide therapy targeting bidirectional transcription underlying an inherited neurodegenerative disease.
Tokyo Medical and Dental University Medical Hospital
Center for Personalized Medicine for Healthy Aging

GIAPPONE

JAPAN
TOKYO

Finanziato da un ente associato a IRDiRCGene therapy against SCA1 based on the molecular pathomechanism
Tokyo Medical and Dental University Medical Research Institute
Department of Neuropathology

ITALIA

LAZIO
ROMA

Determinanti molecolari delle malattie neurodegenerative
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
Unità di Malattie Neuromuscolari e Neurodegenerative - Laboratorio di Medicina Molecolare

ITALIA

LOMBARDIA
MILANO

Finanziato da un ente associato a IRDiRCIl moscerino della frutta, Drosophila melanogaster, come modello per studiare l''atrofia dentato-rubro-pallido-luisiana, una malattia neurodegenerativa
IRCCS Ospedale San Raffaele
Divisione di Genetica e Biologia Cellulare - Dipartimento di Genomica Funzionale

ITALIA

LOMBARDIA
MILANO

Finanziato da un ente associato a IRDiRCSbilanciato rapporto tra eccitazione e inibizione nell'atassia telangectasia e prospettive d'intervento terapeutico
Università degli Studi di Milano-Biotecnologie Mediche e Medicina Traslazionale
Dipartimento di Biotecnologie Mediche e Medicina Traslazionale - Laboratorio Interdisciplinare di Tecnologie Avanzate (LITA)

PORTOGALLO

CENTRO
ADDRESS: NOT PROVIDED - PT

PORTOGALLO

CENTRO
ADDRESS: NOT PROVIDED - PT

PORTOGALLO

CENTRO
BRAGA

PORTOGALLO

CENTRO
COIMBRA

The role of calpain-mediated proteolysis of ataxin-3 in Machado-Joseph disease: a molecular therapy approach with viral vectors.
Centro de Neurociências da Universidade de Coimbra
Departmento de vectores e terapia génica

PORTOGALLO

CENTRO
COIMBRA

Regulation by phosphorylation of ataxin-3, the mutated protein in Machado Joseph Disease
Centro de Neurociências da Universidade de Coimbra
Glutamatergic Synapses: Formation and regulation of synapses

PORTOGALLO

NORTE
PORTO

A peptide aptamer-based approach to neurodegenerative disorders.
Instituto de Biologia Molecular e Celular
Protein Crystallography Group

PORTOGALLO

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

PORTOGALLO

NORTE
PORTO

Search for disease modifiers in spinocerebellar ataxias: human and animal-based approaches.
Instituto de Biologia Molecular e Celular
Unidade de Investigação Genética e Epidemiológica em Doenças Neurológicas

SPAGNA

Cataluña
BADALONA

Finanziato da un ente associato a IRDiRCGenetic-molecular basis of hereditary ataxias: characterization of the underlying pathophysiological mechanisms in spinocerebellar ataxias types 37 (SCA37) and 44 (SCA44)
Fundació Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol
Unidad de investigación en neurogenética

SPAGNA

Comunidad Valenciana
VALENCIA

Validation of circulating microRNAs as prognostic biomarkers and clinical evolution in Friedreich ataxia. Towards precision medicine in Rare Diseases
INCLIVA - Facultad de Medicina de la Universidad de Valencia
Grupo de investigación en fisiopatología celular y orgánica del estrés oxidativo

SPAGNA

Comunidad Valenciana
VALENCIA

Finanziato da un ente associato a IRDiRCNew Therapies in Friedreich Ataxia
INCLIVA - Facultad de Medicina de la Universidad de Valencia
Grupo de investigación en fisiopatología celular y orgánica del estrés oxidativo

STATI UNITI

South Dakota
SOUTH DAKOTA

Finanziato da un ente associato a IRDiRCAberrant mitochondrial redox regulation in Friedreich's Ataxia
Sanford Research/University of South Dakota
VITIELLO LAB- Depatment of Pediatrics

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCNatural history of spinocerebellar ataxia type 7 (sca7)
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 IRDiRCMammalian iron-sulfur cluster biogenesis
Institution: Information not provided - US

SVEZIA

Region Stockholm
STOCKHOLM

The role of an atrophin-brakeless protein complex in gene regulation and neurodegeneration in particularly
Stockholm University
Department of Molecular Biosciences, The Wenner-Gren Institute (MBW)

SVIZZERA

Suisse Alémanique
BERN

Swiss Primary Hypersomnolence and Narcolepsy Cohort Study
University Hospital Inselspital
Universitätsklinik für Neurologie

SVIZZERA

Suisse Alémanique
SCHLIEREN

Hematopoietic Stem Cell Gene Therapy for treatment of Ataxia telangiectasia (A-T)
Institute for Regenerative Medicine
Department Gene and Cell Therapy

ITALIA

LOMBARDIA
MILANO

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCMechanisms of retinal degeneration in inherited diseases
Institution: Information not provided - US

STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Finanziato da un ente associato a IRDiRCZfp423 mechanisms in joubert syndrome and related disorders
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 IRDiRCGenetic architecture and molecular pathogenesis of joubert syndrome
Institution: Information not provided - US

Progetti di ricerca multicentrici