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Progetti di ricerca
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
OCCITANIE
MONTPELLIER
Non Invasive Prenatal Diagnosis on Isolated Circulating Fetal Trophoblastic Cells (CFTC) for Triplet Repeat Diseases
CHU de Montpellier - IURC
Laboratoire de Génétique Moléculaire
GERMANIA
Bayern
NEUHERBERG
PolyQure: Causal treatment of polyglutamine diseases by inhibition of TRMT2A : High-throughput and structural biological methods
Helmholtz Zentrum München
Institut für Strukturbiologie - AG Niessing
GERMANIA
Hessen
FRANKFURT AM MAIN
CAG102-knock-in model for spinocerebellar ataxia type 2
Neurologische Universitätsklinik
Klinik für Neurologie
ITALIA
LOMBARDIA
MILANO
Sviluppo di una piattaforma di silenziamento epigenetico allele-specifica per il trattamento della malattia SCA2
Istituto San Raffaele Telethon per la Terapia Genica - TIGET
Istituto San Raffaele Telethon per la Terapia Genica
IRLANDA
County Dublin
DUBLIN
Conformational triggers, Mechanisms and Pathways for Neurodegenerative Disease
Trinity College Dublin
Institute of Neuroscience
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
SPATAX: Clinical and Genetic Analysis of Cerebellar Ataxias and Spastic Paraplegias
Hospital São Sebastião
Serviço de Neurologia
SPAGNA
Comunidad Valenciana
VALENCIA
Clinical studies, genetic bases and prognostic biomarkers in rare neurodegenerative diseases
Centro de Investigación Príncipe Felipe (CIPF)
Unidad de Genética y Genómica de Enfermedades Neuromusculares y Neurodegenerativas
SPAGNA
Cataluña
SABADELL
Rare variant burden contribution to psychiatric disorders in a child-adolescent population with borderline/mild intellectual disability
Corporación Sanitaria Parc Taulí
Laboratorio de Genética de la UDIAT-CD
SPAGNA
Madrid
MADRID
RAREGenomics: Network of Genomic, Functional, Clinical and Therapeutic Resources for the Study of Rare Neurological Diseases
Hospital Universitario Fundación Jiménez Díaz
Servicio de Genética Clínica
STATI UNITI
Arizona
PHOENIX
The etiology of inherited neurological diseases
Phoenix Children's Hospital
Barrow Neurological Institute
CANADA
Alberta
CALGARY
Muscle rehabilitation of cerebral palsy patients recieving botulinum toxin type-A (Botox) treatments
University of Calgary
Faculty of Kinesiology
CANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute
FRANCIA
ILE-DE-FRANCE
PARIS
STaHR : 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
PAYS DE LA LOIRE
NANTES
FROGH : 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
GIAPPONE
JAPAN
AICHI
Management ofthe clinical diagnostic centre for rare intractable diseases with genome instability and development of potential therapeutic medicine
Research Institute of Environmental Medicine, Nagoya University
GIAPPONE
JAPAN
AICHI
Establishment of the Next-generation Muti-omics Clinical Diagnostic Centre for rare intractable diseases with genome instability
Research Institute of Environmental Medicine, Nagoya University
GIAPPONE
JAPAN
TOKYO
Formation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute
ITALIA
LAZIO
ROMA
Malattie rare causate dalla deregolazione funzionale delle proteine Rho GTPasi
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
SPAGNA
Madrid
MADRID
Bioinformatics developments based on network and systems biology to identify new candidate genes for rare genetic diseases
Fundación Jiménez Díaz
Área de Genética y Genómica
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US
FINLANDIA
Finland
OULU
FINCA mouse as a tool to study mechanisms behind severe fibrosis and neurodegeneration
University of Oulu
Biocenter Oulu
Progetti di ricerca multicentrici
- Universitätsklinikum Bonn (AöR)
- Klinik und Poliklinik für Neurologie
- Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
- Equipe "Bases moléculaires, physiopathologie et traitement des maladies neurodégénératives"
- Institut für Medizinische Genetik und angewandte Genomik Tübingen
- Institut für Medizinische Genetik und angewandte Genomik
- Alzheimer Europe Office
- Institut für Medizinische Genetik und angewandte Genomik Tübingen
- Institut für Medizinische Genetik und angewandte Genomik
- Max-Planck-Institut für experimentelle Medizin
- Abteilung Molekulare Neurobiologie
- University of British Columbia
- Maternal Infant Child and Youth Research Network
- Muséum National d'Histoire Naturelle
- Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196
- Institut de Recherche en Santé - Université de Nantes
- L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291
GERMANIA
Nordrhein-Westfalen
BONN
RISCA: prospective study of individuals at risk for spinocerebellar ataxia type 1, type 2, type 3 and type 6 (SCA1, SC2, SCA3, SCA6)
FRANCIA
ILE-DE-FRANCE
PARIS
SPATAX: European network for hereditary spinocerebellar degenerative disorders
GERMANIA
Baden-Württemberg
TÜBINGEN
EUROSCA: European integrated project on spinocerebellar ataxias (FINISHED)
LUSSEMBURGO
LUXEMBOURG
LUXEMBOURG
Alzheimer Europe: European database on rare forms of dementia
GERMANIA
Baden-Württemberg
TÜBINGEN
Neuromics: Integrated European -omics research project for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases
GERMANIA
Niedersachsen
GÖTTINGEN
EUROSPIN: European consortium on synaptic protein networks in Neurological and Psychiatric diseases
CANADA
Colombie-Britannique
VANCOUVER
Maternal Infant Child and Youth Research Network (MICYRN)
FRANCIA
ILE-DE-FRANCE
PARIS
STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy
FRANCIA
PAYS DE LA LOIRE
NANTES