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Projets de recherche
ALLEMAGNE
Baden-Württemberg
TÜBINGEN
SCA-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
ALLEMAGNE
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
ESPAGNE
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
IRLANDE
County Dublin
DUBLIN
Conformational triggers, Mechanisms and Pathways for Neurodegenerative Disease
Trinity College Dublin
Institute of Neuroscience
ITALIE
LAZIO
ROMA
ITASPA: clinical and genetic analysis of spastic paraplegias
Fondazione EBRI
Istituto di Neurobiologia e Medicina Molecolare
JAPON
JAPAN
OSAKA
Development of molecular therapy for non-coding repeat diseases targeting unconventional repeat associated non- ATG (RAN) translation
Osaka University Graduate School of Medicine
Department of Neurotherapeutics
JAPON
JAPAN
TOKYO
Developing 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
PORTUGAL
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
PORTUGAL
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
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
PORTUGAL
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
PORTUGAL
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
PORTUGAL
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
PORTUGAL
NORTE
SANTA MARIA DA FEIRA
SPATAX: Clinical and Genetic Analysis of Cerebellar Ataxias and Spastic Paraplegias
Hospital São Sebastião
Serviço de Neurologia
ROYAUME-UNI
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
ROYAUME-UNI
Lothian
EDINBURGH
Developing non-invasive therapeutic technology to improve motor coordination in cerebellar ataxias
PMARC - The University of Edinburgh
Perception-Movement-Action Research Consortium
ROYAUME-UNI
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
ETATS-UNIS
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
ESPAGNE
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
CANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute
ESPAGNE
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
ETATS-UNIS
Washington
ADDRESS: NOT PROVIDED - US
A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US
FRANCE
ILE-DE-FRANCE
PARIS
STaHR : Stimulation de la Recombinaison Homologue pour la Thérapie Génique - FR
Muséum National d'Histoire Naturelle
Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196
FRANCE
PAYS DE LA LOIRE
NANTES
FROGH : Etude Génétique de la Population Française - FR
Institut de Recherche en Santé - Université de Nantes
L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291
ITALIE
LAZIO
ROMA
Diverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
JAPON
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
JAPON
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
JAPON
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
ESPAGNE
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
Projets de recherche multicentriques
- Institut für Medizinische Genetik und angewandte Genomik Tübingen
- Institut für Medizinische Genetik und angewandte Genomik
- 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
- 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
- Wythenshawe Hospital
- Dementias & Neurodegenerative Diseases Research Network
- St Martin's Hospital
- Research Institute for the Care of the Elderly (RICE)
- Alzheimer Europe Office
- Max-Planck-Institut für experimentelle Medizin
- Abteilung Molekulare Neurobiologie
ALLEMAGNE
Baden-Württemberg
TÜBINGEN
EUROSCA: European integrated project on spinocerebellar ataxias (FINISHED)
ALLEMAGNE
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)
FRANCE
ILE-DE-FRANCE
PARIS
SPATAX: réseau européen des maladies héréditaires dégénératives spinocérébelleuses
ALLEMAGNE
Baden-Württemberg
TÜBINGEN
Neuromics: Integrated European -omics research project for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases
CANADA
Colombie-Britannique
VANCOUVER
Maternal Infant Child and Youth Research Network (MICYRN)
FRANCE
ILE-DE-FRANCE
PARIS
STaHR : Stimulation de la Recombinaison Homologue pour la Thérapie Génique
FRANCE
PAYS DE LA LOIRE
NANTES
FROGH : Etude Génétique de la Population Française
ROYAUME-UNI
Greater Manchester
MANCHESTER
DENDRON - north west region: Dementias & Neurodegenerative Diseases Research Network
ROYAUME-UNI
Somerset
BATH
DENDRON - south west region: Dementias & Neurodegenerative Diseases Research Network
LUXEMBOURG
LUXEMBOURG
LUXEMBOURG
Alzheimer Europe: European database on rare forms of dementia
ALLEMAGNE
Niedersachsen
GÖTTINGEN