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Funded by an IRDiRC member = 
Research projects
ITALY
ABRUZZO
SANTA MARIA IMBARO
EUCILIA: study of the ciliary protein interaction network to establish a hierarchy of temporal and spatial interactions of BBS, OFD1, and NPHP proteins (WP3)
Consorzio Mario Negri Sud
Dipartimento di Biologia Cellulare e Oncologia
ITALY
CAMPANIA
NAPOLI
EUCILIA: thorough analysis of animal models with mutant BBS, OFD1, or NPHP protein (WP1)
TIGEM - Telethon Institute of Genetics and Medicine
Laboratorio di Ricerca
ITALY
LAZIO
ROMA
Clinical, genetic and functional studies on Joubert syndrome and related disorders: a model to understand the complexity of ciliopathies
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
Unità di Malattie Neuromuscolari e Neurodegenerative - Laboratorio di Medicina Molecolare
NETHERLANDS
Gelderland
NIJMEGEN
An integrative approach to understand and antagonize ciliopathy phenotypes
Radboudumc - Radboud universitair medisch centrum
Afdeling Genetica
FRANCE
AUVERGNE-RHONE-ALPES
LYON
DIVERCIL: Understanding cilia and flagella diversity - FR
Faculté de Médecine Lyon Est
Institut NeuroMyoGène (INMG) - CNRS UMR 5310 / INSERM U1217
ITALY
LAZIO
ROMA
Primary Prevention and Surveillance of Congenital Anomalies
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
NETHERLANDS
Gelderland
NIJMEGEN
EURENOMICS: European Consortium for High-Throughput Research in Rare Kidney Diseases - NL
Radboudumc - Radboud universitair medisch centrum
Afdeling Fysiologie
NETHERLANDS
Utrecht
UTRECHT
EURENOMICS: European Consortium for High-Throughput Research in Rare Kidney Diseases - NL
UMC Utrecht - Universitair Medisch Centrum Utrecht
Polikliniek Genetica
FRANCE
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
FRANCE
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
GERMANY
Baden-Württemberg
TÜBINGEN
PREPARE : Preparing for therapies in autosomal recessive ataxias (coordination) - DE
Hertie-Institut für klinische Hirnforschung (HIH)
Abteilung Neurologie mit Schwerpunkt neurodegenerative Erkrankungen
GERMANY
Nordrhein-Westfalen
BONN
PREPARE : Preparing for therapies in autosomal recessive ataxias (coordination) - DE
Projektträger im Deutschen Zentrum für Luft- und Raumfahrt
ERA-Net for research programs on rare diseases - Germany
ITALY
CAMPANIA
NAPOLI
Telethon Undiagnosed Disease Program - Revised Proposal
TIGEM - Telethon Institute of Genetics and Medicine
Genomic Medicine - Telethon Institute of Genetics and Medicine
ITALY
LAZIO
ROMA
SPATAX: European network for hereditary spinocerebellar degenerative disorders
Fondazione EBRI
Istituto di Neurobiologia e Medicina Molecolare
JAPAN
JAPAN
ADDRESS : NOT PROVIDED - JP
Management ofthe clinical diagnostic centre for rare intractable diseases with genome instability and development ofpotential therapeutic medicine
Institution: Information not provided - JP
JAPAN
JAPAN
ADDRESS : NOT PROVIDED - JP
Establishment of the Next-generation Muti-omics Clinical Diagnostic Centre
Institution: Information not provided - JP
JAPAN
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
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
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
SWITZERLAND
Suisse Alémanique
BASEL
Massively parallel sequencing for gene discovery in lethal fetal disorders
Universitätsspital Basel
Abteilung für Medizinische Genetik
UNITED KINGDOM
Cambridgeshire
HINXTON
The Deciphering Developmental Disorders (the DDD study)
Wellcome Trust Sanger Institute
DECIPHER
UNITED KINGDOM
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
UNITED KINGDOM
Lothian
EDINBURGH
Developing non-invasive therapeutic technology to improve motor coordination in cerebellar ataxias
PMARC - The University of Edinburgh
Perception-Movement-Action Research Consortium
UNITED KINGDOM
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
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Patholog-omics - essential tremor in the broader context of neurodegeneration
Institution: Information not provided - US
ITALY
LOMBARDIA
MILANO
NEUROMICS: Integrated European Project on Omics Research of Rare Neuromuscular and Neurodegenerative Diseases - IT
Università degli Studi di Milano - Scienze Farmacologiche e Biomolecolari
Laboratorio di Biologia delle Cellule Staminali
NETHERLANDS
Gelderland
NIJMEGEN
NETHERLANDS
Zuid-Holland
LEIDEN
NEUROMICS: Integrated European -omics research project for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases - NL
LUMC - Leids Universitair Medisch Centrum
Afdeling Humane Genetica
UNITED KINGDOM
Greater Manchester
ADDRESS: NOT PROVIDED - UK
Improving diagnostic and care pathways in progressive supranuclear palsy and corticobasal degeneration
Institution: Information not provided - UK
UNITED STATES
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
Multicentric Research projects
- TIGEM - Telethon Institute of Genetics and Medicine
- Laboratorio di Ricerca
- Radboudumc - Radboud universitair medisch centrum
- Afdeling Genetica
- Faculté de Médecine Lyon Est
- Institut NeuroMyoGène (INMG) - CNRS UMR 5310 / INSERM U1217
- University of British Columbia
- Maternal Infant Child and Youth Research Network
- Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
- Equipe "Bases moléculaires, physiopathologie et traitement des maladies neurodégénératives"
- Muséum National d'Histoire Naturelle
- Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196
- IURC - Institut Universitaire de Recherche Clinique
- Laboratoire de génétique moléculaire
- Institut de Recherche en Santé - Université de Nantes
- L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291
- Hertie-Institut für klinische Hirnforschung (HIH)
- Abteilung Neurologie mit Schwerpunkt neurodegenerative Erkrankungen
- Universitätsklinikum Aachen
- GeNeMove - Netzwerksekretariat
- Universitätsklinikum Magdeburg A.ö.R
- MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
- Fondazione EBRI
- Istituto di Neurobiologia e Medicina Molecolare
- IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
- Servizio Clinico di Consulenza Genetica
- Institut für Medizinische Genetik und angewandte Genomik Tübingen
- Institut für Medizinische Genetik und angewandte Genomik
- Institut für Medizinische Genetik und angewandte Genomik Tübingen
- Institut für Medizinische Genetik und angewandte Genomik
- Zentrum für Neuropathologie und Prionforschung (ZNP)
- Zentrum für Neuropathologie und Prionforschung der LMU München
- Hospital Universitari de Bellvitge
- Unidad de Neuropatología
- Universitätsklinikum Bonn (AöR)
- Kompetenznetz Degenerative Demenzen - Geschäftsstelle
- Camden Mews Day Hospital
- North Thames DeNDRoN, Camden & Islington Mental Health Trust
- Wythenshawe Hospital
- Dementias & Neurodegenerative Diseases Research Network
- Moorgreen Hospital
- Memory & Assessment & Research Centre
- Julian Hospital
- Churchill Hospital
- Fulbrook Centre
- St Martin's Hospital
- Research Institute for the Care of the Elderly (RICE)
- Newcastle General Hospital
- Wolfson Research Centre
- Alzheimer Europe Office
- Max-Planck-Institut für experimentelle Medizin
- Abteilung Molekulare Neurobiologie
ITALY
CAMPANIA
NAPOLI
EUCILIA: Pathophysiology of rare diseases due to ciliary dysfunction: nephronophthisis, oral-facial-digital type 1 and bardet-biedl syndromes
NETHERLANDS
Gelderland
NIJMEGEN
SYSCILIA: A systems biology approach to dissect cilia function and its disruption in human genetic disease
FRANCE
AUVERGNE-RHONE-ALPES
LYON
DIVERCIL: Understanding cilia and flagella diversity
CANADA
Colombie-Britannique
VANCOUVER
Maternal Infant Child and Youth Research Network (MICYRN)
FRANCE
ILE-DE-FRANCE
PARIS
SPATAX: European network for hereditary spinocerebellar degenerative disorders
FRANCE
ILE-DE-FRANCE
PARIS
STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy
FRANCE
OCCITANIE
MONTPELLIER
Euro-SCAR: Nosology and molecular diagnosis of the degenerative recessive ataxias
FRANCE
PAYS DE LA LOIRE
NANTES
FROGH : FRench Regional Origins in Genetics for Health
GERMANY
Baden-Württemberg
TÜBINGEN
PREPARE : Preparing for therapies in autosomal recessive ataxias
GERMANY
Nordrhein-Westfalen
AACHEN
GeNeMove: German Network of Hereditary Movement Disorders
GERMANY
Sachsen-Anhalt
MAGDEBURG
International Clearinghouse for Birth Defects Monitoring Systems
ITALY
LAZIO
ROMA
ITASPA: clinical and genetic analysis of spastic paraplegias
ITALY
LAZIO
ROMA
UnRareNet: a muticenter collaborative research network for the identification and study of rare undiagnosed patients (completed)
GERMANY
Baden-Württemberg
TÜBINGEN
Neuromics: Integrated European -omics research project for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases
GERMANY
Baden-Württemberg
TÜBINGEN
Ataxia Study Group (ASG)
GERMANY
Bayern
MÜNCHEN
BNE: BrainNet Europe II: European brain tissue bank
SPAIN
Cataluña
L'HOSPITALET DE LLOBREGAT
CIEN: Spanish Network for Cooperative Research in Neurological diseases
GERMANY
Nordrhein-Westfalen
BONN
Competence Network Degenerative Dementias
UNITED KINGDOM
Greater London
LONDON
DENDRON - north Thames region: Dementias & Neurodegenerative Diseases Research Network
UNITED KINGDOM
Greater Manchester
MANCHESTER
DENDRON - north west region: Dementias & Neurodegenerative Diseases Research Network
UNITED KINGDOM
Hampshire
SOUTHAMPTON
DENDRON - south coast region: Dementias & Neurodegenerative Diseases Research Network
UNITED KINGDOM
Norfolk
NORWICH
DENDRON - east Anglia region: Dementias & Neurodegenerative Diseases Research Network
UNITED KINGDOM
Oxfordshire
OXFORD
DENDRON - Thames valley region: Dementias & Neurodegenerative Diseases Research Network
UNITED KINGDOM
Somerset
BATH
DENDRON - south west region: Dementias & Neurodegenerative Diseases Research Network
UNITED KINGDOM
Tyne & Wear
NEWCASTLE UPON TYNE
DENDRON - north east region: Dementias & Neurodegenerative Diseases Research Network
LUXEMBOURG
LUXEMBOURG
LUXEMBOURG
Alzheimer Europe: base de données européenne sur les formes rares de démence
GERMANY
Niedersachsen
GÖTTINGEN