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Research projects
FINLAND
Finland
HELSINKI
Molecular genetics of progressive myoclonus epilepsies
Folkhälsan
Folkhälsan Research Center
FINLAND
Finland
OULU
Novel Diagnostics and Treatment Strategies for Developmental Disorders, Childhood Epilepsies and Movement Disorders
University of Oulu
Biocenter Oulu
FRANCE
ILE-DE-FRANCE
PARIS
Research on monogenic epilepsies: partial familial, myoclonic juvenile with autosomic recessive transmission, febrile convulsions linked to generalised epilepsy
Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
Equipe "Excitabilité, synapse & pathologies associées"
UNITED KINGDOM
Greater London
LONDON
Pathological mechanisms underlying Progressive Myoclonus Epilepsy
The National Hospital For Neurology and Neurosurgery
UCL Institute of Neurology
FINLAND
Finland
HELSINKI
Disease mechanisms in progressive myoclonus epilepsy (EPM1)
Folkhälsan
Folkhälsan Research Center
FINLAND
Finland
HELSINKI
FinnDisMice - Mouse Models for Finnish Disease Heritage
University of Helsinki
FRANCE
AUVERGNE-RHONE-ALPES
PRAGUE
Testing various pharmacotherapeutic approaches in mouse models of infantile, late infantile, and juvenile Batten diseases
Faculty of Medicine and University Hospital Motol
Department of Pediatrics
FRANCE
AUVERGNE-RHONE-ALPES
PRAGUE
CRMP2/CLN6/KLC4: Mechanisms that mediate cargo selection and transport in developing & mature axons in Batten disease
Faculty of Medicine and University Hospital Motol
Department of Pediatrics
FRANCE
AUVERGNE-RHONE-ALPES
PRAGUE
Pig models for Ataxia telangiectasia and Batten disease
Faculty of Medicine and University Hospital Motol
Department of Pediatrics
FRANCE
AUVERGNE-RHONE-ALPES
PRAGUE
Behavioral and pathological characterization of novel mouse models of the fatal neurodegenerative disorders, infantile, late infantile and juvenile Batten diseases
Faculty of Medicine and University Hospital Motol
Department of Pediatrics
FRANCE
AUVERGNE-RHONE-ALPES
PRAGUE
Multifaceted preclinical studies for the treatment of Batten Disease
Faculty of Medicine and University Hospital Motol
Department of Pediatrics
GERMANY
Baden-Württemberg
TÜBINGEN
Brain region-specific epileptogenesis in a conditional mouse model (FOR 2715: Epileptogenesis of genetic epilepsies)
Hertie-Institut für klinische Hirnforschung (HIH)
Abteilung für Neurologie mit Schwerpunkt Epileptologie
ITALY
LOMBARDIA
MILANO
Neuroserpin misfolding and FENIB neurodegeneration: mechanism and inhibition processes
Università degli Studi di Milano - Scienze Biomolecolari e Biotecnologiche
Unità di Espressione Genica, Ciclo Cellulare e Stabilità del Genoma
JAPAN
JAPAN
SAITAMA
Identification of genes for temporal lobe epilepsy and investigation of pathological cascade
RIKEN Center for Brain Science
Laboratory for Neurogenetics
NORWAY
Østlandet
OSLO
Diet, Gut Microbiota and Epigenetics - Identification of factors associated with successful dietary treatment of epilepsy in children
Oslo University Hospital, Ullevaal
NevSom - Nasjonalt kompetansesenter for nevroutviklingsforstyrrelser og hypersomier
PORTUGAL
CENTRO
CANTANHEDE
Protein-Carbohydrate interaction characterization of Laforina - A human protein involved in lafora Disease
BIOCANT Park
Unidade de Biotecnologia Molecular
PORTUGAL
SUL
LISBOA
Noninvasive dynamic neuroimaging in epilepsy
Instituto Superior Técnico
LaSEEB-Evolutionary Systems and Biomedical Engineering Lab
SPAIN
Andalucía
MÁLAGA
Systems medicine approaches for the identification of new therapeutic targets in rare genetic diseases
Universidad de Málaga. Facultad de Ciencias
Departamento de Biología Molecular y Bioquímica
SPAIN
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
SPAIN
Cataluña
ESPLUGUES DE LLOBREGAT
Personalized medicine in the genetic defects of neurotransmission in pediatrics. New approach based on the metabolism of the neuronal synapse (amino acid mediated neurotransmission diseases)
Hospital Sant Joan de Déu Barcelona
Unidad de Enfermedades Metabólicas Congénitas
UNITED KINGDOM
Merseyside
LIVERPOOL
Changing agendas on sleep, treatment and learning in childhood epilepsy
Alder Hey Children's Hospital
Clinical Trials Research Centre
UNITED STATES
South Dakota
SOUTH DAKOTA
Understanding the impact of gut microbiota on the nuerological phenotypes and pathology in mouse models of childhood neurodegenerative diseases
Sanford Research/University of South Dakota
PEARCE LAB - Department of Pediatrics
UNITED STATES
South Dakota
SOUTH DAKOTA
Multifaceted preclinical studies for the treatment of Batten Disease
Sanford Research/University of South Dakota
WEIMER LAB - Department of Pediatrics
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Function of cep290 protein in retinal ciliopathies and normal photoreceptor structure and function.
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Cellular mechanism of adult onset neuronal ceroid lipofuscinosis (ancl) caused by mutations in cysteine string protein-alpha (cspalpha).
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Disease causing mutations in cysteine string protein-alpha disrupt snare-dependent lysosomal exocytosis
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Proj 4: chemical chaperone therapy of batten disease
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Mitochondrial encephalomyopathies and mental retardation
Institution: Information not provided - US
ITALY
LAZIO
ROMA
Diverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
SPAIN
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
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
JAPAN
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
JAPAN
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
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
SPAIN
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
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US
Multicentric Research projects
- Hertie-Institut für klinische Hirnforschung (HIH)
- Abteilung für Neurologie mit Schwerpunkt Epileptologie
- Hertie-Institut für klinische Hirnforschung (HIH)
- Abteilung für Neurologie mit Schwerpunkt Epileptologie
- Instituto de Biomedicina de Valencia (CSIC)
- Unidad de Genética y Medicina Molecular
- The National Hospital For Neurology and Neurosurgery
- Department of Clinical and Experimental Epilepsy
- Hospital Universitari de Bellvitge
- Unidad de Neuropatología
- 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
- IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
- Servizio Clinico di Consulenza Genetica
GERMANY
Baden-Württemberg
TÜBINGEN
EPICURE: Functional genomics and neurobiology of epilepsy: a basis for new therapeutic strategies
GERMANY
Baden-Württemberg
TÜBINGEN
EuroEPINOMICS: Complex genetics of idiopathic epilepsies (CoGIE)
SPAIN
Comunidad Valenciana
VALENCIA
BioMeder - Genes, proteins and signaling pathways in rare diseases
UNITED KINGDOM
Greater London
LONDON
EpiPGX: Epilepsy Pharmacogenomics: delivering biomarkers for clinical use
SPAIN
Cataluña
L'HOSPITALET DE LLOBREGAT
CIEN: Spanish Network for Cooperative Research in Neurological diseases
CANADA
Colombie-Britannique
VANCOUVER
Maternal Infant Child and Youth Research Network (MICYRN)
FRANCE
ILE-DE-FRANCE
PARIS
STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy
FRANCE
PAYS DE LA LOIRE
NANTES
FROGH : FRench Regional Origins in Genetics for Health
ITALY
LAZIO
ROMA