Cerca un progetto di ricerca
Altra/e opzione/i di ricerca
50 Risultato/i
Progetti di ricerca terminati = 
Finanziato da un ente associato a IRDiRC = 
Membro di una ERN = 
Progetti di ricerca
FINLANDIA
Finland
HELSINKI
Molecular genetics of progressive myoclonus epilepsies
Folkhälsan
Folkhälsan Research Center
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
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"
ITALIA
SICILIA
PALERMO
Ruolo dei lipidi nelle patologie NCL associate a CLN8: interazioni strutturali e funzionali del CLN8 con la proteina vescicolare di membrana-associata alla proteina A (VAPA) e correlazioni genotipo-fenotipo
Consiglio Nazionale delle Ricerche
Laboratorio di Neuroscienze
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Heriditary neurodegenerative lysosomal storage disorders
Institution: Information not provided - US
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Heriditary neurodegenerative storage disorders
Institution: Information not provided - US
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Neurodegenerative lysosomal storage disorders
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
PORTOGALLO
NORTE
PORTO
Splicing therapeutics for patients affected by lisosomal storage disorders.
Instituto Nacional de Saúde Dr. Ricardo Jorge - Porto
Unidade de Investigação & Desenvolvimento; Departamento de Genética
PORTOGALLO
NORTE
PORTO
The crosstalk between lipid antigen presentation and the pathogenic mechanisms of Lysosomal Storage Diseases
Instituto de Biologia Molecular e Celular
Unidade de Biologia do Lisossoma e do Peroxissoma
SPAGNA
Cataluña
BARCELONA
Advanced genomics and lipidomics for identifying novel causes of inherited movement disorders
Instituto de Química Avanzada de Cataluña
Unidad de Investigación en Moléculas Bioactivas
SPAGNA
País Vasco
SAN SEBASTIÁN
Advanced genomics and lipidomics for identifying novel causes of inherited movement disorders
Instituto de Investigación Sanitaria Biodonostia
Área de Neurociencias
CANADA
Ontario
OTTAWA
Emerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
Children's Hospital of Eastern Ontario
Newborn Screening Ontario
CANADA
Ontario
OTTAWA, ONTARIO
Emerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
University of Ottawa
Department of Epidemiology and Community Medicine
FINLANDIA
Finland
OULU
Novel Diagnostics and Treatment Strategies for Developmental Disorders, Childhood Epilepsies and Movement Disorders
University of Oulu
Biocenter Oulu
FRANCIA
ILE-DE-FRANCE
PARIS
Neuroglobin gene overexpression: a promising tool for treating a large spectrum of neurological disorders thanks to its ability to safely and sustainably preserve mitochondrial integrity
Institut National de la Santé et de la Recherche Médicale
ITALIA
LAZIO
ROMA
Programma Italiano per lo screening neonatale esteso
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
ITALIA
LAZIO
ROMA
Malattie rare causate dalla deregolazione funzionale delle proteine Rho GTPasi
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
SPAGNA
Cataluña
BARCELONA
Igenco: In-Depth genomics and cross-omics analysis for undiagnosed rare diseases on a user-friendly collaborative platform
ISGlobal - Instituto de Salud Global de Barcelona
Programa de investigación en Enfermedades no transmisibles y medio ambiente
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
Washington
ADDRESS: NOT PROVIDED - US
Basic and clinical studies in immune function and metabolism
Institution: Information not provided - US
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
Metabolic engineering in humans: altered gut microbes as a therapeutic platform
Institution: Information not provided - US
SVEZIA
Region Stockholm
STOCKHOLM
Inborn errors of endocrinology and metabolism
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery (MMK)
SVIZZERA
Suisse Romande
LAUSANNE
Cardiac Manifestations in Adult Patients With Inherited Metabolic Disease: a Case Series
Centre Hospitalier Universitaire Vaudois CHUV - Hôpital Beaumont
CMM - Centre des Maladies Moléculaires
CANADA
Colombie-Britannique
VICTORIA
Silent Genomes: Reducing health care disparities and improving diagnostic success for children with genetic diseases from Indigenous populations
University of Victoria
Community Genetics Research Program/Island Medical Program
CANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute
NORVEGIA
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
NORVEGIA
Østlandet
SANDVIKA
Theraputic drug monitoring of patients across the ages at a referral center
SSE - Spesialistsykehuset for epilepsi, Oslo University Hospital
NK-SE - Nasjonalt kompetansesenter for sjeldne epilepsirelaterte diagnoser
PORTOGALLO
SUL
LISBOA
Noninvasive dynamic neuroimaging in epilepsy
Instituto Superior Técnico
LaSEEB-Evolutionary Systems and Biomedical Engineering Lab
SPAGNA
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Centro de Regulación Genómica
Archivo europeo de genomas y fenomas del CRG
SPAGNA
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Clínic de Barcelona
Servicio de Inmunologia
SPAGNA
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari Vall d'Hebron
Laboratorio de Genética
SPAGNA
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital de la Santa Creu i Sant Pau
Servicio de Genética
SPAGNA
Cataluña
L'HOSPITALET DE LLOBREGAT
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari de Bellvitge
Unidad de Genética Molecular
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
Identification of new genes causing rare diseases in pediatric patients, searching of genetic pharmacological targets, and drugs discovery, the steps for a personalized medicine
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en enfermedades raras, mitocondriales y neuromusculares
STATI UNITI
Washington
ADDRESS: NOT PROVIDED - US
A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US
Progetti di ricerca multicentrici
- UKE - Universitätsklinikum Hamburg-Eppendorf
- Arbeitsgruppe Degenerative Gehirnkrankheiten
- UCL University College London
- MRC Laboratory for Molecular Cell Biology
- CHU de Lyon HCL - GH Est-Hôpital Femme Mère Enfant
- Service d'epileptologie clinique, des troubles du sommeil et de neurologie fonctionnelle de l'enfant
- Azienda Ospedaliera Universitaria "Federico II"
- Laboratorio Dipartimento di Pediatria
- MetabERN coordinating Center
- Istituto San Raffaele Telethon per la Terapia Genica - TIGET
- Istituto San Raffaele Telethon per la Terapia Genica
- Azienda Ospedaliera di Padova
- Clinica Pediatrica
- Alzheimer Europe Office
- Oxford University Begbroke Science Park
- Zyoxel Limited
- University of Antwerp - UA, Campus Drie Eiken
- VIB Department of Molecular Genetics
- Hertie-Institut für klinische Hirnforschung (HIH)
- Abteilung für Neurologie mit Schwerpunkt Epileptologie
- Max-Planck-Institut für experimentelle Medizin
- Abteilung Molekulare Neurobiologie
- The National Hospital For Neurology and Neurosurgery
- Department of Clinical and Experimental Epilepsy
GERMANIA
Hamburg
HAMBURG
DEM-CHILD: A Treatment-Oriented Research Project of NCL Disorders as a Major Cause of Dementia in Childhood
REGNO UNITO; GRAN BRETAGNA
Greater London
LONDON
RNGC: Rare Neuronal ceroid lipofuscinosis Gene Consortium
FRANCIA
AUVERGNE-RHONE-ALPES
BRON
NEUROPED: European network of reference for rare paediatric neurological diseases
ITALIA
CAMPANIA
NAPOLI
EUCLYD: A European consortium for Lysosomal disorders (TERMINATED)
ITALIA
FRIULI VENEZIA GIULIA
UDINE
InNerMeD-I-Network: Inherited NeuRoMetabolic Diseases Information Network
ITALIA
LOMBARDIA
MILANO
PERSIST: Persisting transgenesis (TERMINATED)
ITALIA
VENETO
PADOVA
Brains for brain: gruppo di ricerca della task force europea sulle malattie cerebrali e neurodegenerative da accumulo lisosomiale
LUSSEMBURGO
LUXEMBOURG
LUXEMBOURG
Alzheimer Europe: European database on rare forms of dementia
REGNO UNITO; GRAN BRETAGNA
Oxfordshire
BEGBROKE
TissueGEN: THE PRODUCTION OF A 3D HUMAN TISSUE DISEASE PLATFORM TO ENABLE REGENERATIVE MEDICINE THERAPY DEVELOPMENT
BELGIO
ANTWERPEN
ANTWERPEN
EuroEPINOMICS: Genetics of rare epilepsy syndromes - RES
GERMANIA
Baden-Württemberg
TÜBINGEN
EPICURE: Functional genomics and neurobiology of epilepsy: a basis for new therapeutic strategies
GERMANIA
Niedersachsen
GÖTTINGEN
EUROSPIN: European consortium on synaptic protein networks in Neurological and Psychiatric diseases
REGNO UNITO; GRAN BRETAGNA
Greater London
LONDON