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54 Resultado(s)

Ordenados por

Financiado por un miembro del IRDiRC =

Proyectos de investigación

ALEMANIA

Thüringen
JENA

Pathophysiology of adaptor protein 5 complex related hereditary spastic paraplegia
Institut für Humangenetik am Universitätsklinikum Jena
Institut für Humangenetik

PORTUGAL

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

PORTUGAL

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

REINO UNIDO (EL)

Cambridgeshire
CAMBRIDGE

Financiado por un miembro del IRDiRCActive BRIDGE Studies - Specialist Pathology: Evaluating Exomes in Diagnostics (SPEED)
Wellcome Trust/MRC Building
Cambridge Institute for Medical Research

CANADA

Ontario
OTTAWA

Financiado por un miembro del IRDiRCEmerging 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

Financiado por un miembro del IRDiRCEmerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
University of Ottawa
Department of Epidemiology and Community Medicine

FRANCIA

HAUTS-DE-FRANCE
LILLE

ID2STOP Orphan : InDividualized Drug Selection Technology for Orphan Patients
Faculté des Sciences Pharmaceutiques et Biologiques de Lille
APTEEUS: le patient au coeur de la découverte de son traitement

ITALIA

LIGURIA
GENOVA

New technologies and new strategies for neonatal screening
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Laboratorio per lo Studio degli Errori Congeniti del Metabolismo

REINO UNIDO (EL)

Lothian
EDINBURGH

Genetic disorders of human brain development
Western General Hospital
MRC Human Genetics Unit

SUECIA

Stockholms läns landsting
STOCKHOLM

Inborn errors of endocrinology and metabolism
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery

ALEMANIA

Baden-Württemberg
TÜBINGEN

Financiado por un miembro del IRDiRCNEUROMICS: Integrated European Project on Omics Research of Rare Neuromuscular and Neurodegenerative Diseases -DE-
Institut für Medizinische Genetik und angewandte Genomik Tübingen
Institut für Medizinische Genetik und angewandte Genomik

ALEMANIA

Hessen
FRANKFURT AM MAIN

MITOTARGET: mitochondrial membrane properties in the process of neurodegeneration and assessment of the effects of new small molecules (WP2)
Johann Wolfgang Goethe-Universität Frankfurt
Pharmakologisches Institut für Naturwissenschaftler

ALEMANIA

Nordrhein-Westfalen
BONN

ALEMANIA

Nordrhein-Westfalen
KÖLN

Financiado por un miembro del IRDiRCNEUROMICS: Integrated European Project on Omics Research of Rare Neuromuscular and Neurodegenerative Diseases -DE-
Institut für Humangenetik am Universitätsklinikum Köln
Institut für Humangenetik

ALEMANIA

Nordrhein-Westfalen
KÖLN

Financiado por un miembro del IRDiRCNEUROLIPID: Lipid metabolism in the pathogenesis of hereditary spastic paraplegia: genes, biomarkers, and models for therapy (coordination) - DE
Mathematisch-Naturwissenschaftlichen Fakultät der Universität zu Köln
Zoologisches Institut - Rugarli Lab

ALEMANIA

Nordrhein-Westfalen
KÖLN

BELGICA

ANTWERPEN
ANTWERPEN

CANADA

Québec
MONTRÉAL

Financiado por un miembro del IRDiRCEmerging Team to identify and characterize novel and existing Hereditary Spastic Paraplegia (HSP) disease genes
CHUM Research Centre
Centre d'excellence en neuroscience de l'Université de Montréal

FRANCIA

ILE-DE-FRANCE
PARIS

Financiado por un miembro del IRDiRCSPATAX-QUEST: Identification of new causative genes in spinocerebellar degenerations by combination of whole genome scan, next-generation sequencing and biological validation in vitro and in vivo
CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
Equipe "Bases moléculaires, physiopathologie et traitement des maladies neurodégénératives"

FRANCIA

ILE-DE-FRANCE
PARIS

Financiado por un miembro del IRDiRCNeuromics: Integrated European -omics research project for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases - FR
CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
Equipe "Bases moléculaires, physiopathologie et traitement des maladies neurodégénératives"

FRANCIA

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

MITOTARGET: mitochondrial apoptotic pathways in neurodegenerative diseases and assessment of the effects of new small molecules (WP4)
Parc scientifique et technologiques de Luminy
Institut de Biologie du Développement de Marseille-Luminy

FRANCIA

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

ITALIA

CAMPANIA
NAPOLI

Financiado por un miembro del IRDiRCTelethon Undiagnosed Disease Program - Revised Proposal
Azienda Ospedaliera Universitaria - Seconda Università degli Studi di Napoli
Laboratorio di Genetica Medica

ITALIA

LAZIO
ROMA

Search for new disease genes in the spastic paraplegia erediatria
Fondazione EBRI
Istituto di Neurobiologia e Medicina Molecolare

ITALIA

LOMBARDIA
MILANO

Financiado por un miembro del IRDiRCNEUROMICS: 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

PAISES BAJOS (LOS)

Zuid-Holland
LEIDEN

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

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

REINO UNIDO (EL)

Cambridgeshire
CAMBRIDGE

Modeling spastic paraplegia gene molecular function and pathology in Drosophila
Department of Genetics - University of Cambridge
Department of Genetics

REINO UNIDO (EL)

South Yorkshire
SHEFFIELD

MITOTARGET: mitochondrial dynamics in neurodegenerative diseases and assessment of the effects of new small molecules (WP1)
Sheffield Institute of Translational Neuroscience, University of Sheffield
Department of Neuroscience

Proyectos de investigación multicéntricos