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Funded by an IRDiRC member =

Research projects

FRANCE

ILE-DE-FRANCE
PARIS

Cartography and genetic identification of genes involved in child motor neuropathies
CHU Paris - Hôpital Necker-Enfants Malades
Laboratoire de Génétique Moléculaire

BELGIUM

ANTWERPEN
ANTWERPEN

CANADA

Québec
MONTRÉAL

Funded by an IRDiRC memberEmerging 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

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberSPATAX-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"

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberNeuromics: 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"

FRANCE

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

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

GERMANY

Baden-Württemberg
TÜBINGEN

Funded by an IRDiRC memberNEUROMICS: 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

GERMANY

Hessen
FRANKFURT AM MAIN

MITOTARGET: Mitochondriale Membran-Eigenschaften im Prozess der Neurodegeneration und Untersuchung der Effekte von neuen kleinen Molekülen (WP2)
Johann Wolfgang Goethe-Universität Frankfurt
Pharmakologisches Institut für Naturwissenschaftler

GERMANY

Nordrhein-Westfalen
BONN

GERMANY

Nordrhein-Westfalen
KÖLN

Funded by an IRDiRC memberNEUROMICS: Integrated European Project on Omics Research of Rare Neuromuscular and Neurodegenerative Diseases -DE-
Institut für Humangenetik am Universitätsklinikum Köln
Institut für Humangenetik

GERMANY

Nordrhein-Westfalen
KÖLN

Funded by an IRDiRC memberNEUROLIPID: 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

GERMANY

Nordrhein-Westfalen
KÖLN

ITALY

LAZIO
ROMA

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

ITALY

LOMBARDIA
MILANO

Funded by an IRDiRC memberNEUROMICS: 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

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

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

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

UNITED KINGDOM

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

UNITED KINGDOM

South Yorkshire
SHEFFIELD

ITALY

VENETO
CONEGLIANO

Functional study of the Senataxin gene in Drosophila, responsible of motoneuron disease
IRCCS "E. Medea" - Polo Regionale di Conegliano
Associazione ''La Nostra Famiglia''

ITALY

VENETO
CONEGLIANO

Development of motoneuron disease models in Drosophila
IRCCS "E. Medea" - Polo Regionale di Conegliano
Associazione ''La Nostra Famiglia''

ITALY

VENETO
PADOVA

Modelling the role of Atlastin in physiology and moton neuron pathology
Università degli Studi di Padova
Dipartimento di Farmacologia

SPAIN

Andalucía
SEVILLA

Funded by an IRDiRC memberCreation of a database of genetic variants in the gypsy population for the diagnosis and prevention of neuromuscular diseases
IBIS - Instituto de Biomedicina de Sevilla
Grupo de Fisiología molecular de la sinapsis

FRANCE

BOURGOGNE-FRANCHE-COMTE
STRASBOURG

Funded by an IRDiRC memberClinical and psychopathological approach of neuromuscular disease on gender identity
Université de Strasbourg
Subjectivité, lien social et modernité (EA3071)

FRANCE

ILE-DE-FRANCE
EVRY

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberChildbirth and parenthood in women with motor disability related to rare diseases
Fondation hospitalière Sainte-Marie
Service d'Aide à la Parentalité des Personnes en Situation de Handicap

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberHUMAn Neuromuscular Integrative System for drug discovery
Université Paris Descartes - Paris 5
Centre de Neurophysique, Physiologie et Pathologie - CNRS UMR 8119

ITALY

CAMPANIA
NAPOLI

Funded by an IRDiRC memberTelethon Undiagnosed Disease Program - Revised Proposal
Azienda Ospedaliera Universitaria - Seconda Università degli Studi di Napoli
Laboratorio di Genetica Medica

UNITED KINGDOM

Greater London
LONDON

Explaining and changing adverse illness perceptions in muscle disease by a cognitive behavioural therapy technique
Guy's Hospital
Health Psychology Section, Psychology Department, Institute of Psychiatry

UNITED KINGDOM

Lothian
EDINBURGH

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

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

TREAT-NMD: Accelerating Treatments for Neuromuscular Diseases (coordination)
Newcastle upon Tyne Hospitals NHS Trust
Institute of Genetic Medicine

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

NMD-CHIP: societal aspects of the development of targeted DNA-chips for high throughput diagnosis of neuromuscular disorders (WP7)
PEALS Research Centre, Newcastle University, 4th Floor
Policy, Ethics and Life Sciences (PEALS) Research Centre

Multicentric Research projects