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Funded by an IRDiRC member =

Research projects

FRANCE

ILE-DE-FRANCE
PARIS

BIOSCA:Biomarkers in Autosomal Dominant Cerebellar Ataxia
CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
UF de Neurogénétique Moléculaire et Cellulaire

GERMANY

Baden-Württemberg
TÜBINGEN

Funded by an IRDiRC memberSCA-CYP: Gene Therapy for Cerebellar Ataxias: restoring cholesterol metabolism by targeting brain cholesterol 24 hydroxylase (CYP46A1) (partner No 3)
Institut für Medizinische Genetik und angewandte Genomik Tübingen
Institut für Medizinische Genetik und angewandte Genomik

GERMANY

Bayern
MARTINSRIED

Cellular Toxicity of Polyglutamine Proteins in Neurodegenerative Disease
Max-Planck-Institut für Biochemie
Abteilung zelluläre Biochemie

GERMANY

Nordrhein-Westfalen
BONN

GERMANY

Nordrhein-Westfalen
BONN

Funded by an IRDiRC memberESMI: European Spinocerebellar Ataxia Type 3/Machado-Joseph Disease Initiative (Koordination)
Universitätsklinikum Bonn
Klinik und Poliklinik für Neurologie

NETHERLANDS

Gelderland
NIJMEGEN

Understanding and manipulating neural compensatory mechanisms in patients with SCA3
Radboudumc - Radboud universitair medisch centrum
Afdeling Neurologie

NETHERLANDS

Gelderland
NIJMEGEN

Cerebellar dysfunction and its compensation in presymptomatic carriers of the SCA3 mutation
Radboudumc - Radboud universitair medisch centrum
Afdeling Neurologie

NETHERLANDS

Zuid-Holland
LEIDEN

Funded by an IRDiRC memberAntisense therapy for several major rare diseases
LUMC - Leids Universitair Medisch Centrum
Afdeling Humane Genetica

PORTUGAL

CENTRO
ADDRESS: NOT PROVIDED - PT

PORTUGAL

CENTRO
ADDRESS: NOT PROVIDED - PT

PORTUGAL

CENTRO
BRAGA

PORTUGAL

CENTRO
COIMBRA

The role of calpain-mediated proteolysis of ataxin-3 in Machado-Joseph disease: a molecular therapy approach with viral vectors.
Centro de Neurociências da Universidade de Coimbra
Departmento de vectores e terapia génica

PORTUGAL

CENTRO
COIMBRA

Regulation by phosphorylation of ataxin-3, the mutated protein in Machado Joseph Disease
Centro de Neurociências da Universidade de Coimbra
Glutamatergic Synapses: Formation and regulation of synapses

PORTUGAL

CENTRO
COIMBRA

Funded by an IRDiRC memberSYNSPREAD: Role and mechanism of alpha-synuclein and ataxin-3 spreading in Parkinson and Machado-Joseph diseases
Centro de Neurociências da Universidade de Coimbra
Center for Neuroscience and Cell Biology

PORTUGAL

NORTE
PORTO

A peptide aptamer-based approach to neurodegenerative disorders.
Instituto de Biologia Molecular e Celular
Protein Crystallography Group

PORTUGAL

NORTE
PORTO

Search for disease modifiers in spinocerebellar ataxias: human and animal-based approaches.
Instituto de Biologia Molecular e Celular
Unidade de Investigação Genética e Epidemiológica em Doenças Neurológicas

UNITED KINGDOM

Greater London
LONDON

Funded by an IRDiRC memberJPND European Spinocerebellar Ataxia Type 3/Machado-Joseph Disease Initiative
University College London - UCL Darwin Building
University College London

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

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
Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
Equipe "Bases moléculaires, physiopathologie et traitement des maladies neurodégénératives"

GERMANY

Schleswig-Holstein
LÜBECK

Phenotypic spectrum and molecular characterization of Movement disorders
Universität Lübeck
Institut für Neurogenetik

ITALY

LAZIO
ROMA

SPATAX: European network for hereditary spinocerebellar degenerative disorders
Fondazione EBRI
Istituto di Neurobiologia e Medicina Molecolare

ITALY

PIEMONTE
TORINO

Identification of the gene responsible for a novel form of autosomal dominant spinocerebellar ataxia
A.O. Città della Salute e della Scienza di Torino - Ospedale Molinette
Genetica Medica

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

Mapping and identification of new disease genes in autosomal dominant spinocerebellar ataxias
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

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

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
Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
Equipe "Bases moléculaires, physiopathologie et traitement des maladies neurodégénératives"

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

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

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

UNITED KINGDOM

Greater Manchester
ADDRESS: NOT PROVIDED - UK

UNITED STATES

Arizona
PHOENIX

Funded by an IRDiRC memberThe etiology of inherited neurological diseases
Phoenix Children's Hospital
Barrow Neurological Institute

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberSTaHR : 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

Funded by an IRDiRC memberFROGH : 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

ITALY

CAMPANIA
NAPOLI

Funded by an IRDiRC memberTelethon Undiagnosed Disease Program - Revised Proposal
TIGEM - Telethon Institute of Genetics and Medicine
Genomic Medicine - Telethon Institute of Genetics and Medicine

JAPAN

JAPAN
ADDRESS : NOT PROVIDED - JP

JAPAN

JAPAN
ADDRESS : NOT PROVIDED - JP

GERMANY

Bayern
MÜNCHEN

Funded by an IRDiRC memberRHAPSODY - Research to Assess Policies and Strategies for Dementia in the Young
Klinikum rechts der Isar der Technischen Universität München
Klinik und Poliklinik für Psychiatrie und Psychotherapie

Multicentric Research projects