x

Search for a research project

* (*) mandatory field

117 Result(s)

Sort by

Funded by an IRDiRC member =

Research projects

GERMANY

Schleswig-Holstein
LÜBECK

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

FRANCE

GRAND-EST
ILLKIRCH-GRAFFENSTADEN

Funded by an IRDiRC memberPREPARE : Preparing for therapies in autosomal recessive ataxias - FR
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Médecine translationnelle et neurogénétique

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 Salpętričre-Charles Foix - Hôpital Pitié-Salpętričre
Equipe "Bases moléculaires, physiopathologie et traitement des maladies neurodégénératives"

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberPREPARE : Preparing for therapies in autosomal recessive ataxias - FR
CHU Paris-GH La Pitié Salpętričre-Charles Foix - Hôpital Pitié-Salpętričre
Equipe "Bases moléculaires, physiopathologie et traitement des maladies neurodégénératives"

GERMANY

Baden-Württemberg
TÜBINGEN

Funded by an IRDiRC memberPREPARE : Preparing for therapies in autosomal recessive ataxias (coordination) - DE
Hertie-Institut für klinische Hirnforschung (HIH)
Abteilung Neurologie mit Schwerpunkt neurodegenerative Erkrankungen

GERMANY

Bayern
MÜNCHEN

New insight in the pathomechanism and therapy of mitochondrial DNA depletion syndrome
Friedrich-Baur-Institut
Labor für Molekulare Myologie

GERMANY

Nordrhein-Westfalen
BONN

Funded by an IRDiRC memberPREPARE : Preparing for therapies in autosomal recessive ataxias (coordination) - DE
Projektträger im Deutschen Zentrum für Luft- und Raumfahrt
ERA-Net for research programs on rare diseases - Germany

ITALY

LAZIO
ROMA

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

ITALY

VENETO
PADOVA

Funded by an IRDiRC memberDeoxynucleotide pool imbalance, mitochondrial DNA maintenance and disease (terminated)
Universitŕ degli Studi di Padova- Polo A.Vallisneri
Laboratorio di Biologia Cellulare

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 Investigaçăo 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 Investigaçăo Genética e Epidemiológica em Doenças Neurológicas

PORTUGAL

NORTE
SANTA MARIA DA FEIRA

UNITED KINGDOM

Berkshire
READING

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

Greater London
LONDON

Coenzyme Q10 a potential therapeutic target for ataxia: Evaluation of therapeutic strategies
Great Ormond Street Hospital for Children, NHS Foundation Trust
Department of Chemical Pathology

UNITED KINGDOM

Greater London
LONDON

Coenzyme Q10 a potential therapeutic target for ataxia: Evaluation of therapeutic strategies
National Hospital for Neurology and Neurosurgery
Department of Molecular Neuroscience

UNITED KINGDOM

Greater London
LONDON

Coenzyme Q10 a potential therapeutic target for ataxia: Evaluation of therapeutic strategies
UCL Institute of Child Health, University College London
Metabolic Unit

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

UNITED KINGDOM

Oxfordshire
OXFORD

Development of high throughput genetic testing for cerebellar ataxias
Henry Wellcome Building for Molecular Physiology
BRC Genetics and Pathology Theme

UNITED KINGDOM

Oxfordshire
OXFORD

Development of high throughput genetic testing for cerebellar ataxias
Le Gros Clark Building - University of Oxford
MRC Functional Genetics Unit

UNITED KINGDOM

Oxfordshire
OXFORD

Development of high throughput genetic testing for cerebellar ataxias
The Churchill Hospital
Molecular Genetics Laboratory

UNITED KINGDOM

Oxfordshire
OXFORD

Development of high throughput genetic testing for cerebellar ataxias
The Churchill Hospital
Department of Clinical Genetics

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

New insight in the pathomechanism and therapy of mitochondrial DNA depletion syndrome
Newcastle upon Tyne Hospitals NHS Trust
Institute of Genetic Medicine

BELGIUM

ANTWERPEN
ANTWERPEN

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 Salpętričre-Charles Foix - Hôpital Pitié-Salpętričre
Equipe "Bases moléculaires, physiopathologie et traitement des maladies neurodégénératives"

GERMANY

Baden-Württemberg
HEIDELBERG

Funded by an IRDiRC memberEURENOMICS: European Consortium for High-Throughput Research in Rare Kidney Diseases - DE
Zentrum für Kinder- und Jugendmedizin - Angelika-Lautenschläger-Klinik
Klinik Kinderheilkunde I - Nephrologisches Labor

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
Universitŕ degli Studi di Milano - Scienze Farmacologiche e Biomolecolari
Laboratorio di Biologia delle Cellule Staminali

NETHERLANDS

Gelderland
NIJMEGEN

Funded by an IRDiRC memberEURENOMICS: European Consortium for High-Throughput Research in Rare Kidney Diseases - NL
Radboudumc - Radboud universitair medisch centrum
Afdeling Fysiologie

NETHERLANDS

Utrecht
UTRECHT

Funded by an IRDiRC memberEURENOMICS: European Consortium for High-Throughput Research in Rare Kidney Diseases - NL
UMC Utrecht - Universitair Medisch Centrum Utrecht
Polikliniek Genetica

NETHERLANDS

Zuid-Holland
LEIDEN

SPAIN

Madrid
MADRID

Funded by an IRDiRC memberMuscle atrophy in aging and hereditary neurometabolic pathologies: approach to diagnosis and intervention
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en Enfermedades Raras, Mitocondriales y Neuromusculares

SPAIN

Madrid
MADRID

Funded by an IRDiRC memberMuscle atrophy in aging and hereditary neurometabolic pathologies: approach to diagnosis and intervention
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en Fisiopatología de la Biogénesis Mitocondrial

SPAIN

Madrid
VILLAVICIOSA DE ODÓN

Funded by an IRDiRC memberMuscle atrophy in aging and hereditary neurometabolic pathologies: approach to diagnosis and intervention
Universidad Europea de Madrid. Facultad de Ciencias de la Salud
Laboratorio de Fisiología del Ejercicio

UNITED STATES

Arizona
PHOENIX

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

ITALY

CAMPANIA
NAPOLI

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

ITALY

LAZIO
ROMA

Nuclearly encoded mitochondrial protein synthesis factors can cure the respiratory defects due to pathogenetic human equivalent base substitutions in yeast mt tRNA genes
Sapienza Universitŕ di Roma - Dip. di Biologia e Biotecnologie Charles Darwin
Dipartimento di Biologia Cellulare e dello Sviluppo

UNITED KINGDOM

Lothian
EDINBURGH

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

UNITED KINGDOM

Oxfordshire
OXFORD

Clinical and Genetic Analysis of Ataxias and Related Disorders of Cerebellar Function
The Churchill Hospital
Department of Clinical Genetics

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

SPAIN

Cataluńa
BARCELONA

Funded by an IRDiRC memberGenetic-molecular approach of mitochondrial diseases of the OXPHOS system: identification of phenotype conditioning factors
Vall d'Hebron Institut de Recerca VHIR
Unidad de Patología Neuromuscular y Mitocondrial

SPAIN

Madrid
MADRID

Using induced pluripotent stem cells (iPS) for the study and treatment of mitochondrial diseases
Instituto de Investigaciones Biomédicas "Alberto Sols" (CSIC-UAM)
Departamento de Modelos Experimentales de Enfermedades Humanas (Laboratorio de Rafael Garesse Alarcón)

SPAIN

Madrid
MADRID

Funded by an IRDiRC memberMitochondrial diseases: new study strategies, progress in diagnosis and approach to therapy
Instituto de Investigaciones Biomédicas "Alberto Sols" (CSIC-UAM)
Departamento de Modelos Experimentales de Enfermedades Humanas (Laboratorio de Rafael Garesse Alarcón)

SPAIN

Madrid
MADRID

Funded by an IRDiRC memberSearching and characterization of biomarkers of mitochondrial diseases associated with enzymatic deficits of the OXPHOS system
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en Enfermedades Raras, Mitocondriales y Neuromusculares

AUSTRIA

SALZBURG
SALZBURG

Funded by an IRDiRC memberGENOMIT - Mitochondrial Disorders: from a genome-wide Registry to medical genomics, toward molecular mechanisms and new therapies - AT
Salzburger Landeskliniken (SALK) / Paracelsus Med. Privatuniversität (PMU)
Universitätsklinik für Kinder- und Jugendheilkunde

FINLAND

Finland
HELSINKI

Funded by an IRDiRC memberMitochondria, metabolism and disease
Biocenter 1, University of Helsinki
Institute of Biotechnology

FINLAND

Finland
HELSINKI

Molecular basis of mitochondrial disorders
University of Helsinki
Molecular Neurology

FINLAND

Finland
HELSINKI

Funded by an IRDiRC memberMechanisms and consequences of mitochondrial translation defects
University of Helsinki
Molecular Neurology

FINLAND

Finland
TAMPERE

Funded by an IRDiRC memberMitochondria, metabolism and disease
University of Tampere
Institute of Biomedical Technology

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberGENOMIT : Mitochondrial Disorders: from a genome-wide Registry to medical genomics, toward molecular mechanisms and new therapies - FR
CHU Paris - Hôpital Robert Debré
Equipe "Physiopathologie et thérapie des maladies mitochondriales"

FRANCE

ILE-DE-FRANCE
PARIS

Research on the differential effect of Pioglitazone in mitochondrial diseases
CHU Paris - Hôpital Robert Debré
INSERM U1141- Physiopathologie et thérapie des maladies mitochondriale

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberGENOMIT : Mitochondrial Disorders: from a genome-wide Registry to medical genomics, toward molecular mechanisms and new therapies - FR
IMAGINE - Institut des Maladies Génétiques
Equipe "Génétique des maladies mitochondriales"

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberIdentification of nuclear genes of mitochondrial diseases with neurological involvement
Laboratoire de Génétique des maladies mitochondriales
UMR_S1163 : Génétique des maladies mitochondriales

FRANCE

NOUVELLE AQUITAINE
BORDEAUX

FRANCE

PROVENCE-ALPES-COTE D'AZUR
NICE

Funded by an IRDiRC memberIdentification of new genes and possible de novo mutations in early-onset mitochondrial disorders
Faculté de médecine de Nice Sophia-Antipolis
Institut de Recherche sur le Cancer et le Vieillissement

GERMANY

Niedersachsen
GÖTTINGEN

Clinical and genetic presentation of juvenile mitochondriopathies
Universitätsmedizin Göttingen
Klinik für Kinder- und Jugendmedizin

HUNGARY

Közép-Magyarország
BUDAPEST

Investigation of mitochondrial dysfunction with genomic and biochemical analysis
Institute of Genomic Medicine and Rare Disorders, Semmelweis University
Genetics Laboratory

ITALY

LOMBARDIA
MILANO

Funded by an IRDiRC memberIdentification and characterization of nuclear genes responsible for human mitochondrial disorders
Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
U.O. di Neurogenetica Molecolare

ITALY

TOSCANA
PISA

Funded by an IRDiRC memberDeveloping tools for trial readiness in primary mitochondrial myopathies of the adulthood
Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
U.O. di Neurologia - Neurofisiopatologia

ITALY

VENETO
PADOVA

Funded by an IRDiRC memberMitCare-2
Venetian Institute of Molecular Medicine
Dulbecco Telethon Institute

SPAIN

Madrid
MADRID

Funded by an IRDiRC memberGenetic and pharmacogenomic diagnosis of mitochondrial diseases by massive sequencing and functional complementation
Hospital Universitario 12 de Octubre
Unidad Pediátrica de Enfermedades Raras, Enfermedades Mitocondriales y Enfermedades Metabólicas Hereditarias

SPAIN

Madrid
MADRID

Funded by an IRDiRC memberTraining as modulator inducer of myokines and neurotrophins in mitochondrial diseases: a therapeutic strategy
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en Enfermedades Raras, Mitocondriales y Neuromusculares

CANADA

Ontario
OTTAWA

Funded by an IRDiRC memberEmerging 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

Funded by an IRDiRC memberEmerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
University of Ottawa
Department of Epidemiology and Community Medicine

FRANCE

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

ITALY

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

SWEDEN

Stockholms läns landsting
STOCKHOLM

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

Multicentric Research projects