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Research projects

ANTWERPEN
ANTWERPEN
A preclinical study to treat neuromuscular diseases caused by mutations in the small heat shock protein HSPB8
University of Antwerp - UA
Peripheral Neuropathy Research Group

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

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

Finland
HELSINKI
The role of polyamine metabolism and NAD+-dependent enzymes, sirtuins and poly(ADP-ribose) polymerases, in diseases characterized with mitochondrial dysfunction.
University of Helsinki
Stem Cells and Metabolism Research Program

Finland
HELSINKI
Mechanisms by which alternative oxidase ameliorates locomotor deficit due to cytochrome c oxidase deficiency in Drosophila
University of Helsinki
Stem Cells and Metabolism Research Program

Finland
HELSINKI
Mitochondrial dysfunction remodels vitamin-B metabolism: Roles for neurological disease and therapy
University of Helsinki
Stem Cells and Metabolism Research Program

Finland
HELSINKI
Tissue-specific mitochondrial signaling and adaptations to mistranslation
University of Helsinki
Stem Cells and Metabolism Research Program

Finland
TAMPERE
Molecular Thermobiology of Mitochondria
Tampere University
Faculty of Medicine and Health Technology

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
Prion protein dysfunction in inherited metabolic myopathies
Institution: Information not provided - FR

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
In vivo investigation of skeletal muscle function after chronic administration of CsA in a mouse model of MItochondrial MYopathy: a combined anatomical, metabolic and functional study using MRI and 31P-MRS
Institution: Information not provided - FR

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
Abnormal mitoribosomal biogenesis and protein maturation in human mitochondrial diseases.
Institution: Information not provided - FR

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
CREB Binding Protein (CBP) co-activator: a new player for mitochondrial (dys)function in myogenesis?
Institution: Information not provided - FR

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
Influence of mtDNA background (haplogroups) on mitochondrial pathologies.
Institution: Information not provided - FR

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
Does nuclear transfer alter mitochondrial-nuclear cross-talks in the human preimplantation embryo?
Institution: Information not provided - FR

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
Impact of pre-phonation inspiratory volume on speech quality of neuromuscular patients requiring non invasive ventilation
Institution: Information not provided - FR

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
Impact of the type of interface in neuromuscular patients treated with nocturnal Noninvasive Ventilation: a randomized crossover trial
Institution: Information not provided - FR

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
Mitochondrial myopathies with mtDNA instability: the role of cristae maintenance
Institution: Information not provided - FR

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
Impact of blowpipe training on cough efficiency in neuromuscular patients : a prospective evaluation.
Institution: Information not provided - FR

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

ILE-DE-FRANCE
CRÉTEIL
Muscle stem cell quiescence and heterogeneity
Faculté de Médecine de Créteil
Equipe "Biologie du système neuromusculaire"

ILE-DE-FRANCE
EVRY
NMD-CHIP: design, production and technical validation of candidate genes targeted chips (WP3)
Généthon
Centre de Recherche Généthon

ILE-DE-FRANCE
PARIS
GENOMIT : 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"

ILE-DE-FRANCE
PARIS
Research on the differential effect of Pioglitazone in mitochondrial diseases
CHU Paris - Hôpital Robert Debré
Equipe "Physiopathologie et thérapie des maladies mitochondriales"

ILE-DE-FRANCE
PARIS
GENOMIT : 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"

ILE-DE-FRANCE
PARIS
Identification of nuclear genes of mitochondrial diseases with neurological involvement
Laboratoire de Génétique des maladies mitochondriales
UMR_S1163 : Génétique des maladies mitochondriales

ILE-DE-FRANCE
PARIS
STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy - FR
Muséum National d'Histoire Naturelle
Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196

ILE-DE-FRANCE
PARIS
HUMAn Neuromuscular Integrative System for drug discovery
Université Paris Descartes - Paris 5
Centre de Neurophysique, Physiologie et Pathologie - CNRS UMR 8119

NOUVELLE AQUITAINE
BORDEAUX
Ubinergy: Control of mitochondrial energy metabolism by the ubiquitin/proteasome system
CHU de Bordeaux-GH Pellegrin
Laboratoire Maladies Rares : Génétique et Métabolisme (MRGM)

PAYS DE LA LOIRE
NANTES
FROGH : 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

PROVENCE-ALPES-COTE D'AZUR
NICE
Identification of new genes and possible de novo mutations in early-onset mitochondrial disorders
Faculté de médecine de Nice Sophia-Antipolis
IRCAN - Institut de Recherche sur le Cancer et le Vieillissement (INSERM U 1081 - CNRS UMR7284)

Bayern
MÜNCHEN
GENOMIT- Mitochondrial Disorders: from a pan-European Registry to medical genetics, toward molecular mechanisms and new therapeutic options - DE (partner no 1)
LMU Klinikum der Universität München - Campus Großhadern
Arbeitsgruppe Neurogenetik

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

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

CAMPANIA
NAPOLI
Telethon Undiagnosed Disease Program - Revised Proposal
TIGEM - Telethon Institute of Genetics and Medicine
Genomic Medicine - Telethon Institute of Genetics and Medicine

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

LOMBARDIA
MILANO
Identification and characterization of nuclear genes responsible for human mitochondrial disorders
Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
U.O. di Neurogenetica Molecolare

LOMBARDIA
MILANO
MitMed consortium: from the identification and characterization of nuclear genes responsible for human mitochondrial disorders towards potential therapeutic approaches in experimental models
Fondazione IRCCS Istituto Neurologico "C. Besta" - sede Bicocca
U.O. di Neurogenetica Molecolare

LOMBARDIA
MILANO
NEUROMICS: 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

TOSCANA
PISA
Developing tools for trial readiness in primary mitochondrial myopathies of the adulthood
Azienda Ospedaliero Universitaria Pisana - Ospedale S. Chiara
U.O. di Neurologia - Neurofisiopatologia

VENETO
PADOVA
The role of Raptor/mTORC1 in adult skeletal muscle
Venetian Institute of Molecular Medicine
Dipartimento di Scienze Biomediche

JAPAN
AICHI
Management ofthe clinical diagnostic centre for rare intractable diseases with genome instability and development of potential therapeutic medicine
Research Institute of Environmental Medicine, Nagoya University

JAPAN
AICHI
Establishment of the Next-generation Muti-omics Clinical Diagnostic Centre for rare intractable diseases with genome instability
Research Institute of Environmental Medicine, Nagoya University

JAPAN
CHIBA
The creation of evidence which lead to medical practice with a view to revision of manuals/guideline of mitochondrial disease
Chiba Cancer Center Research Institute

JAPAN
TOKYO
Formation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute

JAPAN
TOKYO
Establishment of Integrated Genome Analysis Center for Hereditary Muscle Disease
National Center of Neurology and Psychiatry
Department of Neuromuscular Research

Andalucía
SEVILLA
Creation 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

Galicia
SANTIAGO DE COMPOSTELA
Testing the effectiveness the of Nanostring nCounter platform detecting defects of gene expression in patients with undiagnosed rare diseases
Complejo Hospitalario Universitario de Santiago
Unidad de Diagnóstico y Tratamiento de Enfermedades Metabólicas

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

Madrid
MADRID
Development of experimental models for the study, diagnosis and therapy of mitochondrial diseases
Universidad Autónoma de Madrid. Facultad de Medicina
Departamento de Bioquímica

Stockholms läns landsting
STOCKHOLM
Inborn errors of endocrinology and metabolism
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery

Suisse Romande
LAUSANNE
Clinical Characteristics of Adult Patients With Inborn Errors of Metabolism in French-speaking Switzerland
Centre Hospitalier Universitaire Vaudois CHUV - Hôpital Beaumont -
CMM - Centre des Maladies Moléculaires

Cambridgeshire
ST NEOTS
Clinical development of erythrocyte encapsulated thymidine phosphorylase- a therapy for mitochondrial neurogastrointestinal encephalomyopathy
The Aplastic Anaemia Trust
The Purine Metabolic Patients' Association

Greater London
LONDON
MICA: Clinical development of erythrocyte encapsulated thymidine phosphorylase - a therapy for mitochondrial neurogastrointestinal encephalomyopathy
St George's University of London
Molecular and Clinical Sciences Reseach Institute

Greater Manchester
ADDRESS: NOT PROVIDED - UK
Understanding the mechanism underpinning segregation of mitochondrial DNA mutation during somatic cell reprogramming
Institution: Information not provided - UK

Tyne & Wear
NEWCASTLE UPON TYNE
MICA: Randomised, double-blinded, placebo-controlled, adaptive design trial of the efficacy of acipimox in patients with Mitochondrial Myopathy (AIMM)
Newcastle University Institute for Ageing (NUIA), Newcastle Biomedicine
Wellcome Trust Centre for Mitochondrial Research (Institute of Neuroscience)

Tyne & Wear
NEWCASTLE UPON TYNE
TREAT-NMD: Accelerating Treatments for Neuromuscular Diseases (coordination)
Newcastle upon Tyne Hospitals NHS Trust
John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine

Washington
ADDRESS: NOT PROVIDED - US
Basic and clinical studies in immune function and metabolism
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Metabolic engineering in humans: altered gut microbes as a therapeutic platform
Institution: Information not provided - US
Multicentric Research projects
- University of British Columbia
- Maternal Infant Child and Youth Research Network
- University of Ottawa
- Faculty of Medicine -
- Institution: Information not provided - FR
- Faculté de médecine de Clermont-Ferrand
- Laboratoire de Génétique, Reproduction et Développement
- Muséum National d'Histoire Naturelle
- Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196
- Université Bordeaux 2 - Victor Ségalen
- Physiopathologie mitochondriale
- Institut Fédératif de Biologie
- Laboratoire de biochimie
- CHU d'Angers
- UF de Biologie Moléculaire
- Institut de Recherche en Santé - Université de Nantes
- L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291
- CHU de Marseille - Hôpital de la Timone
- Laboratoire de génétique moléculaire
- Institut für Medizinische Genetik und angewandte Genomik Tübingen
- Institut für Medizinische Genetik und angewandte Genomik
- Deutsches MITONET e.V. c/o Dr. Bert Obermaier-Kusser
- Deutsches MITONET e.V.
- Institut für Humangenetik der TU München
- Institut für Humangenetik
- Institut für Humangenetik der TU München
- Institut für Humangenetik
- Institut für Humangenetik der TU München
- Institut für Humangenetik
- LMU Klinikum der Universität München - Campus Großhadern
- Arbeitsgruppe Neurogenetik
- Zentrum für Neuropathologie und Prionforschung (ZNP)
- Zentrum für Neuropathologie und Prionforschung der LMU München
- Charité / Max-Delbrück-Centrum für Molekulare Medizin
- Muskelforschung mit Hochschulambulanz für Muskelkrankheiten
- IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
- Servizio Clinico di Consulenza Genetica
- Radboudumc - Radboud universitair medisch centrum
- Radboud Centrum voor Mitochondriële Geneeskunde
- AZM - Academisch Ziekenhuis Maastricht
- Laboratorium Clinical Genomics
- Hospital Universitari de Bellvitge
- Unidad de Neuropatología
- Instituto de Investigación Hospital 12 de Octubre
- Grupo de investigación en Enfermedades Raras, Mitocondriales y Neuromusculares
- Oxford University Begbroke Science Park
- Zyoxel Limited
- The Sheffield Children's Hospital
- Department of Clinical Chemistry
- The Sheffield Children's Hospital
- Department of Clinical Chemistry
- Newcastle upon Tyne Hospitals NHS Trust
- John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine
- Birmingham Children's Hospital NHS Foundation Trust
- Department of Clinical Inherited Metabolic Disorders
- St James's University Hospital
- Department of Biochemical Genetics

Colombie-Britannique
VANCOUVER
Maternal Infant Child and Youth Research Network (MICYRN)

Ontario
OTTAWA, ONTARIO
CIMDRN- Canadian Inherited Metabolic Diseases Research Network

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
NMD-CHIP: Development of targeted DNA-Chips for High Throughput Diagnosis of NeuroMuscular Disorders

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND
MYORES: European Muscle Development Network (FINISHED)

ILE-DE-FRANCE
PARIS
STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy

NOUVELLE AQUITAINE
BORDEAUX
MeetOChondrie: research group on mitochondria and related disorders

OCCITANIE
TOULOUSE
Réseau Sud-Ouest des erreurs innées du métabolisme

PAYS DE LA LOIRE
ANGERS
French network on mitochondrial diseases

PAYS DE LA LOIRE
NANTES
FROGH : FRench Regional Origins in Genetics for Health

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE
NMD-CHIP: development of targeted DNA-chips for high throughput diagnosis of neuromuscular disorders

Baden-Württemberg
TÜBINGEN
Neuromics: Integrated European -omics research project for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases

Bayern
MÜNCHEN
mitoNET: german Network for mitochondrial diseases

Bayern
MÜNCHEN
GENOMIT: Mitochondrial disorders - Connecting Biobanks, Empowering Genetic Diagnostics and Exploring Disease Models

Bayern
MÜNCHEN
GENOMIT: Mitochondrial Disorders: from a genome-wide Registry to medical genomics, toward molecular mechanisms and new therapies

Bayern
MÜNCHEN
GENOMIT- Mitochondrial Disorders: from a pan-European Registry to medical genetics, toward molecular mechanisms and new therapeutic options

Bayern
MÜNCHEN
mitoNET: german Network for mitochondrial diseases

Bayern
MÜNCHEN
BNE: BrainNet Europe II: European brain tissue bank

Berlin
BERLIN
EUROMUSCLENET: Europäisches Informations-Netzwerk über muskuläre Erkrankungen

LAZIO
ROMA
UnRareNet: a muticenter collaborative research network for the identification and study of rare undiagnosed patients (completed)

Gelderland
NIJMEGEN
EUMITOCOMBAT: rational treatment strategies combating mitochondrial oxidative phosphorylation (OXPHOS) disorders (TERMINATED)

Limburg
MAASTRICHT
MITOCIRCLE: mitochondrial diseases: from bedside to genome to bedside (FINISHED)

Cataluña
L'HOSPITALET DE LLOBREGAT
CIEN: Spanish Network for Cooperative Research in Neurological diseases

Madrid
MADRID
Network for clinical and epidemiological study on mitocondrial respiratory chain diseases in Spain (FINISHED)

Oxfordshire
BEGBROKE
TissueGEN: THE PRODUCTION OF A 3D HUMAN TISSUE DISEASE PLATFORM TO ENABLE REGENERATIVE MEDICINE THERAPY DEVELOPMENT

South Yorkshire
SHEFFIELD
ERNDIM: European research network for evaluation and improvement of screening-diagnosis-treatment of inherited disorders of metabolism

South Yorkshire
SHEFFIELD
MetBioNet - National Metabolic Biochemistry Network

Tyne & Wear
NEWCASTLE UPON TYNE
TREAT-NMD: Accelerating Treatments for Neuromuscular Diseases (research)

West Midlands
BIRMINGHAM
Midlands Muscle Network

West Yorkshire
LEEDS