Orphanet: Search by disease/gene
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Funded by an IRDiRC member =

Research projects

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

Funded by an IRDiRC memberPrion protein dysfunction in inherited metabolic myopathies
Institution: Information not provided - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
AUBIÈRE

Funded by an IRDiRC memberMolecular mechanisms of mtDNA maintenance in human health and disease
Laboratoire de Physique de Clermont
Health, Environment and Energy

FRANCE

NOUVELLE AQUITAINE
BORDEAUX

Funded by an IRDiRC memberThe bacterial protein CNF1 as a novel strategy to counteract mitochondrial encephalomyopathies
CHU de Bordeaux-GH Pellegrin
Laboratoire Maladies Rares : Génétique et Métabolisme (MRGM)

FRANCE

OCCITANIE
TOULOUSE

Funded by an IRDiRC memberInfluence of mtDNA background (haplogroups) on mitochondrial pathologies.
Faculté de médecine de Toulouse
Equipe de "Médecine évolutive"

FRANCE

PAYS DE LA LOIRE
ANGERS

Funded by an IRDiRC memberAddressing Complex I deficiencies through drug screening
CHU d'Angers
UF de Biologie Moléculaire

UNITED KINGDOM

Tyne & Wear
NEWCASTLE UPON TYNE

Funded by an IRDiRC memberMICA: 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)

FRANCE

PROVENCE-ALPES-COTE D'AZUR
NICE

Funded by an IRDiRC memberMitochondrial myopathies with mtDNA instability: the role of cristae maintenance
Faculté de médecine de Nice Sophia-Antipolis
IRCAN - Institut de Recherche sur le Cancer et le Vieillissement (INSERM U 1081 - CNRS UMR7284)

GERMANY

Saarland
HOMBURG

Visual impairment and blindness in multiple-handicapped children
Universitätsklinikum des Saarlandes
AG Kinder- & Neuroophthalmologie

UNITED KINGDOM

Cambridgeshire
ST NEOTS

UNITED KINGDOM

Greater London
LONDON

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMitochondrial encephalomyopathies and mental retardation
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberPathogenic mechanisms and therapuetic strategies in melas
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberTherapeutic approaches in cell models of mitochondrial diseases
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMitochondrial encephalomyopathies: approaches to treatment
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

JAPAN

JAPAN
TOKYO

Funded by an IRDiRC memberEstablishment of Integrated Genome Analysis Center for Hereditary Muscle Disease
National Center of Neurology and Psychiatry
Department of Neuromuscular Research

BELGIUM

ANTWERPEN
ANTWERPEN

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
BRON

FRANCE

ILE-DE-FRANCE
EVRY

ITALY

VENETO
PADOVA

Funded by an IRDiRC memberThe role of Raptor/mTORC1 in adult skeletal muscle
Venetian Institute of Molecular Medicine
Dipartimento di Scienze Biomediche

SPAIN

Madrid
MADRID

UNITED KINGDOM

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

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

JAPAN

JAPAN
TOKYO

Funded by an IRDiRC memberFormation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute

Multicentric Research projects