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Research projects
UNITED KINGDOM
Cambridgeshire
CAMBRIDGE
Pathogenic mechanisms and effects of treatment in chronic, idiopathic inflammatory myopathies, myositis
University of Cambridge
Department of Medicine
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Immunopathogen autoimmune inflammatory myopathies--polymyositis/dermatomyositis
Institution: Information not provided - US
ITALY
EMILIA ROMAGNA
ADDRESS: NOT PROVIDED - IT
Role of PTX3 in the pathogenesis of idiopathic inflammatory myopathies
Institution: Information not provided - IT
SPAIN
Cataluña
BARCELONA
Mitochondrial dynamics as a key process to prevent muscle inflammation and search of novel therapies in inflammatory myopathies
IRB Barcelona - Instituto de Investigación Biomédica
Enfermedades metabólicas complejas y mitocondrias
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Innate immune activation in autoimmune myopathy
Institution: Information not provided - US
AUSTRIA
WIEN
WIEN
iDysChart: Charting key molecules and mechanisms of human immune Dysregulation
AKH BT 25.3
Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases
CANADA
Ontario
TORONTO
Protein transport into and across cellular membranes
Sunnybrook Health Sciences Centre
Sunnybrook Research Institute
FRANCE
AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
Mesenchymal stem cells improve the muscle acquired myopathy after sepsis
Institution: Information not provided - FR
FRANCE
AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
Dysfunction of muscle stem cells in sepsis and regenerative therapy
Institution: Information not provided - FR
FRANCE
ILE-DE-FRANCE
PARIS
TRAJHISTORY project: assessing single cell TRAJectories and alterations of cell communication and tissue HISTOry to get causal insights into rare and catastrophic glomerular disease
PARCC - Paris-Centre de recherche Cardiovasculaire (U970)
Centre de Recherche Cardiovasculaire
KOREA, REPUBLIC OF
KOREA, REPUBLIC OF
KOREA
Factors associated with chronic and severe status of rare disease and health-related quality of life among rare disease patients
Korea National Institute of Health
KOREA, REPUBLIC OF
KOREA, REPUBLIC OF
KOREA
Integrative study of epigenetic variations in rare diseases
Korea National Institute of Health
KOREA, REPUBLIC OF
KOREA, REPUBLIC OF
SEOUL
Establishment and operation of the clinical research network for rare glomerular diseases
Yonsei University College of Medicine
BELGIUM
ANTWERPEN
ANTWERPEN
A preclinical study to treat neuromuscular diseases caused by mutations in the small heat shock protein HSPB8
University of Antwerp - UA, Campus Drie Eiken
Peripheral Neuropathy Research Group
CANADA
Ontario
OTTAWA, ONTARIO
Inhibition of HDAC6 as Therapeutic Strategy in Neuromuscular Diseases
University of Ottawa
Faculty of Medicine -
FRANCE
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
FRANCE
AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
Impact du type d'interface chez les patients neuromusculaires traités par ventilation non invasive nocturne: un essai croisé randomisé
Institution: Information not provided - FR
FRANCE
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
FRANCE
AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
L'annonce diagnostique d'une maladie neuromusculaire à l'âge adulte. Retentissements psychologiques des processus communicationnels entre médecin et patient
Institution: Information not provided - FR
FRANCE
AUVERGNE-RHONE-ALPES
GRENOBLE
Early identification of respiratory exacerbations using NIV device monitoring in slowly progressive neuromuscular disorders
CHU Grenoble Alpes - Site Nord - Hôpital Couple Enfant
Laboratoire EFCR/Pneumologie
FRANCE
AUVERGNE-RHONE-ALPES
LYON
Interplay between cell metabolism and alternative splicing
ENS - Ecole normale supérieure de Lyon
Laboratoire de biologie et modélisation de la cellule - UMR5239
FRANCE
AUVERGNE-RHONE-ALPES
LYON
Amino acid metabolism and alternative splicing
ENS - Ecole normale supérieure de Lyon
Laboratoire de biologie et modélisation de la cellule - UMR5239
FRANCE
AUVERGNE-RHONE-ALPES
LYON
Development and validation study of a Motor Function Measure digitalized playful completion modules
Hospices Civils de Lyon
FRANCE
ILE-DE-FRANCE
CRÉTEIL
TRANSLAMUSCLE: An integrated translational program from basic research to biotherapies in stem cells and molecular medicine of the neuromuscular system
Faculté de Médecine de Créteil
Equipe "Biologie du système neuromusculaire"
FRANCE
ILE-DE-FRANCE
CRÉTEIL
An integrated translational program for neuromuscular disorders
Hôpitaux Universitaires Henri Mondor
Centre expert de maladie neuro-musculaire
FRANCE
ILE-DE-FRANCE
GARCHES
Patient-ventilator asynchrony in neuromuscular disease: real life evaluation using devices softwares
CHU Paris IdF Ouest - Hôpital Raymond Poincaré
Service de Physiologie-Explorations Fonctionnelles - Consultations Troubles du sommeil
FRANCE
ILE-DE-FRANCE
PARIS
Nuclear genetic suppressors in yeast models of mtDNA mutations associated to neuromuscular diseases
Institut National de la Santé et de la Recherche Médicale
FRANCE
ILE-DE-FRANCE
PARIS
sPAM: Developing peptide-based drugs to target ataxin-2 in neuromuscular disease - FR
Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
Equipe "Traitement de la sclérose latérale amyotrophique : de la génétique au poisson zèbre"
FRANCE
PAYS DE LA LOIRE
NANTES
ExoMS: a 3D printed exoskeleton with springs to enhance upper limb mobility of children with neuromuscular disease
CHU de Nantes
CHU Nantes
FRANCE
PAYS DE LA LOIRE
NANTES
New modulators of the skeletal and cardiac ryanodine receptors
CHU de Nantes
CHU Nantes
FRANCE
PROVENCE-ALPES-COTE D'AZUR
MARSEILLE
Modelisation and Therapeutic Approaches for Rare Diseases
Université de médecine Aix-Marseille Université
Centre de Génétique de Marseille (Marseille Medical Genetics - MMG)
FRANCE
PROVENCE-ALPES-COTE D'AZUR
MARSEILLE
A quantitative MRI platform for simultaneous and automatic quantification of fat infiltration and T2 relaxation times in neuromuscular disorders - FR
Université de médecine Aix-Marseille Université
Centre de Résonance Magnétique Biologique et Médicale
IRELAND
County Dublin
DUBLIN
Establishment of a scalable semantic data architecture for study of chronic disease
Trinity College Dublin
ADAPT Centre
IRELAND
County Dublin
DUBLIN
Ensemble averaging for complex disease prediction in the large p small n domain from multiple data sources
Trinity College Dublin
School of Computer Science and Statistcs - O'Reilly Institute
ISRAEL
ISRAEL
TEL AVIV
A quantitative MRI platform for simultaneous and automatic quantification of fat infiltration and T2 relaxation times in neuromuscular disorders - IL
University of Tel-Aviv
Dep. of Bio-Medical Engineering
ITALY
LAZIO
ROMA
Cellular network driving neuromuscular junction stability
Sapienza Università di Roma
Università degli Studi di Roma "La Sapienza"
NORWAY
Østlandet
OSLO
Mekanisk hostestøtte for barn med nevromuskulær sykdom og svak hoste
Oslo University Hospital, Ullevaal
Oslo University Hospital, Ullevål
UNITED STATES
California
PALO ALTO
sPAM: Developing peptide-based drugs to target ataxin-2 in neuromuscular disease - US
Stanford University School of Medicine
Department of Genetics
FRANCE
ILE-DE-FRANCE
PARIS
Neuroglobin gene overexpression: a promising tool for treating a large spectrum of neurological disorders thanks to its ability to safely and sustainably preserve mitochondrial integrity
Institut National de la Santé et de la Recherche Médicale
ITALY
LAZIO
ROMA
Diverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
SPAIN
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
Multicentric Research projects
- Cliniques universitaires Saint-Luc - UCLouvain
- Laboratory of Nephrology
- Faculté de médecine de Clermont-Ferrand
- Laboratoire de Génétique, Reproduction et Développement
- CHU de Marseille - Hôpital de la Timone
- Laboratoire de génétique moléculaire
- Zentrum für Kinder- und Jugendmedizin des Universitätsklinikums Heidelberg
- Klinik für Kinderheilkunde I - Sektion Pädiatrische Nephrologie
- Charité / Max-Delbrück-Centrum für Molekulare Medizin
- Muskelforschung mit Hochschulambulanz für Muskelkrankheiten
- Trinity College Dublin
- ADAPT Centre
- University of Tel-Aviv
- Dep. of Bio-Medical Engineering
- Stanford University School of Medicine
- Department of Genetics
BELGIUM
ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
EUNEFRON: the European network for the study of orphan nephropathies
FRANCE
AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND
MYORES: European Muscle Development Network (FINISHED)
FRANCE
PROVENCE-ALPES-COTE D'AZUR
MARSEILLE
NMD-CHIP: development of targeted DNA-chips for high throughput diagnosis of neuromuscular disorders
GERMANY
Baden-Württemberg
HEIDELBERG
EURENOMICS: European Consortium for High-Throughput Research in Rare Kidney Diseases (TERMINATED)
GERMANY
Berlin
BERLIN
EUROMUSCLENET: Europäisches Informations-Netzwerk über muskuläre Erkrankungen
IRELAND
County Dublin
DUBLIN
HELICAL - Health Data Linkage for Clinical Benefit
ISRAEL
ISRAEL
TEL AVIV
A quantitative MRI platform for simultaneous and automatic quantification of fat infiltration and T2 relaxation times in neuromuscular disorders
UNITED STATES
California
PALO ALTO