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Projetos de investigação encerrados = 
Financiado por um membro do IRDiRC = 
Estudo envolvendo membros das ERN em pelo menos dois Estados-Membros = 
Projetos de investigação
ITALIA
EMILIA ROMAGNA
ADDRESS: NOT PROVIDED - IT
Dissecting the retrograde signalling that controls neuromuscular Junction
Institution: Information not provided - IT
BELGICA
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 -
ESTADOS UNIDOS
California
PALO ALTO
sPAM: Developing peptide-based drugs to target ataxin-2 in neuromuscular disease - US
Stanford University School of Medicine
Department of Genetics
FRANCA
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
FRANCA
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
FRANCA
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
FRANCA
AUVERGNE-RHONE-ALPES
LYON
Development and validation study of a Motor Function Measure digitalized playful completion modules
Hospices Civils de Lyon
FRANCA
HAUTS-DE-FRANCE
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
FRANCA
HAUTS-DE-FRANCE
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
FRANCA
HAUTS-DE-FRANCE
ADDRESS: NOT PROVIDED - FR
Impact of blowpipe training on cough efficiency in neuromuscular patients : a prospective evaluation.
Institution: Information not provided - FR
FRANCA
HAUTS-DE-FRANCE
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
FRANCA
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"
FRANCA
ILE-DE-FRANCE
CRÉTEIL
An integrated translational program for neuromuscular disorders
Faculté de Médecine de Créteil
Equipe "Biologie du système neuromusculaire"
FRANCA
ILE-DE-FRANCE
CRÉTEIL
An integrated translational program for neuromuscular disorders
Hôpitaux Universitaires Henri Mondor
Centre expert de maladie neuro-musculaire
FRANCA
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
FRANCA
ILE-DE-FRANCE
GARCHES
Early identification of respiratory exacerbations using NIV device monitoring in slowly progressive neuromuscular disorders
CHU Paris IdF Ouest - Hôpital Raymond Poincaré
Service de Physiologie-Explorations Fonctionnelles - Consultations Troubles du sommeil
FRANCA
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
FRANCA
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"
FRANCA
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
FRANCA
PAYS DE LA LOIRE
NANTES
New modulators of the skeletal and cardiac ryanodine receptors
CHU de Nantes
CHU Nantes
FRANCA
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)
FRANCA
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
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
ITALIA
LAZIO
ROMA
Cellular network driving neuromuscular junction stability
Sapienza Università di Roma
Università degli Studi di Roma "La Sapienza"
ITALIA
LAZIO
ROMA
Unraveling HSPB3 physiological functions to understand its implication in neuromuscular diseases
Sapienza Università di Roma - Dip. di Biologia e Biotecnologie Charles Darwin
Dipartimento di Biologia e Biotecnologie - Charles Darwin
NORUEGA
Østlandet
OSLO
Cough augmentation with mechanical insufflation, exsufflation in children with neuromuscular disease and weak cough. A cross sectional study
Oslo University Hospital, Ullevaal
Oslo University Hospital, Ullevål
PAISES BAIXOS
Zuid-Holland
LEIDEN
Understanding histopathological alterations in neuromuscular disorders by spatial transcriptomics
LUMC - Leids Universitair Medisch Centrum
Afdeling Humane Genetica
REINO UNIDO
Tyne & Wear
NEWCASTLE UPON TYNE
Implementation of an artificial intelligence module on the web-based digital platform MyoShare for guiding the diagnosis of muscle diseases
University of Newcastle
John Walton Muscular Dystrophy Research Centre
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Congenital Myasthenic Syndromes
Institution: Information not provided - US
FRANCA
ILE-DE-FRANCE
PARIS
Congenital myasthenic syndrome: acetylcholine and GABA
CNRS - Centre national de la recherche scientifique
Centre National de la Recherche Scientifique
FRANCA
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
ITALIA
LAZIO
ROMA
Diverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
PORTUGAL
NORTE
PORTO
Qual o papel da adenosina na disfunção de ambas as sinapses neuromusculares e imunológicas nos síndromes miasténicos?
Instituto de Ciências Biomédicas Abel Salazar
Unidade Multidisciplinar de Investigação Biomédica
ALEMANHA
Berlin
BERLIN
Counselling needs in myasthenia gravis: a retrospective quantitative and qualitative descriptive analysis of patient enquiries
Charité - Universitätsmedizin Berlin (CCM)
Klinik für Neurologie (CCM)
ALEMANHA
Berlin
BERLIN
Treatment satisfaction of myasthenia patients under complement inhibitors in standard clinical care in Germany - a multicenter observational study
Charité - Universitätsmedizin Berlin (CCM)
Klinik für Neurologie (CCM)
AUSTRIA
WIEN
WIEN
Biological markers in Myasthenia gravis
Universitätsklinikum - AKH Wien
Abteilung für Neuropathologie und Neurochemie
CANADA
Ontario
OTTAWA, ONTARIO
A study of the NMJ in GFPT1-deficient zebrafish
University of Ottawa
Faculty of Medicine -
CANADA
Ontario
TORONTO
Signal Processing Methods in Detecting Myasthenia Gravis Using Electrooculography Signals
Toronto Metropolitan University
Electrical, Computer, and Biomedical Engineering
ESTADOS UNIDOS
Texas
GALVESTON
Target specific antibody-siRNA conjugate therapy for experimental myasthenia
The University of Texas Medical Branch
Department of Microbiology and Immunology
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Characterizing the autoantibody-producing B-cell in MuSK Myasthenia gravis and cloning the MuSK autoantibody to unravel pathogenic mechanisms of MuSK autoantibodies
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Acetylcholine receptor binding B cells as biomarker for myasthenia gravis
Institution: Information not provided - US
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Characterization of agrin/lrp4 antibody-positive myasthenia gravis
Institution: Information not provided - US
FINLANDIA
Finland
HELSINKI
TARID - Thymic abnormalities in rare immunological diseases -FI
University of Helsinki
FRANCA
HAUTS-DE-FRANCE
ADDRESS: NOT PROVIDED - FR
Guenuine mouse models to analyze congenital myasthenic syndrome with acetylcholinesterase deficit
Institution: Information not provided - FR
FRANCA
ILE-DE-FRANCE
PARIS
Activation of AHR and mechanisms of cell alteration in the myasthenia gravis model
Institut de Myologie - Hôpital Pitié-Salpêtrière
Centre de Recherche en Myologie
FRANCA
ILE-DE-FRANCE
PARIS
MuSK frizzled-like domain at the neuromuscular junction: novel insight into pathophysiology and therapeutics for myasthenia
Institut de Myologie - Hôpital Pitié-Salpêtrière
Connectivité Neuromusculaire en Santé et Pathologie
FRANCA
ILE-DE-FRANCE
PARIS
MuSK frizzled-like domain at the NMJ: novel insight into pathophysiology and therapeutics for myasthenia
Institut de Myologie - Hôpital Pitié-Salpêtrière
Connectivité Neuromusculaire en Santé et Pathologie
FRANCA
ILE-DE-FRANCE
PARIS
MODCOM: Modulation of trans-synaptic communication at the neuromuscular junction: from signaling to therapeutic strategies
Institut de Myologie - Hôpital Pitié-Salpêtrière
Connectivité Neuromusculaire en Santé et Pathologie
FRANCA
ILE-DE-FRANCE
PARIS
MuSK intracellular pathways in congenital myasthenic syndromes
Université Paris Descartes - Paris 5
Centre de Neurophysique, Physiologie et Pathologie - CNRS UMR 8119
GRECIA
ATTIKI
ATHENS
Preclinical study of antigen-specific tolerance induction for the treatment of myasthenia gravis
Hellenic Pasteur Institute
Laboratory of molecular neurobiology and immunology
GRECIA
GREECE
ADDRESS: NOT PROVIDED - GR
Preclinical assessment of an antigen-specific therapeutic approach for MG
Institution: Information not provided - GR
ITALIA
EMILIA ROMAGNA
ADDRESS: NOT PROVIDED - IT
Functional assessment of skeletal muscle beta2-adrenoceptor modulation by the catecholaminergic component of motor nerves, explored using in vivo optogenetics and multiphoton imaging
Institution: Information not provided - IT
ITALIA
LAZIO
ROMA
Effect of Rituximab therapy on T-cell repertoire in MuSK positive Myasthenia Gravis
Università Cattolica del Sacro Cuore
Istituto di Patologia generale
ALEMANHA
Berlin
BERLIN
MYA-IN-DEPTH: Myasthenia gravis - In-depth characterization of antibody-specific pathomechanisms and identification of novel autoantibodies
Charité - Universitätsmedizin Berlin (CVK)
Klinik für Neurologie mit Experimenteller Neurologie (CVK)
Projetos de investigação multicêntricos
- Charité / Max-Delbrück-Centrum für Molekulare Medizin
- Muskelforschung mit Hochschulambulanz für Muskelkrankheiten
- Stanford University School of Medicine
- Department of Genetics
- Faculté de médecine de Clermont-Ferrand
- Laboratoire de Génétique, Reproduction et Développement
- University of Tel-Aviv
- Dep. of Bio-Medical Engineering
- Institut für Medizinische Genetik und angewandte Genomik Tübingen
- Institut für Medizinische Genetik und angewandte Genomik
- Institut de Myologie - Hôpital Pitié-Salpêtrière
- Equipe "Myasthenia Gravis: étiologie, physiopathologie & approche thérapeutique"
ALEMANHA
Berlin
BERLIN
EUROMUSCLENET: European information network on muscle diseases -terminated -
ESTADOS UNIDOS
California
PALO ALTO
sPAM: Developing peptide-based drugs to target ataxin-2 in neuromuscular disease
FRANCA
AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND
MYORES: European Muscle Development Network (FINISHED)
ISRAEL
ISRAEL
TEL AVIV
A quantitative MRI platform for simultaneous and automatic quantification of fat infiltration and T2 relaxation times in neuromuscular disorders
ALEMANHA
Baden-Württemberg
TÜBINGEN
Neuromics: Integrated European -omics research project for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases
FRANCA
ILE-DE-FRANCE
PARIS
FRANCA
ILE-DE-FRANCE
PARIS