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Financiado por un miembro del IRDiRC = 
Miembro de una ERN = 
Proyectos de investigación
FRANCIA
AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
Investigating novel functions of the Kir2.1 potassium channels in muscle and during bone morphogenesis
Institution: Information not provided - FR
CANADA
Colombie-Britannique
VICTORIA
Long QT Syndrome in Northern British Columbia:Understanding the impact
University of Victoria
Community Genetics Research Program/Island Medical Program
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
Modeling a rare autonomic disease
Institution: Information not provided - US
FRANCIA
ILE-DE-FRANCE
PARIS
Phenotypic and genetic studies on long QT syndrome, familial
CHU Paris Nord-Val de Seine - Hôpital Xavier Bichat-Claude Bernard
Service de cardiologie - Rythmologie
JAPON
JAPAN
AICHI
Development of novel therapeutic modalities for compromised neuromuscular signal transmission and skeletal muscle excitation
Nagoya University Graduate School of Medicine
Division of Neurogenetics
JAPON
JAPAN
KYOTO
Drug discovery targeted to alternative splicing variants in congenital long-QT syndrome
Kyoto University Graduate School of Medicine
Department of Cardiovascular Medicine
SUECIA
Region Västerbotten
UMEÅ
Familial long QT syndrome and familial hypertrophic cardiomyopathy in Sweden: clinical, molecular, genetic and experimental studies
University Hospital of Umeå
Department of Public Health and Clinical Medicine
ALEMANIA
Baden-Württemberg
TÜBINGEN
Treat-ION: New Therapies for Neurological Ion Channel and Transporter Disorders
Hertie-Institut für klinische Hirnforschung (HIH)
Abteilung für Neurologie mit Schwerpunkt Epileptologie
ALEMANIA
Bayern
MÜNCHEN
Treat-ION: New Therapies for Neurological Ion Channel and Transporter Disorders
Klinikum der Universität München
Institut für Schlaganfall- und Demenzforschung
ALEMANIA
Hamburg
HAMBURG
Treat-ION: New Therapies for Neurological Ion Channel and Transporter Disorders
UKE - Universitätsklinikum Hamburg-Eppendorf
Klinik und Poliklinik für Kinder- und Jugendmedizin
ALEMANIA
Nordrhein-Westfalen
BONN
Treat-ION: New Therapies for Neurological Ion Channel and Transporter Disorders
DZNE-Standort Bonn
Deutsches Zentrum für Neurodegenerative Erkrankungen e. V.
ALEMANIA
Nordrhein-Westfalen
JÜLICH
Treat-ION: New Therapies for Neurological Ion Channel and Transporter Disorders
Forschungszentrum Jülich GmbH
Institute of Complex Systems 4 (ICS-4) Zelluläre Biophysik
JAPON
JAPAN
TOKYO
Establishment of Integrated Genome Analysis Center for Hereditary Muscle Disease
National Center of Neurology and Psychiatry
Department of Neuromuscular Research
FRANCIA
ILE-DE-FRANCE
PARIS
Predictive genetic testing in hereditary cardiac diseases: Evaluation of psycho-social impact and multidisciplinary management
APHP.Sorbonne Université, Hôpital de la Pitié-Salpêtrière
Départements de génétique et de cardiologie - Centre de référence des maladies cardiaques héréditaires
BELGICA
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
CANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute
ESPAÑA
Madrid
MADRID
Desarrollo de algoritmos bioinformáticos basados en redes y biología de sistemas para la búsqueda de nuevos genes responsables de enfermedades raras de origen genético
Fundación Jiménez Díaz
Área de Genética y Genómica
ESPAÑA
Madrid
MADRID
RAREGenomics: Red de Recursos Genómicos, Funcionales, Clínicos y Terapeúticos para el Estudio de las Enfermedades Raras Neurológicas
Hospital Universitario Fundación Jiménez Díaz
Servicio de Genética Clínica
ESTADOS UNIDOS
Washington
ADDRESS: NOT PROVIDED - US
A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US
FRANCIA
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
FRANCIA
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
FRANCIA
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
FRANCIA
AUVERGNE-RHONE-ALPES
BRON
Collaborative program for a systematic, mecanistic and pharmacologic approach of rare neuromuscular diseases
CHU de Lyon HCL - GH Est
Centre de biotechnologie cellulaire
FRANCIA
ILE-DE-FRANCE
EVRY
NMD-CHIP: design, production and technical validation of candidate genes targeted chips (WP3)
Généthon
Centre de Recherche Généthon
FRANCIA
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
FRANCIA
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
ITALIA
VENETO
PADOVA
The role of Raptor/mTORC1 in adult skeletal muscle
Venetian Institute of Molecular Medicine
Dipartimento di Scienze Biomediche
JAPON
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
JAPON
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
JAPON
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
REINO UNIDO (EL)
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
ITALIA
LAZIO
ROMA
Diverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
Proyectos de investigación multicéntricos
- Institut für Medizinische Genetik und angewandte Genomik Tübingen
- Institut für Medizinische Genetik und angewandte Genomik
- Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
- Equipe "Bases moléculaires, physiopathologie et traitement des maladies neurodégénératives"
- Charité / Max-Delbrück-Centrum für Molekulare Medizin
- Muskelforschung mit Hochschulambulanz für Muskelkrankheiten
- University of British Columbia
- Maternal Infant Child and Youth Research Network
- Faculté de médecine de Clermont-Ferrand
- Laboratoire de Génétique, Reproduction et Développement
- CHU Paris IdF Ouest - HEGP Hôpital Européen Georges Pompidou
- Thérapie cellulaire en pathologie cardiovasculaire
- Muséum National d'Histoire Naturelle
- Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196
- 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
- IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
- Servizio Clinico di Consulenza Genetica
- Newcastle upon Tyne Hospitals NHS Trust
- John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine
- Hospital Universitari de Bellvitge
- Unidad de Neuropatología
ALEMANIA
Baden-Württemberg
TÜBINGEN
Neuromics: Integrated European -omics research project for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases
FRANCIA
ILE-DE-FRANCE
PARIS
French research network on muscular channelopathies and related diseases
ALEMANIA
Berlin
BERLIN
EUROMUSCLENET: European information network on muscle diseases -terminated -
CANADA
Colombie-Britannique
VANCOUVER
Maternal Infant Child and Youth Research Network (MICYRN)
FRANCIA
AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND
MYORES: European Muscle Development Network (FINISHED)
FRANCIA
ILE-DE-FRANCE
PARIS
CaPTAA: Cardiac Progenitors TransAtlantic Alliance
FRANCIA
ILE-DE-FRANCE
PARIS
STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy
FRANCIA
PAYS DE LA LOIRE
NANTES
FROGH : FRench Regional Origins in Genetics for Health
FRANCIA
PROVENCE-ALPES-COTE D'AZUR
MARSEILLE
NMD-CHIP: development of targeted DNA-chips for high throughput diagnosis of neuromuscular disorders
ITALIA
LAZIO
ROMA
UnRareNet: a muticenter collaborative research network for the identification and study of rare undiagnosed patients (completed)
REINO UNIDO (EL)
Tyne & Wear
NEWCASTLE UPON TYNE
TREAT-NMD: Accelerating Treatments for Neuromuscular Diseases (research)
ESPAÑA
Cataluña
L'HOSPITALET DE LLOBREGAT