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Research projects
SWITZERLAND
Suisse Alémanique
BASEL
Pharmacological strategies to rescue RyR1 expression in congenital myopathies
Universitätsspital Basel
Department of Biomedicine
GERMANY
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
GERMANY
Bayern
MÜNCHEN
Treat-ION: New Therapies for Neurological Ion Channel and Transporter Disorders
Klinikum der Universität München
Institut für Schlaganfall- und Demenzforschung
GERMANY
Hamburg
HAMBURG
Treat-ION: New Therapies for Neurological Ion Channel and Transporter Disorders
UKE - Universitätsklinikum Hamburg-Eppendorf
Klinik und Poliklinik für Kinder- und Jugendmedizin
GERMANY
Nordrhein-Westfalen
BONN
Treat-ION: New Therapies for Neurological Ion Channel and Transporter Disorders
DZNE-Standort Bonn
Deutsches Zentrum für Neurodegenerative Erkrankungen e. V.
GERMANY
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
ITALY
ABRUZZO
CHIETI SCALO
Calsequestrins in calcium homeostasis and potential role in inherited human skeletal muscle diseases
Università degli Studi "G. D'Annunzio"
Dipartimento di Scienze Mediche Applicate e di Base
SPAIN
Comunidad Valenciana
VALENCIA
Spanish Registry of RYR1 and CACNA1S Polymorphisms in Unselected Population for Evaluation of Malignant Hyperthermia Susceptibility (MHS). RYCA Registration
IIS La Fe - Instituto de Investigación Sanitaria La Fe
Grupo de investigación en medicina perioperatoria, anestesiología y reanimación
SPAIN
Madrid
MADRID
Población en riesgo de hipertermia maligna: cohorte ambispectiva
Hospital Universitario La Paz
Servicio de Farmacología clínica
FRANCE
ILE-DE-FRANCE
PARIS
Investigating heterogeneities and morphogenesis of cranial mesoderm derived skeletal muscles
Institut Pasteur
CELL & DEVELOPMENTAL BIOLOGY
ITALY
LAZIO
ROMA
Diverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
ITALY
LOMBARDIA
PAVIA
Clinical morphological and molecular study of italian patients with congenital myopathy
Università degli Studi di Pavia
Dipartimento di Genetica e Microbiologia
SPAIN
Cataluña
BARCELONA
Transcriptome analysis using RNA-seq in patients with unresolved neuromuscular pathology after exome sequencing: optimization of the diagnostic algorithm
Hospital de la Santa Creu i Sant Pau
Servicio de Genética
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
BELGIUM
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
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
BRON
Collaborative program for a systematic, mecanistic and pharmacologic approach of rare neuromuscular diseases
CHU de Lyon HCL - GH Est
Centre de biotechnologie cellulaire
FRANCE
ILE-DE-FRANCE
EVRY
NMD-CHIP: design, production and technical validation of candidate genes targeted chips (WP3)
Généthon
Centre de Recherche Généthon
CANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute
FRANCE
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
FRANCE
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
JAPAN
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
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
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
JAPAN
TOKYO
Establishment of Integrated Genome Analysis Center for Hereditary Muscle Disease
National Center of Neurology and Psychiatry
Department of Neuromuscular Research
SPAIN
Madrid
MADRID
Bioinformatics developments based on network and systems biology to identify new candidate genes for rare genetic diseases
Fundación Jiménez Díaz
Área de Genética y Genómica
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US
Multicentric Research projects
- Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
- Equipe "Bases moléculaires, physiopathologie et traitement des maladies neurodégénératives"
- Institut für Medizinische Genetik und angewandte Genomik Tübingen
- Institut für Medizinische Genetik und angewandte Genomik
- Faculté de médecine de Clermont-Ferrand
- Laboratoire de Génétique, Reproduction et Développement
- CHU de Marseille - Hôpital de la Timone
- Laboratoire de génétique moléculaire
- Charité / Max-Delbrück-Centrum für Molekulare Medizin
- Muskelforschung mit Hochschulambulanz für Muskelkrankheiten
- Newcastle upon Tyne Hospitals NHS Trust
- John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine
- University of British Columbia
- Maternal Infant Child and Youth Research Network
- 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
FRANCE
ILE-DE-FRANCE
PARIS
French research network on muscular channelopathies and related diseases
GERMANY
Baden-Württemberg
TÜBINGEN
Neuromics: Integrated European -omics research project for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases
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
Berlin
BERLIN
EUROMUSCLENET: Europäisches Informations-Netzwerk über muskuläre Erkrankungen
UNITED KINGDOM
Tyne & Wear
NEWCASTLE UPON TYNE
TREAT-NMD: Accelerating Treatments for Neuromuscular Diseases (research)
CANADA
Colombie-Britannique
VANCOUVER
Maternal Infant Child and Youth Research Network (MICYRN)
FRANCE
ILE-DE-FRANCE
PARIS
STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy
FRANCE
PAYS DE LA LOIRE
NANTES