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    • FRANCE
    • ILE-DE-FRANCE
    • EVRY
    • NMD-CHIP: design, production and technical validation of candidate genes targeted chips (WP3)
    • Généthon
    • Généthon - Banque d'ADN et de cellules
    • More details
    • FRANCE
    • PROVENCE-ALPES-COTE D'AZUR
    • MARSEILLE
    • NMD-CHIP: chip design, synthesis and technical validation for known genes involved in neuromuscular diseases (WP2)
    • CHU de Marseille - Hôpital de la Timone
    • Laboratoire de génétique moléculaire
    • More details
    • FRANCE
    • PROVENCE-ALPES-COTE D'AZUR
    • MARSEILLE
    • Bio-clinical research on central core disease and malignant hyperthermia susceptibility
    • CHU de Marseille - Hôpital de la Timone
    • Centre de Résonance Magnétique et Médicale
    • More details
    • FRANCE
    • RHONE-ALPES
    • GRENOBLE
    • Strategy of molecular and functional study of skeletal muscle calcium homeostasis pathologies: malignant hyperthermia, core diseases (CCD, MmD)
    • CHU de Grenoble site Nord - Institut de biologie et de pathologie
    • Biochimie génétique et moléculaire
    • More details
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • IonNeurONet: Molecular diagnosis and exome sequencing in ion channel diseases (project 7)
    • CeGaT GmbH
    • CeGaT GmbH und Praxis für Humangenetik
    • More details
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • IonNeurONet: Regulation of surface expression and development of bio assays to improve the situation of patients harbouring a mutation leading to transporter defect in channelopathies (project 6)
    • Universitätsklinikum Tübingen
    • Molekulargenetisches Labor
    • More details
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • IonNeurONet: German Network on neurological and ophthalmological ion channel diseases: Coordination and management (project 1)
    • Universitätsklinikum Tübingen
    • Medizinische Genetik Tübingen
    • More details
    • GERMANY
    • Baden-Württemberg
    • TÜBINGEN
    • IonNeurONet: German Network on neurological and ophthalmological ion channel diseases: Coordination and management (project 1)
    • Universitätsklinikum Tübingen
    • Abteilung für Neurologie mit Schwerpunkt Epileptologie
    • More details
    • GERMANY
    • Baden-Württemberg
    • ULM
    • Excitation-contraction coupling in health and disease: Ion channel diseases - diagnosis, pathogenesis and therapy
    • Universität Ulm
    • Institut für Angewandte Physiologie
    • More details
    • GERMANY
    • Bayern
    • WÜRZBURG
    • NMD-CHIP: Chip validation and quality assessment (WP5)
    • Universität Würzburg - Biozentrum
    • Institut für Humangenetik
    • More details
    • 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
    • More details
    • ITALY
    • ABRUZZO
    • CHIETI SCALO
    • Altered calcium handling in Central Core Disease and Malignant Hyperthermia: understand molecular mechanisms and genetic background to develop innovative therapeutic interventions
    • Università degli Studi "G. D'Annunzio"
    • Dipartimento di Scienze Mediche Applicate e di Base
    • More details
    • ITALY
    • CAMPANIA
    • NAPOLI
    • Clinical, morphological and molecular study of italian patients with congenital myopathy
    • Azienda Ospedaliera Universitaria - Seconda Università degli Studi di Napoli
    • Laboratorio di Genetica Medica
    • More details
    • ITALY
    • EMILIA ROMAGNA
    • FERRARA
    • Molecular pathology of ryanodine receptor mutants linked to central core disease and malignant hyperthermia
    • Università degli Studi di Ferrara
    • Dipartimento di Medicina Sperimentale e Diagnostica
    • More details
    • ITALY
    • EMILIA ROMAGNA
    • MODENA
    • Characterization of the R7S mutation of Heat Shock Protein HSPB3 and of two novel mutations found in patients suffering of congenital myopathy: understanding the mechanisms leading to disease
    • Università degli Studi di Modena e Reggio Emilia
    • Dipartimento di Scienze Biomediche
    • More details
    • ITALY
    • LOMBARDIA
    • MILANO
    • Assessement of the pathogenic role of a missense variant in a benign autosomal dominant myopathy with hyperCKaemia
    • Fondazione IRCCS Istituto Neurologico "Carlo Besta"
    • U.O. Neurologia IV - Malattie Neuromuscolari e Neuroimmunologia
    • More details
    • ITALY
    • LOMBARDIA
    • MILANO
    • Dissecting the molecular basis of SEPN1-related-myopathies
    • Istituto di Ricerche Farmacologiche "Mario Negri"
    • Laboratorio di Malattie Neurologiche
    • More details
    • ITALY
    • LOMBARDIA
    • PAVIA
    • Clinical morphological and molecular study of italian patients with congenital myopathy
    • Università degli Studi di Pavia
    • Dipartimento di Genetica e Microbiologia
    • More details
    • ITALY
    • LOMBARDIA
    • SAN DONATO MILANESE
    • Validation of a neuromuscular individualized quality of life measure in Italy
    • IRCCS Policlinico San Donato
    • U.O. di Neurologia - Centro per lo Studio delle Malattie Neuromuscolari
    • More details
    • ITALY
    • VENETO
    • PADOVA
    • Il ruolo del segnale di calcio nucleare indotto dal inositolo 1,4,5-trisfosafato nello sviluppo della miopatia congenita 'central core'
    • Università degli Studi di Padova
    • Dipartimento di Scienze Biomediche Sperimentali
    • More details
    • NETHERLANDS
    • Gelderland
    • NIJMEGEN
    • McArm study: development of a motion controlled arm support
    • Radboudumc - Oost
    • Afdeling Revalidatie
    • More details
    • SWITZERLAND
    • Suisse Alémanique
    • BASEL
    • AcademicsIndustrials
    • Mutation Screening in RYR1 Gene in Patients with Malignant Hyperthermia and/or CCD
    • Universitätsspital Basel
    • Zentrum für Leher und Forschung, L408
    • More details
    • UNITED KINGDOM
    • Cambridgeshire
    • CAMBRIDGE
    • NIHR BioResource - Rare Disease: SPEED - Specialist Pathology: Evaluating Exomes in Diagnostics
    • Wellcome Trust/MRC Building
    • Cambridge Institute for Medical Research
    • More details
    • UNITED KINGDOM
    • Greater London
    • LONDON
    • Explaining and changing adverse illness perceptions in muscle disease by a cognitive behavioural therapy technique
    • Guy's Hospital
    • Health Psychology Section, Psychology Department, Institute of Psychiatry
    • More details
    • UNITED KINGDOM
    • Lothian
    • EDINBURGH
    • Genetic disorders of human brain development
    • Western General Hospital
    • MRC Human Genetics Unit
    • More details
    • UNITED KINGDOM
    • Tyne & Wear
    • NEWCASTLE UPON TYNE
    • TREAT-NMD: Accelerating Treatments for Neuromuscular Diseases (coordination)
    • International Centre for Life
    • Institute of Genetic Medicine
    • More details
    • UNITED KINGDOM
    • Tyne & Wear
    • NEWCASTLE UPON TYNE
    • NMD-CHIP: societal aspects of the development of targeted DNA-chips for high throughput diagnosis of neuromuscular disorders (WP7)
    • Newcastle University
    • Policy, Ethics and Life Sciences Research Centre
    • More details
    • UNITED KINGDOM
    • West Midlands
    • BIRMINGHAM
    • NIPSIGEN - Clinical translation of non-invasive prenatal diagnosis (NIPD) for single gene disorders (Health Innovation Challenge Fund)
    • Birmingham Women's NHS Foundation Trust
    • Regional Genetics Unit
    • More details