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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
Madrid
MADRID
Población en riesgo de hipertermia maligna: cohorte ambispectiva
Hospital Universitario La Paz
Servicio de Farmacología clínica
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
FRANCE
ILE-DE-FRANCE
PARIS
Investigating heterogeneities and morphogenesis of cranial mesoderm derived skeletal muscles
Institut Pasteur
CELL & DEVELOPMENTAL BIOLOGY
FRANCE
PAYS DE LA LOIRE
NANTES
Nav1.4 activators for a correction of SCN4A-related muscle weaknesses
Université de Nantes
L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291
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
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
UNITED STATES
Massachusetts
BOSTON
Modeling the heterogeneity of tropomyosin-related congenital myopathies
Boston Children's Hospital
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
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
SPAIN
Cataluña
BARCELONA
Igenco: In-Depth genomics and cross-omics analysis for undiagnosed rare diseases on a user-friendly collaborative platform
ISGlobal - Instituto de Salud Global de Barcelona
Programa de investigación en Enfermedades no transmisibles y medio ambiente
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
CANADA
Colombie-Britannique
VICTORIA
Silent Genomes: Reducing health care disparities and improving diagnostic success for children with genetic diseases from Indigenous populations
University of Victoria
Community Genetics Research Program/Island Medical Program
CANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute
ESTONIA
Tartu
TARTU
IDOLS-G: Improved diagnostic output in large sarcomeric genes - EE
Department of Clinical Genetics - University of Tartu
Department of Clinical Genetics
FINLAND
Finland
HELSINKI
IDOLS-G: Improved diagnostic output in large sarcomeric genes -FI
Folkhälsan
Folkhälsan Research Center
FRANCE
GRAND-EST
ILLKIRCH-GRAFFENSTADEN
IDOLS-G: Improved diagnostic output in large sarcomeric genes - FR
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Médecine translationnelle et neurogénétique
HUNGARY
Közép-Magyarország
BUDAPEST
IDOLS-G: Improved diagnostic output in large sarcomeric genes - HU
Semmelweis University
Department of Biophysics and Radiation Biology
ITALY
TOSCANA
SESTO FIORENTINO (FIRENZE)
IDOLS-G: Improved diagnostic output in large sarcomeric genes - IT
Università degli Studi di Firenze
Dipartimento di Biologia
NETHERLANDS
Noord-Holland
AMSTERDAM
IDOLS-G: Improved diagnostic output in large sarcomeric genes - NL
Amsterdam UMC, locatie VUmc
Afdeling Fysiologie
SPAIN
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Centro de Regulación Genómica
Archivo europeo de genomas y fenomas del CRG
SPAIN
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Clínic de Barcelona
Servicio de Inmunologia
SPAIN
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari Vall d'Hebron
Laboratorio de Genética
SPAIN
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital de la Santa Creu i Sant Pau
Servicio de Genética
SPAIN
Cataluña
BARCELONA
IDOLS-G: Mejora del rendimiento diagnóstico en genes sarcoméricos de gran tamaño - ES
Vall d'Hebron Institut de Recerca VHIR
Grupo de investigación en neurología pediátrica
SPAIN
Cataluña
L'HOSPITALET DE LLOBREGAT
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari de Bellvitge
Unidad de Genética Molecular
SPAIN
Madrid
MADRID
Identification of new genes causing rare diseases in pediatric patients, searching of genetic pharmacological targets, and drugs discovery, the steps for a personalized medicine
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en enfermedades raras, mitocondriales y neuromusculares
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 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
- University of Tel-Aviv
- Dep. of Bio-Medical Engineering
- Azienda Ospedaliera di Padova
- Clinica Pediatrica
- Stanford University School of Medicine
- Department of Genetics
- TAYS - Tampere University Hospital
- Neuromuscular Center
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
ISRAEL
ISRAEL
TEL AVIV
A quantitative MRI platform for simultaneous and automatic quantification of fat infiltration and T2 relaxation times in neuromuscular disorders
ITALY
VENETO
PADOVA
Brains for brain: research group of the European task force on brain and neurodegenerative lysosomal storage diseases
UNITED STATES
California
PALO ALTO
sPAM: Developing peptide-based drugs to target ataxin-2 in neuromuscular disease
FINLAND
Finland
TAMPERE