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Research projects

Alberta
CALGARY
Identifying Cellular and Molecular Modifiers of Muscular Dystrophy
University of Calgary
Department of Biochemistry and Molecular Biology

Ontario
OTTAWA
Differential role of myogenic regulatory factors in establishing muscle-specific gene expression
Ottawa Hospital Research Institute
Sprott Center for Stem Cell Research

Ontario
OTTAWA
Satellite Stem Cells from Skeletal Muscle for the Treatment of Neuromuscular Disease
Ottawa Hospital Research Institute
Sprott Center for Stem Cell Research

Ontario
OTTAWA, ONTARIO
SIX family transcription factors in adult muscle regeneration.
University of Ottawa
Faculty of Medicine -

ILE-DE-FRANCE
PARIS
Development of an innovative magnetic resonance imaging protocol for the in-depth evaluation of the structure of skeletal muscle tissue in patients with muscular dystrophy
Institut de Myologie - Hôpital Pitié-Salpêtrière
Laboratoire d'imagerie et de spectroscopie par RMN

OCCITANIE
TOULOUSE
Intermuscular adipose tissue as a trigger of muscle wasting?
Institut des Maladies Métaboliques et Cardiovasculaires
Laboratoire de recherche sur les obésités

ISRAEL
REHOVOT
Mechanical signals transduced downstream of the LINC complex-mediated muscular dystrophies
Arnold R. Meyer Institute of Biological Sciences, Weizmann Institute of Science
Department of Molecular Genetics

EMILIA ROMAGNA
ADDRESS: NOT PROVIDED - IT
Study of the multiple functions of Nfix in Muscular Dystrophies: a focus on macrophage biology
Institution: Information not provided - IT

LAZIO
ROMA
Characterization of pathways regulating cell cycle and muscle-specific transcription during myogenic differentiation: therapeutical implications for muscle regeneration
Parco Scientifico Biomedico di Roma San Raffaele
Laboratorio di Endocrinologia e Metabolismo Molecolare

LOMBARDIA
MILANO
Drug repurposing of ERK inhibitors to target the transcription factor Nfix in dystrophic muscles: development of a new proof-of-concept study to hinder Muscular Dystrophies
Università degli Studi di Milano - Scienze Biomolecolari e Biotecnologiche
Dipartimento di Bioscienze

PIEMONTE
TORINO
GLUD1 as a potential target in Muscular Dystrophy
Università degli Studi di Torino
Dipartimento di Biotecnologie Molecolari e Scienze Della Vita

JAPAN
OSAKA
Identification of factors inducing MuSC expansion from overloaded muscle - JP
Osaka University Graduate School of Medicine

Cataluña
BARCELONA
Effect of Nintedanib in muscle fibrosis in a mouse model of sarcoglycanopathy and in the function of human and mouse FAP cells
Hospital de la Santa Creu i Sant Pau

Suisse Alémanique
SCHWERZENBACH
Development of novel stem cell-based models to study myogenesis
Bewegung und Gesundheit Departement Gesundheitswissenschaften und Technologie
Department of Health Sciences and Technology - Laboratory of Regenerative and Movement Biology

Tartu
TARTU
IDOLS-G: Improved diagnostic output in large sarcomeric genes - EE
Department of Clinical Genetics - University of Tartu
Department of Clinical Genetics

Finland
HELSINKI
IDOLS-G: Improved diagnostic output in large sarcomeric genes -FI
Folkhälsan
Folkhälsan Research Center

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

Közép-Magyarország
BUDAPEST
IDOLS-G: Improved diagnostic output in large sarcomeric genes - HU
Semmelweis University
Department of Biophysics and Radiation Biology

TOSCANA
SESTO FIORENTINO (FIRENZE)
IDOLS-G: Improved diagnostic output in large sarcomeric genes - IT
Università degli Studi di Firenze
Dipartimento di Biologia

Noord-Holland
AMSTERDAM
IDOLS-G: Improved diagnostic output in large sarcomeric genes - NL
Amsterdam UMC, locatie VUmc
Afdeling Fysiologie

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

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

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

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

Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute

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

Washington
ADDRESS: NOT PROVIDED - US
A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US

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

Ontario
OTTAWA, ONTARIO
Inhibition of HDAC6 as Therapeutic Strategy in Neuromuscular Diseases
University of Ottawa
Faculty of Medicine -

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

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

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

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

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

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

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

AUVERGNE-RHONE-ALPES
LYON
Development and validation study of a Motor Function Measure digitalized playful completion modules
Hospices Civils de Lyon

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"

ILE-DE-FRANCE
CRÉTEIL
An integrated translational program for neuromuscular disorders
Hôpitaux Universitaires Henri Mondor
Centre expert de maladie neuro-musculaire

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

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

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"

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

PAYS DE LA LOIRE
NANTES
New modulators of the skeletal and cardiac ryanodine receptors
CHU de Nantes
CHU Nantes

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)

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
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

LAZIO
ROMA
Cellular network driving neuromuscular junction stability
Sapienza Università di Roma
Università degli Studi di Roma "La Sapienza"

Østlandet
OSLO
Mekanisk hostestøtte for barn med nevromuskulær sykdom og svak hoste
Oslo University Hospital, Ullevaal
Oslo University Hospital, Ullevål

California
PALO ALTO
sPAM: Developing peptide-based drugs to target ataxin-2 in neuromuscular disease - US
Stanford University School of Medicine
Department of Genetics

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

LAZIO
ROMA
Diverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
Multicentric Research projects
- Faculté de médecine de Clermont-Ferrand
- Laboratoire de Génétique, Reproduction et Développement
- Institut für Medizinische Genetik und angewandte Genomik Tübingen
- Institut für Medizinische Genetik und angewandte Genomik
- Osaka University Graduate School of Medicine
- TAYS - Tampere University Hospital
- Neuromuscular Center
- Azienda Ospedaliera di Padova
- Clinica Pediatrica
- 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
- Stanford University School of Medicine
- Department of Genetics

AUVERGNE-RHONE-ALPES
CLERMONT-FERRAND
MYORES: European Muscle Development Network (FINISHED)

Baden-Württemberg
TÜBINGEN
Neuromics: Integrated European -omics research project for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases

JAPAN
OSAKA
Identification of factors inducing MuSC expansion from overloaded muscle

Finland
TAMPERE
IDOLS-G: Improved diagnostic output in large sarcomeric genes

VENETO
PADOVA
Brains for brain: research group of the European task force on brain and neurodegenerative lysosomal storage diseases

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE
NMD-CHIP: development of targeted DNA-chips for high throughput diagnosis of neuromuscular disorders

Berlin
BERLIN
EUROMUSCLENET: Europäisches Informations-Netzwerk über muskuläre Erkrankungen

ISRAEL
TEL AVIV
A quantitative MRI platform for simultaneous and automatic quantification of fat infiltration and T2 relaxation times in neuromuscular disorders

California
PALO ALTO