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Projets de recherche

Baden-Württemberg
FREIBURG
SMArtCARE : Clinical evaluation and monitoring of patients with spinal muscular atrophy
Zentrum für Kinder- und Jugendmedizin Freiburg
Klinik für Neuropädiatrie und Muskelerkrankungen

Nordrhein-Westfalen
ESSEN
DigiNOA: A Study to Assess the Clinical Validity of Konectom in Adults Living With Neuromuscular Disorders
Universitätsklinikum Essen
Klinik für Neurologie

Nordrhein-Westfalen
KÖLN
The power of protective modifier NCALD to develop an efficient combinatorial therapy for spinal muscular atrophy
Institut für Humangenetik am Universitätsklinikum Köln
Institut für Humangenetik

Saarland
HOMBURG
HRQoL SMA: Health-related quality of life of patients with spinal muscular atrophy
Universitätsklinikum des Saarlandes
Klinik für Allgemeine Pädiatrie und Neonatologie

Ontario
OTTAWA
Development of novel therapeutics for the treatment of the genetic disorder Spinal Muscular Atrophy
Ottawa Hospital Research Institute
Regenerative Medicine

Ontario
OTTAWA
The molecular pathogenesis of spinal muscular atrophy
Ottawa Hospital Research Institute
Regenerative Medicine

Ontario
OTTAWA, ONTARIO
An innovative registry-based trials platform to improve clinical care, outcomes, and health policy for children with treatable rare diseases
University of Ottawa
Department of Epidemiology and Community Medicine

Ontario
OTTAWA, ONTARIO
SMN and Post-transcriptional Regulation in Motor Neurons: Implications for Spinal Muscular Atrophy
University of Ottawa
Faculty of Medicine -

Andalucía
SEVILLA
Preclinical analysis of new combinatorial treatments for spinal muscular atrophy (SMA): effects on motoneuron survival, synaptic integrity, and skeletal muscle preservation
Universidad de Sevilla. Facultad de Medicina
Departamento de Fisiología Médica y Biofísica

Cantabria
SANTANDER
Preclinical analysis of new combinatorial treatments for spinal muscular atrophy (SMA): effects on motoneuron survival, synaptic integrity, and skeletal muscle preservation
IDIVAL: Instituto de Investigación Marqués de Valdecilla
Grupo de Biología Celular del Núcleo

Cataluña
BARCELONA
ArmTracker: a state-of-the-art wearable system to assess upper limb motor function in real-life conditions for patients with Duchenne muscular dystrophy and spinal muscular atrophy
Instituto de Robótica e Informática Industrial
Grupo de Percepción y Manipulación

Cataluña
BARCELONA
ArmTracker: a state-of-the-art wearable system to assess upper limb motor function in real-life conditions for patients with Duchenne muscular dystrophy and spinal muscular atrophy
Universitat Politècnica de Catalunya
BIO MEC: Laboratorio de Ingeniería Biomecánica

Cataluña
ESPLUGUES DE LLOBREGAT
ArmTracker: a state-of-the-art wearable system to assess upper limb motor function in real-life conditions for patients with Duchenne muscular dystrophy and spinal muscular atrophy
Hospital Sant Joan de Déu Barcelona
Unidad de Enfermedades Neuromusculares

Cataluña
LLEIDA
Analysis of the beneficial effects of calpain inhibitors treatment and combined therapies on Spinal Muscular Atrophy
Instituto de Investigación Biomédica de Lleida (IRBLLEIDA)
Unidad de señalización neuronal

Cataluña
LLEIDA
Preclinical analysis of new combinatorial treatments for spinal muscular atrophy (SMA): effects on motoneuron survival, synaptic integrity, and skeletal muscle preservation
Universitat de Lleida. Campus de Ciències de la Salut
Unidad de Neurología Celular

New York
NEW YORK
Étudier la base cellulaire et moléculaire des défauts musculaires dans l'Amyotrophie spinale
Columbia University Medical Center - Department of Neurology

Washington
ADDRESS: NOT PROVIDED - US
Alteration of the neuromodulatory pathways and their relationship with motor neuron hyperexcitability in Spinal Muscular Atrophy
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Molecular mediators of the spinal muscular atrophy NMJ phenotype
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Regulation of mitochondrial function and motor neuron degeneration in sma
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
An orally bioavailable drug candidate for spinal muscular atrophy
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Targeting a smn lncrna for the treatment of sma
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Targeting the ubiquitin proteasome system to treat spinal muscular atrophy
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Cajal body assembly mechanisms in vitro and in the context of neurodegenerative disease
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Survival motor neuron (smn) function in motoneuron development
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Rna-mediated mechanisms of motor system dysfunction in spinal muscular atrophy
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Evaluation of oxidative capacity and exercise tolerance in ambulatory patients with spinal muscular atrophy
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Protein-mediated membrane remodeling
Institution: Information not provided - US

ILE-DE-FRANCE
EVRY
Développement de thérapies combinatoires pour l'atrophie musculaire spinale
GENOPOLE - Campus 1
I-Stem - Institut des cellules Souches pour le Traitement et l'Etude des maladies Monogéniques

ILE-DE-FRANCE
PARIS
Déchiffrer les contributions respectives des macrophages et des microglies à la dégénérescence des motoneurones dans l'atrophie musculaire spinale et la sclérose latérale amyotrophique avec des dispositifs microfluidiques
Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
Equipe "Causes de la SLA et mécanismes de la dégénérescence motoneuronale"

OCCITANIE
MONTPELLIER
Profilage à l'échelle du génome des régions associées au corps nucléaire: relation avec la physiopathologie cellulaire de l'atrophie musculaire spinale
UMR5535 Institut de génétique moléculaire de Montpellier (IGMM)
Architecture Génomique et Contrôle Epigénétique

OCCITANIE
MONTPELLIER
Déterminer comment la traduction locale d'ARNm impacte les maladies neurodégénératives
UMR5535 Institut de génétique moléculaire de Montpellier (IGMM)
Assemblage et Trafic de Ribonucléoprotéines

OCCITANIE
MONTPELLIER
Définir de nouvelles fonctions pour le complexe SMN de la levure à l'homme
UMR5535 Institut de génétique moléculaire de Montpellier (IGMM)
Assemblage et Trafic de Ribonucléoprotéines

PROVENCE-ALPES-COTE D'AZUR
NICE
Reprogrammation directe in vivo et in vitro de cellules neuronales et somatiques en motoneurones cortico-spinaux
Université de Nice Sophia-Antipolis - Faculté des sciences
iBV - Institut de Biologie Valrose

PROVENCE-ALPES-COTE D'AZUR
VALBONNE
Développer des thérapies combinatoires pour le traitement de l'atrophie musculaire spinale
IPMC - Institut de Pharmacologie Moléculaire et Cellulaire
Physiopathologie des canaux Na+ et de l'excitabilité neuronale

ISRAEL
JERUSALEM
The motor neuron disease gene VRK1: a conditional VRK1 knockout mouse as a novel model for neuromuscular disease.
Shaare Zedek Medical Center
Shaare Zedek Institute of Medical Genetics

LAZIO
ROMA
In vitro and in vivo study of salbutamol a potential therapeutic agent for Spinal Muscular Atrophy
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
U.O.C. Genetica Medica

LOMBARDIA
MILANO
Genetic correction of human induced pluripotent stem cells from patients with proximal spinal muscular atrophy
Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico
Dipartimento di Scienze Neurologiche

TRENTINO ALTO ADIGE
TRENTO
Ribosome-based functions of the SMN protein: from fundamental biology to second-generation therapies for SMA - IT
Consiglio Nazionale delle Ricerche
Istituto di Biofisica

Lothian
EDINBURGH
Ribosome-based functions of the SMN protein: from fundamental biology to second-generation therapies for SMA - GB
The University of Edinburgh
Research and Innovation

Hamburg
HAMBURG
DySMA: Dysphagia in children with spinal muscular atrophy
UKE - Universitätsklinikum Hamburg-Eppendorf

Hamburg
HAMBURG
DySMA: Dysphagia in children with spinal muscular atrophy
UKE - Universitätsklinikum Hamburg-Eppendorf
Klinik und Poliklinik für Hör-, Stimm- und Sprachheilkunde (Phoniatrie und Pädaudiologie)

LOMBARDIA
PAVIA
Novel therapeutic strategies for Spinal Muscular Atrophy: testing the efficacy of cell-permeable peptides in preclinical models
Istituti Clinici Scientifici Maugeri IRCCS
Laboratorio di Ricerca sulle malattie Neurodegenerative

PIEMONTE
ORBASSANO
The role of SMN protein in translation: implications for Spinal Muscular Atrophy
Azienda Ospedaliero-Universitaria San Luigi Gonzaga
Neuroscience Institute Cavalieri Ottolenghi

TRENTINO ALTO ADIGE
TRENTO
The role of SMN protein in translation: implications for Spinal Muscular Atrophy
Consiglio Nazionale delle Ricerche
Istituto di Biofisica

AUVERGNE-RHONE-ALPES
LYON
Le collagène à matrice extracellulaire XV comme nouvel acteur du développement et de la régénération des axones moteurs: une étude fonctionnelle utilisant le poisson zèbre
Institut de Génomique Fonctionnelle de Lyon
Matrix Biology and Pathology, Managemant

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 -

Cataluña
BARCELONA
Igenco: In-Depth genomics and cross-omics analysis for undiagnosed rare diseases on a user-friendly collaborative platform
Centro de Regulación Genómica
Centro Nacional de Análisis Genómico

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

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

AUVERGNE-RHONE-ALPES
GRENOBLE
Identification précoce des exacerbations respiratoires à l'aide d'un dispositif de surveillance par VNI dans les troubles neuromusculaires à évolution lente
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
Métabolisme des acides aminés et épissage alternatif
ENS - Ecole normale supérieure de Lyon
Laboratoire de biologie et modélisation de la cellule - UMR5239

AUVERGNE-RHONE-ALPES
LYON
Etude de développement et de validation d'un module de complétion ludique digitalisé Mesure de la Fonction Motrice
Hospices Civils de Lyon

HAUTS-DE-FRANCE
ADDRESS: NOT PROVIDED - FR
Impact du volume inspiratoire pré-phonation sur la qualité de la parole des patients neuromusculaires nécessitant une ventilation non invasive
Institution: Information not provided - FR

HAUTS-DE-FRANCE
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

HAUTS-DE-FRANCE
ADDRESS: NOT PROVIDED - FR
Impact of blowpipe training on cough efficiency in neuromuscular patients : a prospective evaluation.
Institution: Information not provided - FR

HAUTS-DE-FRANCE
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

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
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
Asynchronie patient-ventilateur dans les maladies neuromusculaires : évaluation en situation réelle à l'aide des logiciels des appareils
CHU Paris IdF Ouest - Hôpital Raymond Poincaré
Service de Physiologie-Explorations Fonctionnelles - Consultations Troubles du sommeil

ILE-DE-FRANCE
GARCHES
Identification précoce des exacerbations respiratoires à l'aide d'un dispositif de surveillance par VNI dans les troubles neuromusculaires à évolution lente
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 : développement de médicaments à base de peptides pour cibler l'ataxine-2 dans les maladies neuromusculaires - 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
Modélisation et approches thérapeutiques pour les maladies rares
Université de médecine Aix-Marseille Université
Centre de Génétique de Marseille (Marseille Medical Genetics - MMG)

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE
Une plateforme d'IRM quantitative pour la quantification simultanée et automatique des temps d'infiltration graisseuse et de relaxation T2 dans les maladies neuromusculaires - 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
Réseau cellulaire gouvernant la stabilité de la jonction neuromusculaire
Sapienza Università di Roma
Università degli Studi di Roma "La Sapienza"

LAZIO
ROMA
Unraveling HSPB3 physiological functions to understand its implication in neuromuscular diseases
Sapienza Università di Roma - Dip. di Biologia e Biotecnologie Charles Darwin
Dipartimento di Biologia e Biotecnologie - Charles Darwin

Østlandet
OSLO
Cough augmentation with mechanical insufflation, exsufflation in children with neuromuscular disease and weak cough. A cross sectional study
Oslo University Hospital, Ullevaal
Oslo University Hospital, Ullevål

Zuid-Holland
LEIDEN
Understanding histopathological alterations in neuromuscular disorders by spatial transcriptomics
LUMC - Leids Universitair Medisch Centrum
Afdeling Humane Genetica

Tyne & Wear
NEWCASTLE UPON TYNE
Implementation of an artificial intelligence module on the web-based digital platform MyoShare for guiding the diagnosis of muscle diseases
University of Newcastle
John Walton Muscular Dystrophy Research Centre

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

Andalucía
SEVILLA
Development of bioinformatic tools for the automatic handling of secondary findings and their use in genetic and pharmacogenetic counseling
Fundación Progreso y Salud
Área de bioinformática clínica

Andalucía
SEVILLA
Development of a repository of genomic analysis workflows
Fundación Progreso y Salud
Área de bioinformática clínica

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

Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Clínic de Barcelona
Servicio de Inmunologia

Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari Vall d'Hebron
Laboratorio de Genética

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

Cataluña
ESPLUGUES DE LLOBREGAT
Federated network for functional genomics of undiagnosed and rare diseases, RareFunction
Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu
Grupo de Neurogenética y Medicina Molecular

Cataluña
ESPLUGUES DE LLOBREGAT
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Sant Joan de Déu Barcelona
Servicio de Laboratorio

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

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 Enfermedades raras, mitocondriales y neuromusculares

ILE-DE-FRANCE
PARIS
La surexpression du gène de la neuroglobine : un outil prometteur pour traiter un large spectre de troubles neurologiques grâce à sa capacité à préserver de manière sûre et durable l'intégrité mitochondriale
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
Projets de recherche multicentriques
- Universitätsklinikum Aachen
- Klinik für Neurologie
- Universitat de València. Facultat de Ciencies Biologiques
- Departamento de Genética
- CHU de Montpellier - Hôpital Saint-Eloi
- Institut des Neurosciences de Montpellier - INSERM U1051
- Consiglio Nazionale delle Ricerche
- Istituto di Biofisica
- Institut für Medizinische Genetik und angewandte Genomik Tübingen
- Institut für Medizinische Genetik und angewandte Genomik
- Charité / Max-Delbrück-Centrum für Molekulare Medizin
- Muskelforschung mit Hochschulambulanz für Muskelkrankheiten
- Stanford University School of Medicine
- Department of Genetics
- Faculté de médecine de Clermont-Ferrand
- Laboratoire de Génétique, Reproduction et Développement
- University of Tel-Aviv
- Dep. of Bio-Medical Engineering
- Azienda Ospedaliera di Padova
- Clinica Pediatrica

Nordrhein-Westfalen
AACHEN
Fly-SMALS: Common RNA-dependent pathways for motor neuron degeneration in spinocerebellar muscular atrophy and amyotrophic lateral sclerosis (DE)

Comunidad Valenciana
BURJASSOT
Development of combinatorial therapies for Spinal Muscular Atrophy

OCCITANIE
MONTPELLIER
FaSMALS: Common Pathogenic Pathways and Therapeutics for SMA and ALS motoneuron diseases

LIGURIA
GENOVA
Ribosome-based functions of the SMN protein: from fundamental biology to second-generation therapies for SMA

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

Berlin
BERLIN
EUROMUSCLENET: European information network on muscle diseases -terminated -

California
PALO ALTO
sPAM: Developing peptide-based drugs to target ataxin-2 in neuromuscular disease

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

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

VENETO
PADOVA