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Projets de recherche

SMArtCARE : Clinical evaluation and monitoring of patients with spinal muscular atrophy Universitäts-Kinderklinik Bonn Abteilung Neuropädiatrie und SPZ

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

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

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

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

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

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

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

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

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

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

Analysis of the beneficial effects of calpain inhibitors treatment and combined therapies on Spinal Muscular Atrophy Instituto de Investigación Biomédica de Lleida (IRBLLEIDA) Instituto de Investigación Biomédica de Lleida - IRBLLEIDA

Search for biomarkers of response to treatment in patients with spinal muscular atrophy IIS La Fe - Instituto de Investigación Sanitaria La Fe Grupo de investigación en biomedicina molecular, celular y genómica

Evaluation of CRISPR-dCas13 system as a precision medicine approach for neurodegenerative disorders: in vitro studies and in an animal model of Spinal Muscular Atrophy (SMA) Instituto de Investigación Sanitaria Biodonostia Área de Neurociencias

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

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

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

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

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

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

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

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

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

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

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

Protein-mediated membrane remodeling Institution: Information not provided - US

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Inhibition of HDAC6 as Therapeutic Strategy in Neuromuscular Diseases University of Ottawa Faculty of Medicine -

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

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

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

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

Impact of the type of interface in neuromuscular patients treated with nocturnal Noninvasive Ventilation: a randomized crossover trial Institution: Information not provided - FR

Impact of blowpipe training on cough efficiency in neuromuscular patients : a prospective evaluation. Institution: Information 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

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

Interplay between cell metabolism and alternative splicing ENS - Ecole normale supérieure de Lyon Laboratoire de biologie et modélisation de la cellule - UMR5239

Métabolisme des acides aminés et épissage alternatif ENS - Ecole normale supérieure de Lyon Laboratoire de biologie et modélisation de la cellule - UMR5239

Etude de développement et de validation d'un module de complétion ludique digitalisé Mesure de la Fonction Motrice Hospices Civils de Lyon

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"

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

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

Nuclear genetic suppressors in yeast models of mtDNA mutations associated to neuromuscular diseases Institut National de la Santé et de la Recherche Médicale

ExoMS: a 3D printed exoskeleton with springs to enhance upper limb mobility of children with neuromuscular disease CHU de Nantes CHU Nantes

New modulators of the skeletal and cardiac ryanodine receptors CHU de Nantes CHU Nantes

Modélisation et approches thérapeutiques pour les maladies rares Université de médecine Aix-Marseille Université Centre de Génétique de Marseille (Marseille Medical Genetics - MMG)

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

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

Réseau cellulaire gouvernant la stabilité de la jonction neuromusculaire Sapienza Università di Roma Università degli Studi di Roma "La Sapienza"

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

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

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

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

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

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

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases Hospital de la Santa Creu i Sant Pau Servicio de Genética

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases Hospital Universitari de Bellvitge Unidad de Genética Molecular

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

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

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

Fly-SMALS: Common RNA-dependent pathways for motor neuron degeneration in spinocerebellar muscular atrophy and amyotrophic lateral sclerosis (DE) Universitätsklinikum Aachen Klinik für Neurologie

Development of combinatorial therapies for Spinal Muscular Atrophy Universitat de València. Facultat de Ciencies Biologiques Departamento de Genética

SMArtCARE : Clinical evaluation and monitoring of patients with spinal muscular atrophy
Universitäts-Kinderklinik Bonn

Abteilung Neuropädiatrie und SPZ

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

HRQoL SMA: Health-related quality of life of patients with spinal muscular atrophy
Universitätsklinikum des Saarlandes

Klinik für Allgemeine Pädiatrie und Neonatologie

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

Regenerative Medicine

The molecular pathogenesis of spinal muscular atrophy
Ottawa Hospital Research Institute

Regenerative Medicine

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

SMN and Post-transcriptional Regulation in Motor Neurons: Implications for Spinal Muscular Atrophy
University of Ottawa

Faculty of Medicine -

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

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

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

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

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

Instituto de Investigación Biomédica de Lleida - IRBLLEIDA

Search for biomarkers of response to treatment in patients with spinal muscular atrophy
IIS La Fe - Instituto de Investigación Sanitaria La Fe

Grupo de investigación en biomedicina molecular, celular y genómica

Evaluation of CRISPR-dCas13 system as a precision medicine approach for neurodegenerative disorders: in vitro studies and in an animal model of Spinal Muscular Atrophy (SMA)
Instituto de Investigación Sanitaria Biodonostia

Área de Neurociencias

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

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

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

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

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

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

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

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

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

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

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

Protein-mediated membrane remodeling
Institution: Information not provided - US

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

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

Déterminer comment la traduction locale d'ARNm impacte les maladies neurodégénératives
UMR5535 Institut de génétique moléculaire de Montpellier (IGMM)

Assemblage et Trafic de Ribonucléoprotéines

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

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

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

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

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

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

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

Research and Innovation

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

The role of SMN protein in translation: implications for Spinal Muscular Atrophy
Azienda Ospedaliero-Universitaria San Luigi Gonzaga

Neuroscience Institute Cavalieri Ottolenghi

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

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

Inhibition of HDAC6 as Therapeutic Strategy in Neuromuscular Diseases
University of Ottawa

Faculty of Medicine -

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

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

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

Department of Genetics

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

Impact of the type of interface in neuromuscular patients treated with nocturnal Noninvasive Ventilation: a randomized crossover trial
Institution: Information not provided - FR

Impact of blowpipe training on cough efficiency in neuromuscular patients : a prospective evaluation.
Institution: Information 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

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

Interplay between cell metabolism and alternative splicing
ENS - Ecole normale supérieure de Lyon

Laboratoire de biologie et modélisation de la cellule - UMR5239

Métabolisme des acides aminés et épissage alternatif
ENS - Ecole normale supérieure de Lyon

Laboratoire de biologie et modélisation de la cellule - UMR5239

Etude de développement et de validation d'un module de complétion ludique digitalisé Mesure de la Fonction Motrice
Hospices Civils de Lyon

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"

An integrated translational program for neuromuscular disorders
Hôpitaux Universitaires Henri Mondor

Centre expert de maladie neuro-musculaire

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

Nuclear genetic suppressors in yeast models of mtDNA mutations associated to neuromuscular diseases
Institut National de la Santé et de la Recherche Médicale

ExoMS: a 3D printed exoskeleton with springs to enhance upper limb mobility of children with neuromuscular disease
CHU de Nantes

CHU Nantes

New modulators of the skeletal and cardiac ryanodine receptors
CHU de Nantes

CHU Nantes

Modélisation et approches thérapeutiques pour les maladies rares
Université de médecine Aix-Marseille Université

Centre de Génétique de Marseille (Marseille Medical Genetics - MMG)

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

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

Réseau cellulaire gouvernant la stabilité de la jonction neuromusculaire
Sapienza Università di Roma

Università degli Studi di Roma "La Sapienza"

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

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

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

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

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

Servicio de Inmunologia

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari Vall d'Hebron

Laboratorio de Genética

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital de la Santa Creu i Sant Pau

Servicio de Genética

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari de Bellvitge

Unidad de Genética Molecular

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

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

Diverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanità

Centro Nazionale Malattie Rare

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

Universitätsklinikum Aachen

Klinik für Neurologie

Development of combinatorial therapies for Spinal Muscular Atrophy

Universitat de València. Facultat de Ciencies Biologiques

Departamento de Genética

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

CHU de Montpellier - Hôpital Saint-Eloi

Institut des Neurosciences de Montpellier - INSERM U1051

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

Consiglio Nazionale delle Ricerche

Istituto di Biofisica

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

Institut für Medizinische Genetik und angewandte Genomik Tübingen

Institut für Medizinische Genetik und angewandte Genomik

EUROMUSCLENET: European information network on muscle diseases -terminated -

Charité / Max-Delbrück-Centrum für Molekulare Medizin

Muskelforschung mit Hochschulambulanz für Muskelkrankheiten

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

Stanford University School of Medicine

Department of Genetics