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Proyectos de investigación

Pre-clinical development of an AAV-mediated gene therapy for type-II SMA Généthon Centre de Recherche Généthon

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

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

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

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

Aproximación genómica en atrofia muscular espinal. (AME): estudio de casos especiales de pacientes con AME-5q Hospital Universitari Vall d'Hebron Área de Genética Clínica y Molecular

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

New Genomics Approaches in Neuromuscular Disorders: Applications in the Identification of New Disease Causing Genes and Mechanisms, of Revertant Somatic Mosaicism and in Undiagnosed Patients CHU Paris-Sud - Hôpital de Bicêtre Stéroïdes, neuroprotection et neurorégénération

Genome-wide profiling of nuclear-body associated regions: relation to cellular physiopathology of the spinal muscular atrophy disease UMR5535 Institut de génétique moléculaire de Montpellier (IGMM) Architecture Génomique et Contrôle Epigénétique

Defining new functions for the SMN complex from yeast to human UMR5535 Institut de génétique moléculaire de Montpellier (IGMM) Assemblage et Trafic de Ribonucléoprotéines

In vivo and in vitro direct lineage reprogramming of neuronal and somatic cells to corticospinal motor neurons Université de Nice Sophia-Antipolis - Faculté des sciences iBV - Institut de Biologie Valrose

Developing combinatorial therapies for the treatment of spinal muscular atrophy 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

Identification of new druggable targets and potential therapeutic compounds for Spinal Muscular Atrophy, using a C.elegans model of neurodegeneration Istituto di Genetica e Biofisica "Adriano Buzzati Traverso" - CNR Genetica Molecolare dei Nematodi

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

Dynamic distribution of Mib1 during mitosis of motor neuron progenitors derived from mouse ES cells Institution: Information not provided - FR

The extracellular matrix collagen XV as a new player of motor axon development and regeneration: a functional study using zebrafish 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 Peripheral Neuropathy Research Group

RAREGenomics: Red de Recursos Genómicos, Funcionales, Clínicos y Terapeúticos para el Estudio de las Enfermedades Raras Neurológicas Hospital Universitario Fundación Jiménez Díaz Servicio de Genética Clínica

Impact of pre-phonation inspiratory volume on speech quality of neuromuscular patients requiring non invasive ventilation 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

Collaborative program for a systematic, mecanistic and pharmacologic approach of rare neuromuscular diseases CHU de Lyon HCL - GH Est Centre de biotechnologie cellulaire

NMD-CHIP: design, production and technical validation of candidate genes targeted chips (WP3) Généthon Centre de Recherche Généthon

The role of Raptor/mTORC1 in adult skeletal muscle Venetian Institute of Molecular Medicine Dipartimento di Scienze Biomediche

TREAT-NMD: Accelerating Treatments for Neuromuscular Diseases (coordination) Newcastle upon Tyne Hospitals NHS Trust John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine

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

Desarrollo de algoritmos bioinformáticos basados en redes y biología de sistemas para la búsqueda de nuevos genes responsables de enfermedades raras de origen genético Fundación Jiménez Díaz Área de Genética y Genómica

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

STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy - FR Muséum National d'Histoire Naturelle Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196

FROGH : FRench Regional Origins in Genetics for Health - FR Institut de Recherche en Santé - Université de Nantes L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291

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

Management ofthe clinical diagnostic centre for rare intractable diseases with genome instability and development of potential therapeutic medicine Research Institute of Environmental Medicine, Nagoya University

Establishment of the Next-generation Muti-omics Clinical Diagnostic Centre for rare intractable diseases with genome instability Research Institute of Environmental Medicine, Nagoya University

Formation of integrated omics analysis base of refractory diseases in children and perinatal period National Center for Child Health and Development Research Institute

Proyectos de investigación multicéntricos

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

SEDUCE : Stem cells for drug screening targeting splices GENOPOLE - Campus 1 I-Stem - Institut des cellules Souches pour le Traitement et l'Etude des maladies Monogéniques

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

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

MYORES: European Muscle Development Network (FINISHED) Faculté de médecine de Clermont-Ferrand Laboratoire de Génétique, Reproduction et Développement

NMD-CHIP: development of targeted DNA-chips for high throughput diagnosis of neuromuscular disorders CHU de Marseille - Hôpital de la Timone Laboratoire de génétique moléculaire

TREAT-NMD: Accelerating Treatments for Neuromuscular Diseases (research) Newcastle upon Tyne Hospitals NHS Trust John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine

Maternal Infant Child and Youth Research Network (MICYRN) University of British Columbia Maternal Infant Child and Youth Research Network

CIEN: Fundación Centro de Investigación de Enfermedades Neurológicas Hospital Universitari de Bellvitge Unidad de Neuropatología

STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy Muséum National d'Histoire Naturelle Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196

FROGH : FRench Regional Origins in Genetics for Health Institut de Recherche en Santé - Université de Nantes L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291

UnRareNet: a muticenter collaborative research network for the identification and study of rare undiagnosed patients (completed) IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO Servizio Clinico di Consulenza Genetica

Pre-clinical development of an AAV-mediated gene therapy for type-II SMA
Généthon

Centre de Recherche Généthon

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

Abteilung für Neuropädiatrie

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

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

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

Faculty of Medicine -

Aproximación genómica en atrofia muscular espinal. (AME): estudio de casos especiales de pacientes con AME-5q
Hospital Universitari Vall d'Hebron

Área de Genética Clínica y Molecular

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

New Genomics Approaches in Neuromuscular Disorders: Applications in the Identification of New Disease Causing Genes and Mechanisms, of Revertant Somatic Mosaicism and in Undiagnosed Patients
CHU Paris-Sud - Hôpital de Bicêtre

Stéroïdes, neuroprotection et neurorégénération

Genome-wide profiling of nuclear-body associated regions: relation to cellular physiopathology of the spinal muscular atrophy disease
UMR5535 Institut de génétique moléculaire de Montpellier (IGMM)

Architecture Génomique et Contrôle Epigénétique

Defining new functions for the SMN complex from yeast to human
UMR5535 Institut de génétique moléculaire de Montpellier (IGMM)

Assemblage et Trafic de Ribonucléoprotéines

In vivo and in vitro direct lineage reprogramming of neuronal and somatic cells to corticospinal motor neurons
Université de Nice Sophia-Antipolis - Faculté des sciences

iBV - Institut de Biologie Valrose

Developing combinatorial therapies for the treatment of spinal muscular atrophy
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

Identification of new druggable targets and potential therapeutic compounds for Spinal Muscular Atrophy, using a C.elegans model of neurodegeneration
Istituto di Genetica e Biofisica "Adriano Buzzati Traverso" - CNR

Genetica Molecolare dei Nematodi

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

Dynamic distribution of Mib1 during mitosis of motor neuron progenitors derived from mouse ES cells
Institution: Information not provided - FR

The extracellular matrix collagen XV as a new player of motor axon development and regeneration: a functional study using zebrafish
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

Peripheral Neuropathy Research Group

RAREGenomics: Red de Recursos Genómicos, Funcionales, Clínicos y Terapeúticos para el Estudio de las Enfermedades Raras Neurológicas
Hospital Universitario Fundación Jiménez Díaz

Servicio de Genética Clínica

Impact of pre-phonation inspiratory volume on speech quality of neuromuscular patients requiring non invasive ventilation
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

Collaborative program for a systematic, mecanistic and pharmacologic approach of rare neuromuscular diseases
CHU de Lyon HCL - GH Est

Centre de biotechnologie cellulaire

NMD-CHIP: design, production and technical validation of candidate genes targeted chips (WP3)
Généthon

Centre de Recherche Généthon

The role of Raptor/mTORC1 in adult skeletal muscle
Venetian Institute of Molecular Medicine

Dipartimento di Scienze Biomediche

TREAT-NMD: Accelerating Treatments for Neuromuscular Diseases (coordination)
Newcastle upon Tyne Hospitals NHS Trust

John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine

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

Desarrollo de algoritmos bioinformáticos basados en redes y biología de sistemas para la búsqueda de nuevos genes responsables de enfermedades raras de origen genético
Fundación Jiménez Díaz

Área de Genética y Genómica

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

STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy - FR
Muséum National d'Histoire Naturelle

Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196

FROGH : FRench Regional Origins in Genetics for Health - FR
Institut de Recherche en Santé - Université de Nantes

L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291

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

Centro Nazionale Malattie Rare

Management ofthe clinical diagnostic centre for rare intractable diseases with genome instability and development of potential therapeutic medicine
Research Institute of Environmental Medicine, Nagoya University

Establishment of the Next-generation Muti-omics Clinical Diagnostic Centre for rare intractable diseases with genome instability
Research Institute of Environmental Medicine, Nagoya University

Formation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development

Research Institute

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

Universitätsklinikum Aachen

Klinik für Neurologie

SEDUCE : Stem cells for drug screening targeting splices

GENOPOLE - Campus 1

I-Stem - Institut des cellules Souches pour le Traitement et l'Etude des maladies Monogéniques

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

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

MYORES: European Muscle Development Network (FINISHED)

Faculté de médecine de Clermont-Ferrand

Laboratoire de Génétique, Reproduction et Développement

NMD-CHIP: development of targeted DNA-chips for high throughput diagnosis of neuromuscular disorders

CHU de Marseille - Hôpital de la Timone

Laboratoire de génétique moléculaire

TREAT-NMD: Accelerating Treatments for Neuromuscular Diseases (research)

Newcastle upon Tyne Hospitals NHS Trust

John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine

Maternal Infant Child and Youth Research Network (MICYRN)

University of British Columbia

Maternal Infant Child and Youth Research Network

CIEN: Fundación Centro de Investigación de Enfermedades Neurológicas

Hospital Universitari de Bellvitge

Unidad de Neuropatología

STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy

Muséum National d'Histoire Naturelle

Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196

FROGH : FRench Regional Origins in Genetics for Health

Institut de Recherche en Santé - Université de Nantes

L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291

UnRareNet: a muticenter collaborative research network for the identification and study of rare undiagnosed patients (completed)

IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO

Servizio Clinico di Consulenza Genetica