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Proyectos de investigación

Molecular consequences of X-linked myotubular myopathy on the transcriptome and the epigenome of canine skeletal muscles and human myotubes derived from induced pluripotent stem cells Institution: Information not provided - US

Comparative study between MTM1 and MTMR2 myotubularins responsible for X-linked centronuclear myopathy or Charcot-Marie-Tooth neuropathy Institution: Information not provided - FR

Phosphoinositide-dependent regulation of mTORC1 in skeletal muscle: molecular insights and involvement in myotubular myopathy Institution: Information not provided - FR

Study of two neuromuscular diseases due to mutations in myotubularins MTM1 or MTMR2 by using yeast, cell lines and mice models Génétique Moléculaire Génomique Microbiologie - GMGM Trafic membranaire et signalisation lipidique

Molecular functions of MTM1-related phosphoinositides in X-linked centronuclear myopathy (XLCNM) pathophysiology Institut National de la Santé et de la Recherche Médicale

Pre-clinical evaluation of tamoxifen in mouse models of X-linked centronuclear myopathy and other severe muscular diseases Institution: Information not provided - IT

MTM1-UBQLN2 involvement in proteostasis networks controlling muscle fiber mass Institution: Information not provided - FR

Pathophysiology and therapeutic proof-of-concepts for congenital myopathies Institut de génétique et de biologie moléculaire et cellulaire - IGBMC Département Médecine translationnelle et neurogénétique

Dynamin 2 expression modulation therapy Institut de Myologie - Hôpital Pitié-Salpêtrière Centre de Recherche en Myologie

Clinical exome sequencing for molecular diagnosis of polymalformative syndromes CIUSSS de l'Estrie - CHUS Fleurimont Service de génétique médicale

Modeling the heterogeneity of tropomyosin-related congenital myopathies Boston Children's Hospital

Investigating heterogeneities and morphogenesis of cranial mesoderm derived skeletal muscles Institut Pasteur CELL & DEVELOPMENTAL BIOLOGY

Nav1.4 activators for a correction of SCN4A-related muscle weaknesses Université de Nantes L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291

Clinical morphological and molecular study of italian patients with congenital myopathy Università degli Studi di Pavia Dipartimento di Genetica e Microbiologia

Contribución de la carga de variantes raras en los trastornos psiquiátricos en una población infanto-adolescente con funcionamiento intelectual límite/discapacidad intelectual leve Corporación Sanitaria Parc Taulí Laboratorio de Genética de la UDIAT-CD

Characterization of 3D chromatin architecture disruption in chromosomal rearrangements to identify candidate genes in neurodevelopmental disorders Faculté de Médecine Lyon Est Institut NeuroMyoGène (INMG) - CNRS UMR 5310 / INSERM U1217

Help configurations and employment situations for caregivers. The case of children with rare diseases with intellectual disability. A pilot study Université de Bourgogne - Bâtiment B3 Laboratoire d'Economie de Dijon (LEDi)

iGenCO: análisis genómico exhaustivo y análisis cross-ómico para enfermedades minoritarias no diagnosticadas en una plataforma colaborativa amigable ISGlobal - Instituto de Salud Global de Barcelona Programa de investigación en Enfermedades no transmisibles y medio ambiente

IDOLS-G: Improved diagnostic output in large sarcomeric genes - ES Vall d'Hebron Institut de Recerca VHIR Grupo de investigación en neurología pediátrica

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

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

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

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

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

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

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

IDOLS-G: Improved diagnostic output in large sarcomeric genes - IT Università degli Studi di Firenze Dipartimento di Biologia

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

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

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

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 -

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

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

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

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

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

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

Amino acid metabolism and alternative splicing ENS - Ecole normale supérieure de Lyon Laboratoire de biologie et modélisation de la cellule - UMR5239

Development and validation study of a Motor Function Measure digitalized playful completion modules 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

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

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

Collaborative program for a systematic, mecanistic and pharmacologic approach of rare neuromuscular diseases Institut de Myologie - Hôpital Pitié-Salpêtrière Centre de Recherche en Myologie

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"

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

Modelisation and Therapeutic Approaches for Rare Diseases Université de médecine Aix-Marseille Université Centre de Génétique de Marseille (Marseille Medical Genetics - MMG)

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

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

Cellular network driving neuromuscular junction stability 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

Proyectos de investigación multicéntricos

TREAT-MTMs: Novel therapies for neuromuscular diseases with altered phosphoinositide metabolism Institution: Information not provided - CA

MTMPathies2 : MTM1 and MTMR2 myotubularins: biochemical activity and the regulation of membrane trafficking in health and disease IRCCS Ospedale San Raffaele Istituto di Neurologia Sperimentale - Unità di Ricerca per la Clinica Pediatrica

MTMPATHIES: myotubularinopathies: common molecular mechanism and tissue specificity Institut de génétique et de biologie moléculaire et cellulaire - IGBMC Département Médecine translationnelle et neurogénétique

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

CHERISH: improving diagnoses of mental retardation in children in Central Eastern Europe and Central Asia through genetic characterisation and bioinformatics/biostatistics A.O.U. Policlinico "G. Martino" U.O. di Neuropsichiatria Infantile - Dipartimento di Scienze Pediatriche

GENCODYS: Genetic and Epigenetic Networks in Cognitive Dysfunction (Terminated) Radboudumc - Radboud universitair medisch centrum Afdeling Genetica

IDOLS-G: Improved diagnostic output in large sarcomeric genes TAYS - Tampere University Hospital Neuromuscular Center

Brains for brain: research group of the European task force on brain and neurodegenerative lysosomal storage diseases Azienda Ospedaliera di Padova Clinica Pediatrica

NEUROXSYS: genomic regulatory systems of human X-linked neurological diseases Haukeland University Hospital

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

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

A quantitative MRI platform for simultaneous and automatic quantification of fat infiltration and T2 relaxation times in neuromuscular disorders University of Tel-Aviv Dep. of Bio-Medical Engineering

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

Molecular consequences of X-linked myotubular myopathy on the transcriptome and the epigenome of canine skeletal muscles and human myotubes derived from induced pluripotent stem cells
Institution: Information not provided - US

Comparative study between MTM1 and MTMR2 myotubularins responsible for X-linked centronuclear myopathy or Charcot-Marie-Tooth neuropathy
Institution: Information not provided - FR

Phosphoinositide-dependent regulation of mTORC1 in skeletal muscle: molecular insights and involvement in myotubular myopathy
Institution: Information not provided - FR

Study of two neuromuscular diseases due to mutations in myotubularins MTM1 or MTMR2 by using yeast, cell lines and mice models
Génétique Moléculaire Génomique Microbiologie - GMGM

Trafic membranaire et signalisation lipidique

Molecular functions of MTM1-related phosphoinositides in X-linked centronuclear myopathy (XLCNM) pathophysiology
Institut National de la Santé et de la Recherche Médicale

Pre-clinical evaluation of tamoxifen in mouse models of X-linked centronuclear myopathy and other severe muscular diseases
Institution: Information not provided - IT

MTM1-UBQLN2 involvement in proteostasis networks controlling muscle fiber mass
Institution: Information not provided - FR

Pathophysiology and therapeutic proof-of-concepts for congenital myopathies
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC

Département Médecine translationnelle et neurogénétique

Dynamin 2 expression modulation therapy
Institut de Myologie - Hôpital Pitié-Salpêtrière

Centre de Recherche en Myologie

Clinical exome sequencing for molecular diagnosis of polymalformative syndromes
CIUSSS de l'Estrie - CHUS Fleurimont

Service de génétique médicale

Modeling the heterogeneity of tropomyosin-related congenital myopathies
Boston Children's Hospital

Investigating heterogeneities and morphogenesis of cranial mesoderm derived skeletal muscles
Institut Pasteur

CELL & DEVELOPMENTAL BIOLOGY

Nav1.4 activators for a correction of SCN4A-related muscle weaknesses
Université de Nantes

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

Clinical morphological and molecular study of italian patients with congenital myopathy
Università degli Studi di Pavia

Dipartimento di Genetica e Microbiologia

Contribución de la carga de variantes raras en los trastornos psiquiátricos en una población infanto-adolescente con funcionamiento intelectual límite/discapacidad intelectual leve
Corporación Sanitaria Parc Taulí

Laboratorio de Genética de la UDIAT-CD

Characterization of 3D chromatin architecture disruption in chromosomal rearrangements to identify candidate genes in neurodevelopmental disorders
Faculté de Médecine Lyon Est

Institut NeuroMyoGène (INMG) - CNRS UMR 5310 / INSERM U1217

Help configurations and employment situations for caregivers. The case of children with rare diseases with intellectual disability. A pilot study
Université de Bourgogne - Bâtiment B3

Laboratoire d'Economie de Dijon (LEDi)

iGenCO: análisis genómico exhaustivo y análisis cross-ómico para enfermedades minoritarias no diagnosticadas en una plataforma colaborativa amigable
ISGlobal - Instituto de Salud Global de Barcelona

Programa de investigación en Enfermedades no transmisibles y medio ambiente

IDOLS-G: Improved diagnostic output in large sarcomeric genes - ES
Vall d'Hebron Institut de Recerca VHIR

Grupo de investigación en neurología pediátrica

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

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

Department of Clinical Genetics

IDOLS-G: Improved diagnostic output in large sarcomeric genes -FI
Folkhälsan

Folkhälsan Research Center

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

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

IDOLS-G: Improved diagnostic output in large sarcomeric genes - HU
Semmelweis University

Department of Biophysics and Radiation Biology

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

Centro Nazionale Malattie Rare

IDOLS-G: Improved diagnostic output in large sarcomeric genes - IT
Università degli Studi di Firenze

Dipartimento di Biologia

IDOLS-G: Improved diagnostic output in large sarcomeric genes - NL
Amsterdam UMC, locatie VUmc

Afdeling Fysiologie

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

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

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 -

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

Department of Genetics

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

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

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

Centre de biotechnologie cellulaire

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

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

Laboratoire de biologie et modélisation de la cellule - UMR5239

Amino acid metabolism and alternative splicing
ENS - Ecole normale supérieure de Lyon

Laboratoire de biologie et modélisation de la cellule - UMR5239

Development and validation study of a Motor Function Measure digitalized playful completion modules
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

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

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

Collaborative program for a systematic, mecanistic and pharmacologic approach of rare neuromuscular diseases
Institut de Myologie - Hôpital Pitié-Salpêtrière

Centre de Recherche en Myologie

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"

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

Modelisation and Therapeutic Approaches for Rare Diseases
Université de médecine Aix-Marseille Université

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

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

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

Cellular network driving neuromuscular junction stability
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

TREAT-MTMs: Novel therapies for neuromuscular diseases with altered phosphoinositide metabolism

Institution: Information not provided - CA

MTMPathies2 : MTM1 and MTMR2 myotubularins: biochemical activity and the regulation of membrane trafficking in health and disease

IRCCS Ospedale San Raffaele

Istituto di Neurologia Sperimentale - Unità di Ricerca per la Clinica Pediatrica

MTMPATHIES: myotubularinopathies: common molecular mechanism and tissue specificity

Institut de génétique et de biologie moléculaire et cellulaire - IGBMC

Département Médecine translationnelle et neurogénétique

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

CHERISH: improving diagnoses of mental retardation in children in Central Eastern Europe and Central Asia through genetic characterisation and bioinformatics/biostatistics

A.O.U. Policlinico "G. Martino"

U.O. di Neuropsichiatria Infantile - Dipartimento di Scienze Pediatriche

GENCODYS: Genetic and Epigenetic Networks in Cognitive Dysfunction (Terminated)

Radboudumc - Radboud universitair medisch centrum

Afdeling Genetica

IDOLS-G: Improved diagnostic output in large sarcomeric genes

TAYS - Tampere University Hospital

Neuromuscular Center

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

Azienda Ospedaliera di Padova

Clinica Pediatrica

NEUROXSYS: genomic regulatory systems of human X-linked neurological diseases

Haukeland University Hospital

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

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

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

University of Tel-Aviv

Dep. of Bio-Medical Engineering

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

Newcastle upon Tyne Hospitals NHS Trust

John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine