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89 Resultado(s)

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Financiado por um membro do IRDiRC =

Projetos de investigação

ALEMANHA

Baden-Württemberg
HEIDELBERG

ALEMANHA

Bayern
ERLANGEN

Neuromuscular endplate pathology in autosomal dominant and recessive desminopathies
Universitätsklinikum Erlangen - Kopfkliniken
Neuropathologisches Institut

BELGICA

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

'CURE-DM1': In vivo CRISPR/Cas9-mediated correction of triplet nucleotide repeat expansion in DM1
VUB_ Vrije Universiteit Brussel, Campus Jette
Department of Gene Therapy and Regenerative Medicine

BELGICA

VLAAMS BRABANT
HEVERLEE (LEUVEN)

"3DMyoDM1": A novel human 3D in-vitro disease model for DM1
Laboratory of Bioengineering and Morphogenesis, KU Leuven
Laboratory of Bioengineering and Morphogenesis

CANADA

Québec
ADDRESS: NOT PROVIDED - CA

CANADA

Québec
ADDRESS: NOT PROVIDED - CA

CANADA

Québec
JONQUIÈRE

Financiado por um membro do IRDiRCMotor, multisystemic and social participation assessment in myotonic dystrophy type 1 : a 9-year longitudinal study
CSSS - Centre de santé et de services sociaux de Jonquière
Centre de réadaptation Le Parcours

CANADA

Québec
QUÉBEC

Development of a treatment for Friedreich ataxia based on the administration of a TALE driving the expression of frataxin.
CHUQ - (CHUL) Centre hospitalier de l'Université Laval
Laboratoire de Génétique Humaine

CHIPRE

Cyprus
ADDRESS: NOT PROVIDED - CY

Financiado por um membro do IRDiRCLNA/2'OMe mixmers against toxic CUG expanded RNA
Institution: Information not provided - CY

ESPANHA

Cataluña
BADALONA

Financiado por um membro do IRDiRCDIMINUTES, Childhood and adult myotonic dystrophy: evaluation of new treatments and pathogenicity through genetic, epigenetic and molecular imaging analysis
Fundació Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol
Unidad de Investigación Neuromuscular y Neuropediátrica

ESPANHA

Comunidad Valenciana
VALENCIA

Financiado por um membro do IRDiRCTherapeutic modulation of MBNL genes as innovative treatments for myotonic dystrophy
INCLIVA - Facultad de Medicina de la Universidad de Valencia
Grupo de Genómica Traslacional

ESPANHA

Comunidad Valenciana
VALENCIA

Phosphodiesterase inhibitors as a treatment for Friedreich's ataxia
Universitat de València. Facultat de Medicina i Odontologia
Grupo de investigación en Fisiopatología celular y orgánica del estrés oxidativo y las enfermedades raras

ESPANHA

Comunidad Valenciana
VALENCIA

Molecular mechanisms in the development of scoliosis in limb-girdle muscular dystrophies
Universitat de València. Facultat de Medicina i Odontologia
Departamento de Bioquímica y Biología Molecular

ESTADOS UNIDOS

South Dakota
SOUTH DAKOTA

Financiado por um membro do IRDiRCAberrant mitochondrial redox regulation in Friedreich's Ataxia
Sanford Research/University of South Dakota
VITIELLO LAB- Depatment of Pediatrics

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCRna toxicity and muscle regeneration
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCEpigenetic mechanisms regulating the igf2/h19 and kcnq1 locus
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCMammalian iron-sulfur cluster biogenesis
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCOpposing pathways in mammalian sex determination
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

Financiado por um membro do IRDiRCVenous thromboembolism in myotonic dystrophy type 1
Institution: Information not provided - FR

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCA

AUVERGNE-RHONE-ALPES
PRAGUE

Financiado por um membro do IRDiRCPreclinical assessment of clinic ready agents for the treatment of muscular dystrophy and spinal muscular atrophy
Faculty of Medicine and University Hospital Motol
Department of Pediatrics

FRANCA

ILE-DE-FRANCE
EVRY

FRANCA

ILE-DE-FRANCE
EVRY

Pathological modelling of Steinert Myotrophy using human embryonic stem cells carrying the causal mutation
GENOPOLE - Campus 1
I-Stem - Institut des cellules Souches pour le Traitement et l'Etude des maladies Monogéniques

FRANCA

ILE-DE-FRANCE
EVRY

FRANCA

ILE-DE-FRANCE
PARIS

Multidisciplinary Observational Study of Patients With Friedreich Ataxia
CHU Paris - Hôpital Robert Debré
Neurologie pédiatrique et maladies métaboliques

FRANCA

ILE-DE-FRANCE
PARIS

Financiado por um membro do IRDiRCDM1 disease mechanisms in the central nervous system: from brain cell-specific pathogenesis to misregulated glutamate homeostasis
Centre de Psychiatrie et Neurosciences
Neurobiologie du vieillissement normal et pathologique

FRANCA

ILE-DE-FRANCE
PARIS

Financiado por um membro do IRDiRCGene therapy in DM1 cells by induction of a TALE Nuclease
Hôpital Necker-Enfants Malades
Service de Génétique Moléculaire

FRANCA

ILE-DE-FRANCE
PARIS

Financiado por um membro do IRDiRCDM_Neuroglia : RNA toxicity and neuroglial miscommunication in myotonic dystrophy brains - FR
IMAGINE - Institut des Maladies Génétiques
Equipe "Triplets CTG instables et dystrophie myotonique"

FRANCA

ILE-DE-FRANCE
PARIS

Financiado por um membro do IRDiRCHow to contract CAG.CTG repeats in myotonic dystrophy type 1
IMAGINE - Institut des Maladies Génétiques
Laboratoire "Triplets CTG instables et dystrophie myotonique"

FRANCA

ILE-DE-FRANCE
PARIS

FRANCA

OCCITANIE
MONTPELLIER

FRANCA

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Synthetic biology and Friedreich's Ataxia
CNRS Campus Joseph Aiguier
Laboratoire de Chimie Bactérienne (LCB) - UMR 7283

FRANCA

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Financiado por um membro do IRDiRCFRACOL: Synthetic biology to approach Friedreich ataxia - FR
CNRS Campus Joseph Aiguier
Laboratoire de Chimie Bactérienne (LCB) - UMR 7283

ITALIA

LAZIO
ROMA

Financiado por um membro do IRDiRCClinical efficacy of NIV and modafinil on excessive daytime sleepiness: a multicenter, randomized, double-blind, placebo-controlled clinical trial in DM1
A.O.U. Policlinico di Tor Vergata - Facoltà di Medicina e Chirurgia
Dipartimento di Medicina dei Sistemi

ITALIA

LAZIO
ROMA

Clinical and molecular characterization of genetic syndromes with congenital heart disease
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
U.O.C. Laboratorio di Genetica Medica

ITALIA

LAZIO
ROMA

Molecular determinants of neurodegenerative diseases
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
Unità di Malattie Neuromuscolari e Neurodegenerative - Laboratorio di Medicina Molecolare

ITALIA

LOMBARDIA
CUSANO MILANINO

ITALIA

LOMBARDIA
MILANO

Financiado por um membro do IRDiRCClinical efficacy of NIV and modafinil on excessive daytime sleepiness: a multicenter, randomized, double-blind, placebo-controlled clinical trial in DM1
ASST Grande Ospedale Metropolitano Niguarda
Centro Clinico Nemo - sede di Milano - Centro ad alta specializzazione per le malattie neuromuscolari

JAPAO

JAPAN
MIYAGI

Financiado por um membro do IRDiRCPathogenesis and novel therapeutic approarches in RASoapthies
Tohoku University School of Medicine
Department of Medical Genetics

JAPAO

JAPAN
OSAKA

Financiado por um membro do IRDiRCEvidence-generating clinical research for myotonic dystrophy
Osaka University Graduate School of Medicine
Department of Functional Diagnostic Science

SUECIA

Stockholms läns landsting
HUDDINGE

The functional organisation of the brain
Karolinska Institutet - Huddinge
Department of Clinical Neuroscience

SUECIA

Västerbottens läns landsting
UMEÅ

ESPANHA

Madrid
MADRID

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCA

ILE-DE-FRANCE
PARIS

Financiado por um membro do IRDiRCPredictive genetic testing in hereditary cardiac diseases: Evaluation of psycho-social impact and multidisciplinary management
APHP.Sorbonne Université, Hôpital de la Pitié-Salpêtrière
Départements de génétique et de cardiologie - Centre de référence des maladies cardiaques héréditaires

FRANCA

ILE-DE-FRANCE
PARIS

JAPAO

JAPAN
TOKYO

Financiado por um membro do IRDiRCDevelopment of novel disease-causing gene based therapies for cardiomyopathies
Tokyo Medical and Dental University Medical Research Institute

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

Financiado por um membro do IRDiRCMechanosensitive ionic channels in zebrafish heart regeneration
Institution: Information not provided - FR

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCA

ILE-DE-FRANCE
PARIS

Financiado por um membro do IRDiRCSTaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy - FR
Muséum National d'Histoire Naturelle
Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196

FRANCA

PAYS DE LA LOIRE
NANTES

Financiado por um membro do IRDiRCFROGH : 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

JAPAO

JAPAN
TOKYO

Financiado por um membro do IRDiRCFormation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute

Projetos de investigação multicêntricos