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TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy.
Spitali, Pietro; Zaharieva, Irina; Bohringer, Stefan; Hiller, Monika; Chaouch, Amina; Roos, Andreas; Scotton, Chiara; Claustres, Mireille; Bello, Luca; McDonald, Craig M; Hoffman, Eric P; Koeks, Zaida; Eka Suchiman, H; Cirak, Sebahattin; Scoto, Mariacristina; Reza, Mojgan; 't Hoen, Peter A C; Niks, Erik H; Tuffery-Giraud, Sylvie; Lochmüller, Hanns; Ferlini, Alessandra; Muntoni, Francesco; Aartsma-Rus, Annemieke.
Afiliação
  • Spitali P; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. p.spitali@lumc.nl.
  • Zaharieva I; Dubowitz Neuromuscular Centre, University College London Great Ormond Street Institute of Child Health, London, UK. i.zaharieva@ucl.ac.uk.
  • Bohringer S; Department of Medical Statistics, Leiden University Medical Center, Leiden, The Netherlands.
  • Hiller M; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Chaouch A; John Walton Muscular Dystrophy Research Centre, Newcastle University, Newcastle upon Tyne, UK.
  • Roos A; Greater Manchester Neuroscience Centre, Salford Royal Foundation Trust, Salford, UK.
  • Scotton C; John Walton Muscular Dystrophy Research Centre, Newcastle University, Newcastle upon Tyne, UK.
  • Claustres M; Department of Medical Sciences, Section of Microbiology and Medical Genetics, University of Ferrara, Ferrara, Italy.
  • Bello L; Laboratory of Genetics of Rare Diseases (LGMR - EA7402), University of Montpellier, Montpellier, France.
  • McDonald CM; Center for Genetic Medicine Research, Children's National Medical Center, Washington, DC, USA.
  • Hoffman EP; Department of Neuroscience, University of Padova, Padova, Italy.
  • Koeks Z; Center for Genetic Medicine Research, Children's National Medical Center, Washington, DC, USA.
  • Cirak S; Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands.
  • Scoto M; Department of Molecular Epidemiology, Leiden University Medical Center, Leiden, The Netherlands.
  • Reza M; Dubowitz Neuromuscular Centre, University College London Great Ormond Street Institute of Child Health, London, UK.
  • 't Hoen PAC; Department of Pediatrics, University Hospital Cologne, Cologne, Germany.
  • Niks EH; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany.
  • Tuffery-Giraud S; Dubowitz Neuromuscular Centre, University College London Great Ormond Street Institute of Child Health, London, UK.
  • Lochmüller H; John Walton Muscular Dystrophy Research Centre, Newcastle University, Newcastle upon Tyne, UK.
  • Ferlini A; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Muntoni F; Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands.
  • Aartsma-Rus A; Laboratory of Genetics of Rare Diseases (LGMR - EA7402), University of Montpellier, Montpellier, France.
Eur J Hum Genet ; 28(6): 815-825, 2020 06.
Article em En | MEDLINE | ID: mdl-31896777

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Distrofia Muscular de Duchenne / Genes Modificadores Tipo de estudo: Prognostic_studies Limite: Adolescent / Child / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Distrofia Muscular de Duchenne / Genes Modificadores Tipo de estudo: Prognostic_studies Limite: Adolescent / Child / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article