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Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy.
Sullivan, Jeremy M; Motley, William W; Johnson, Janel O; Aisenberg, William H; Marshall, Katherine L; Barwick, Katy Es; Kong, Lingling; Huh, Jennifer S; Saavedra-Rivera, Pamela C; McEntagart, Meriel M; Marion, Marie-Helene; Hicklin, Lucy A; Modarres, Hamid; Baple, Emma L; Farah, Mohamed H; Zuberi, Aamir R; Lutz, Cathleen M; Gaudet, Rachelle; Traynor, Bryan J; Crosby, Andrew H; Sumner, Charlotte J.
Afiliação
  • Sullivan JM; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
  • Motley WW; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
  • Johnson JO; Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, Maryland, USA.
  • Aisenberg WH; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
  • Marshall KL; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
  • Barwick KE; RILD Wellcome Wolfson Centre, Royal Devon and Exeter NHS Foundation Trust, Exeter, Devon, United Kingdom.
  • Kong L; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
  • Huh JS; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
  • Saavedra-Rivera PC; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
  • McEntagart MM; Medical Genetics, Clinical Developmental Sciences, St. George's University of London, London, United Kingdom.
  • Marion MH; Department of Neurology and.
  • Hicklin LA; Department of Ears, Nose and Throat (ENT), St. George's Hospital, London, United Kingdom.
  • Modarres H; Department of Neurology and.
  • Baple EL; RILD Wellcome Wolfson Centre, Royal Devon and Exeter NHS Foundation Trust, Exeter, Devon, United Kingdom.
  • Farah MH; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
  • Zuberi AR; Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
  • Lutz CM; Genetic Resource Science, The Jackson Laboratory, Bar Harbor, Maine, USA.
  • Gaudet R; Genetic Resource Science, The Jackson Laboratory, Bar Harbor, Maine, USA.
  • Traynor BJ; Department of Molecular and Cellular Biology, Harvard University, Cambridge, Massachusetts, USA.
  • Crosby AH; Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, Maryland, USA.
  • Sumner CJ; Brain Sciences Institute, Department of Neurology, Johns Hopkins Hospital, Baltimore, Maryland, USA.
J Clin Invest ; 130(3): 1506-1512, 2020 03 02.
Article em En | MEDLINE | ID: mdl-32065591
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Transdução de Sinais / Doença de Charcot-Marie-Tooth / Mutação de Sentido Incorreto / Proteína Jagged-1 / Genes Dominantes Tipo de estudo: Prognostic_studies Limite: Animals / Female / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Transdução de Sinais / Doença de Charcot-Marie-Tooth / Mutação de Sentido Incorreto / Proteína Jagged-1 / Genes Dominantes Tipo de estudo: Prognostic_studies Limite: Animals / Female / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article