Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy.

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作者： Jeremy M,Sullivan ^[1] ; William W,Motley ^[1] ; Janel O,Johnson ^[2] ; William H,Aisenberg ^[1] ; Katherine L,Marshall ^[1] ; Katy Es,Barwick ^[3] ; Lingling,Kong ^[1] ; Jennifer S,Huh ^[1] ; Pamela C,Saavedra-Rivera ^[1] ; Meriel M,McEntagart ^[4] ; Marie-Helene,Marion ^[5] ; Lucy A,Hicklin ^[6] ; Hamid,Modarres ^[5] ; Emma L,Baple ^[3] ; Mohamed H,Farah ^[1] ; Aamir R,Zuberi ^[7] ; Cathleen M,Lutz ^[8] ; Rachelle,Gaudet ^[8] ; Bryan J,Traynor ^[9] ; Andrew H,Crosby ^[2] ; Charlotte J,Sumner ^[10]

作者单位： Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA. ^[1] Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, Maryland, USA. ^[2] RILD Wellcome Wolfson Centre, Royal Devon and Exeter NHS Foundation Trust, Exeter, Devon, United Kingdom. ^[3] Medical Genetics, Clinical Developmental Sciences, St. George's University of London, London, United Kingdom. ^[4] Department of Neurology and. ^[5] Department of Ears, Nose and Throat (ENT), St. George's Hospital, London, United Kingdom. ^[6] Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA. ^[7] Genetic Resource Science, The Jackson Laboratory, Bar Harbor, Maine, USA. ^[8] Department of Molecular and Cellular Biology, Harvard University, Cambridge, Massachusetts, USA. ^[9] Brain Sciences Institute, Department of Neurology, Johns Hopkins Hospital, Baltimore, Maryland, USA. ^[10]

关键词 Genetic diseases Genetics Neurodegeneration Neuromuscular disease Neuroscience