Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts
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Published:2016-08-29
Issue:10
Volume:48
Page:1185-1192
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ISSN:1061-4036
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Container-title:Nature Genetics
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language:en
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Short-container-title:Nat Genet
Author:
Jenkinson Emma M, Rodero Mathieu P, Kasher Paul R, Uggenti Carolina, Oojageer Anthony, Goosey Laurence C, Rose Yoann, Kershaw Christopher J, Urquhart Jill E, Williams Simon G, Bhaskar Sanjeev S, O'Sullivan James, Baerlocher Gabriela M, Haubitz Monika, Aubert Geraldine, Barañano Kristin W, Barnicoat Angela J, Battini Roberta, Berger Andrea, Blair Edward M, Brunstrom-Hernandez Janice E, Buckard Johannes A, Cassiman David M, Caumes Rosaline, Cordelli Duccio MORCID, De Waele Liesbeth M, Fay Alexander J, Ferreira Patrick, Fletcher Nicholas A, Fryer Alan E, Goel Himanshu, Hemingway Cheryl A, Henneke Marco, Hughes Imelda, Jefferson Rosalind J, Kumar Ram, Lagae Lieven, Landrieu Pierre G, Lourenço Charles MORCID, Malpas Timothy J, Mehta Sarju GORCID, Metz Imke, Naidu Sakkubai, Õunap Katrin, Panzer Axel, Prabhakar Prab, Quaghebeur Gerardine, Schiffmann Raphael, Sherr Elliott H, Sinnathuray Kanaga R, Soh Calvin, Stewart Helen S, Stone John, Van Esch Hilde, Van Mol Christine E G, Vanderver Adeline, Wakeling Emma L, Whitney Andrea, Pavitt Graham D, Griffiths-Jones Sam, Rice Gillian IORCID, Revy Patrick, van der Knaap Marjo S, Livingston John HORCID, O'Keefe Raymond TORCID, Crow Yanick J
Publisher
Springer Science and Business Media LLC
Reference30 articles.
1. Labrune, P. et al. Extensive brain calcifications, leukodystrophy, and formation of parenchymal cysts: a new progressive disorder due to diffuse cerebral microangiopathy. Neurology 46, 1297–1301 (1996). 2. Nagae-Poetscher, L.M. et al. Leukoencephalopathy, cerebral calcifications, and cysts: new observations. Neurology 62, 1206–1209 (2004). 3. Corboy, J.R., Gault, J. & Kleinschmidt-DeMasters, B.K. An adult case of leukoencephalopathy with intracranial calcifications and cysts. Neurology 67, 1890–1892 (2006). 4. Livingston, J.H. et al. Leukoencephalopathy with calcifications and cysts: a purely neurological disorder distinct from coats plus. Neuropediatrics 45, 175–182 (2014). 5. Watkins, N.J. & Bohnsack, M.T. The box C/D and H/ACA snoRNPs: key players in the modification, processing and the dynamic folding of ribosomal RNA. Wiley Interdiscip. Rev. RNA 3, 397–414 (2012).
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