Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts-Reference-Cited by-同舟云学术

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

Published:2016-08-29 Issue:10 Volume:48 Page:1185-1192
ISSN:1061-4036
Container-title:Nature Genetics
language:en
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 M^ORCID,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 M^ORCID,Malpas Timothy J,Mehta Sarju G^ORCID,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 I^ORCID,Revy Patrick,van der Knaap Marjo S,Livingston John H^ORCID,O'Keefe Raymond T^ORCID,Crow Yanick J

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.3661.pdf

Reference30 articles.

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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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