换一批Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts
第一作者：
Jenkinson, Emma M.
作者：
Jenkinson, Emma M. [1]
;
Rodero, Mathieu P. [2]
;
Kasher, Paul R. [3]
;
Uggenti, Carolina [4]
;
Oojageer, Anthony [5]
;
Goosey, Laurence C. [6]
;
Rose, Yoann [7]
;
Kershaw, Christopher J. [8]
;
Urquhart, Jill E. [9]
;
Williams, Simon G. [10]
;
Bhaskar, Sanjeev S. [11]
;
O'Sullivan, James [12]
;
Baerlocher, Gabriela M. [13]
;
Haubitz, Monika [14]
;
Aubert, Geraldine [15]
;
Baranano, Kristin W. [16]
;
Barnicoat, Angela J. [17]
;
Battini, Roberta [18]
;
Berger, Andrea [19]
;
Blair, Edward M. [20]
;
Brunstrom-Hernandez, Janice E. [21]
;
Buckard, Johannes A. [22]
;
Cassiman, David M. [23]
;
Caumes, Rosaline [24]
;
Cordelli, Duccio M. [25]
;
De Waele, Liesbeth M. [26]
;
Fay, Alexander J. [27]
;
Ferreira, Patrick [28]
;
Fletcher, Nicholas A. [29]
;
Fryer, Alan E. [30]
;
Goel, Himanshu [31]
;
Hemingway, Cheryl A. [32]
;
Henneke, Marco [33]
;
Hughes, Imelda [34]
;
Jefferson, Rosalind J. [35]
;
Kumar, Ram [36]
;
Lagae, Lieven [37]
;
Landrieu, Pierre G. [38]
;
Lourenco, Charles M. [39]
;
Malpas, Timothy J. [40]
;
Mehta, Sarju G. [41]
;
Metz, Imke [42]
;
Naidu, Sakkubai [43]
;
Ounap, Katrin [44]
;
Panzer, Axel [45]
;
Prabhakar, Prab [46]
;
Quaghebeur, Gerardine ;
Schiffmann, Raphael ;
Sherr, Elliott H. ;
Sinnathuray, Kanaga R. ;
Soh, Calvin ;
Stewart, Helen S. ;
Stone, John ;
Van Esch, Hide ;
Van Mol, Christine E. G. ;
Vanderver, Adeline ;
Wakeling, Emma L. ;
Whitney, Andrea ;
Pavitt, Graham D. ;
Griffiths-Jones, Sam ;
Rice, Gillian I. ;
Revy, Patrick ;
van der Knaap, Marjo S. ;
Livingston, John H. ;
O'Keefe, Raymond T. ;
Crow, Yanick J.
作者单位：
Univ Hosp Leuven, Dept Paediat Neurol, Leuven, Belgium
[1]
Hop Necker Enfants Malad, Inst Imagine, INSERM UMR 1163, Lab Genome Dynam Immune Syst, Paris, France
[2]
Univ Sao Paulo, Clin Hosp Ribeirao Preto, Neurogenet Div, Sao Paulo, Brazil
[3]
Liverpool Womens NHS Fdn Trust, Dept Clin Genet, Liverpool, Merseyside, England
[4]
Hunter Genet Hunter New England Local Hlth Dist, Waratah, NSW, Australia
[5]
George Washington Univ, Childrens Natl Hlth Syst, Sch Med, Dept Neurol, Washington, DC USA
[6]
Leeds Gen Infirm, Dept Paediat Neurol, Leeds, W Yorkshire, England
[7]
Baylor Res Inst, Inst Metab Dis, Dallas, TX USA
[8]
Georg August Univ, Univ Med Ctr, Dept Pediat & Adolescent Med, Gottingen, Germany
[9]
Tartu Univ Hosp, Dept Genet, Tartu, Estonia
[10]
London North West Healthcare NHS Trust, North West Thames Reg Genet Serv, Harrow, Middx, England
[11]
Vrije Univ Amsterdam, Med Ctr, Child Neurol & Amsterdam Neurosci, Amsterdam, Netherlands
[12]
Univ Hosp Southampton NHS Trust, Dept Child Neurol, Southampton, Hants, England
[13]
Walton Ctr NHS Fdn Trust, Dept Neurol, Liverpool, Merseyside, England
[14]
Cent Manchester Univ Hosp NHS Fdn Trust, Pediat Neurol, Manchester, Lancs, England
[15]
IRCCS Stella Maris, Dept Dev, Pisa, Italy
[16]
Great Ormond St Hosp NHS Fdn Trust, Dept Paediat Neurol, London, England
[17]
Repeat Diagnost Inc, N Vancouver, BC, Canada
[18]
Salford Royal NHS Fdn Trust, Neuroradiol Dept, Salford, Lancs, England
[19]
Katholieke Univ Leuven, Univ Hosp Leuven, Ctr Human Genet, Leuven, Belgium
[20]
Univ Leuven, Dept Dev & Regenerat, Paediat Neurol, Leuven, Belgium
[21]
CHU Paris Sud Bicetre, Dept Paediat Neurol, Le Kremlin Bicetre, France
[22]
Univ Bern, Univ Hosp Bern, Inselspital, Dept Hematol, Bern, Switzerland
[23]
Univ Manchester, Sch Biol Sci, Fac Biol Med & Hlth, Div Mol & Cellular Funct, Manchester, Lancs
[24]
Oxford Univ Hosp NHS Fdn Trust, Churchill Hosp, Dept Clin Genet, Oxford, England
[25]
Jersey Gen Hosp, Dept Pediat, St Helier, England
[26]
Alberta Childrens Prov Gen Hosp, Div Med Genet, Calgary, AB, Canada
[27]
Univ Manchester, Sch Biol Sci, Fac Biol Med & Hlth, Div Evolut & Genom Sci, Manchester, Lancs
[28]
Klinikum Weiden, Dept Neuropediat, Weiden, Germany
[29]
Alder Hey Childrens NHS Fdn Trust, Dept Paediat Neurol, Liverpool, Merseyside, England
[30]
Hop Roger Salengro, Dept Neuropediat, Lille, France
[31]
St Augustinusziekenhuis, Dept Pediat Neonatol, Antwerp, Belgium
[32]
Royal Berkshire Hosp, Dingley Specialist Childrens Ctr, Reading, Berks, England
[33]
Johns Hopkins Med Inst Neurol & Pediat, Kennedy Krieger Inst, Hugo Moser Res Inst, Baltimore, MD USA
[34]
DRK Kliniken BerlinWestend, Paediat Neurol, Epilepsy Ctr, Berlin, Germany
[35]
Hop Necker Enfants Malad, INSERM UMR 1163, Inst Imagine, Lab Neurogenet & Neuroinflammat, Paris
[36]
CP Pl PLLC, Plano, TX USA
[37]
Johns Hopkins Univ, Sch Med, Dept Neurol, Baltimore, MD 21205 USA
[38]
Great Ormond St Hosp NHS Fdn Trust, Dept Clin Genet, London, England
[39]
St Orsola Marcello Malpighi Hosp, Paediat Neurol Unit, Bologna, Italy
[40]
Addenbrookes Hosp, East Anglian Reg Genet Serv, Cambridge, England
[41]
Oxford Univ Hosp NHS Fdn Trust, Dept Neuroradiol, Oxford, England
[42]
Univ Edinburgh, Western Gen Hosp, Dept Clin Neurosci, Edinburgh, Midlothian, Scotland
[43]
Leuven Univ Hosp, Metab Ctr, Leuven, Belgium
[44]
Univ Calif San Francisco, Dept Neurol, San Francisco, CA 94143 USA
[45]
Wexham Pk Hosp, Dept Pediat, Slough, Berks, England
[46]
发布时间
2017-04-06
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Nature Genetics
Nature Genetics
1185-1192页
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