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Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum

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第一作者: Crow, Yanick J.
作者: Crow, Yanick J. [1] ; Marshall, Heather [2] ; Rice, Gillian, I [3] ; Seabra, Luis [4] ; Jenkinson, Emma M. [5] ; Baranano, Kristin [6] ; Battini, Roberta [7] ; Berger, Andrea [8] ; Blair, Edward [9] ; Blauwblomme, Thomas [10] ; Bolduc, Francois [11] ; Boddaert, Natalie [12] ; Buckard, Johannes [13] ; Burnett, Heather [14] ; Calvert, Sophie [15] ; Caumes, Roseline [16] ; Ng, Andy Cheuk-Him [17] ; Chiang, Diana [18] ; Clifford, David B. [19] ; Cordelli, Duccio M. [20] ; Burca, Anna [21] ; Demic, Natasha [22] ; Desguerre, Isabelle [23] ; De Waele, Liesbeth [24] ; Di Fonzo, Alessio [25] ; Dunham, S. Richard [26] ; Dyack, Sarah [27] ; Elmslie, Frances [28] ; Ferrand, Mickael [29] ; Fisher, Gemma [30] ; Karimiani, Ehsan Ghayoor [31] ; Ghoumid, Jamal [32] ; Gibbon, Frances [33] ; Goel, Himanshu [34] ; Hilmarsen, Hilde T. [35] ; Hughes, Imelda [36] ; Jacob, Anu [37] ; Jones, Elizabeth A. [38] ; Kumar, Ram [39] ; Leventer, Richard J. [40] ; MacDonald, Shelley [41] ; Maroofian, Reza [42] ; Mehta, Sarju G. [43] ; Metz, Imke [44] ; Monfrini, Edoardo [45] ; Neumann, Daniela [46] ; Noetzel, Michael [47] ; O'Driscoll, Mary [48] ; Ounap, Katrin [49] ; Panzer, Axel [50] ; Parikh, Sumit [51] ; Prabhakar, Prab [52] ; Ramond, Francis [53] ; Sandford, Richard [54] ; Saneto, Russell ; Soh, Calvin ; Stutterd, Chloe A. ; Subramanian, Gopinath M. ; Talbot, Kevin ; Thomas, Rhys H. ; Toro, Camilo ; Touraine, Renaud ; Wakeling, Emma ; Wassmer, Evangeline ; Whitney, Andrea ; Livingston, John H. ; O'Keefe, Raymond T. ; Badrock, Andrew P.
作者单位: Univ Edinburgh, Ctr Genom & Expt Med, MRC Inst Genet & Mol Med, Edinburgh, Midlothian, Scotland [1] Univ Manchester, Manchester Acad Hlth Sci Ctr, Sch Biol Sci, Div Evolut & Genom Sci,Fac Biol Med & [2] Univ Paris, Inst Imagine, Lab Neurogenet & Neuroinflammat, Paris, France [3] Johns Hopkins Univ, Sch Med, Dept Neurol & Pediat, Baltimore, MD USA [4] Univ Pisa, Dept Clin & Expt Med, Pisa, Italy [5] Klin Nordoberpfalz AG, Dept Neuropediat, Tirschenreuth, Germany [6] Oxford Univ Hosp NHS Fdn Trust, 0Xford Ctr Genom Med, Oxford, England [7] Univ Paris, Necker Enfants Malad Hosp, AP HP, Paediat Neurosurg Dept, Paris, France [8] Univ Alberta, Dept Pediat, Edmonton, AB, Canada [9] Univ Paris, Hop Necker Enfants Malad, AP HP, Paediat Radiol Dept,INSERM U1163,Inst Imagine, Paris [10] SozialPadiatr Zentrum EVK Dusseldorf, Dept Neuropediat, Dusseldorf, Germany [11] HNEkidsRehab, Newcastle, NSW, Australia [12] Queensland Childrens Hosp, Neurosci Dept, Brisbane, Qld, Australia [13] CHU Lille, Clin Genet Guy Fontaine, Lille, France [14] Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63110 USA [15] Univ Bologna, S Orsola Hosp, Dept Med & Surg Sci DIMEC, Child Neurol & Psychiat Unit, Bologna, Italy [16] Vestfold Hosp, Dept Neurol, Tonsberg, Norway [17] Univ Paris, Hop Necker Enfants Malad, AP HP, Dept Paediat Neurol, Paris, France [18] Univ Hosp Leuven, Dept Paediat Neurol, Leuven, Belgium [19] Fdn IRCCS Ca Granda Osped Maggiore Policlin, Neurol Unit, Milan, Italy [20] St Georges Univ London, South West Thames Reg Genet Serv, London, England [21] CHRU Nancy, Dept Neurol, Nancy, Meurthe Moselle, France [22] Univ Hosp Wales, Dept Paediat Neurol, Cardiff, Wales [23] St Georges Univ London, Mol & Clin Sci Inst, London, England [24] Hunter New England Local Hlth Dist, Hunter Genet, Waratah, Australia [25] Telemark Hosp Trust, Dept Med Genet, Skien, Norway [26] Cent Manchester Univ Hosp NHS Fdn Trust, Dept Paediat Neurol, Manchester, Lancs, England [27] Walton Ctr NHS Trust, Dept Neurol, Liverpool, Merseyside, England [28] Alder Hey Childrens NHS Fdn Trust, Dept Paediat Neurol, Liverpool, Merseyside, England [29] Dalhousie Univ, Div Med Genet, Halifax, NS, Canada [30] Royal Childrens Hosp, Murdoch Childrens Res Inst, Dept Neurol, Melbourne, Vic, Australia [31] IWK Hlth Ctr, Maritime Med Genet, Halifax, NS, Canada [32] UCL, Dept Neuromuscular Disorders, Queen Sq Inst Neurol, London, England [33] Addenbrookes Hosp, East Anglian Reg Genet Serv, Cambridge, England [34] Georg August Univ, Univ Med Ctr, Dept Neuropathol, Gottingen, Germany [35] Klinikum Wilhelmshaven, Dept Neuropediat, Wilhelmshaven, Germany [36] Birmingham Womens Hosp NHS Fdn Trust, West Midlands Reg Clin Genet Serv, Birmingham Hlth Partners [37] Univ Tartu, Inst Clin Med, Dept Clin Genet, Tartu, Estonia [38] DRK Klin Berlin Westend, Paediat Neurol, Berlin, Germany [39] Great Ormond St Hosp Children NHS Fdn Trust, Dept Paediat Neurol, London, England [40] CHU Hop Nord, Serv Genet, St Etienne, France [41] Univ Cambridge, Acad Dept Med Genet, Sch Clin Med, Cambridge, England [42] Seattle Childrens Hosp, Neurosci Inst, Div Paediat Neurol, Seattle, WA USA [43] Manchester Univ Fdn NHS Trust, Radiol Dept, Manchester, Lancs, England [44] Cleveland Clin, Neurosci Inst, Neurogenet Program, Ctr Pediat Neurol, Cleveland, OH 44106 USA [45] Victorian Clin Genet Serv, Parkville, Vic, Australia [46] John Hunter Childrens Hosp, Dept Paediat Neurol, New Lambton Hts, NSW, Australia [47] Univ Oxford, Nuffield Dept Clin Neurosci, Oxford, England [48] Newcastle Univ, Translat & Clin Res Inst, Newcastle Upon Tyne, Tyne & Wear, England [49] NHGRI, NIH Undiagnosed Dis Program UDP, NIH, Bethesda, MD 20892 USA [50] Great Ormond St Hosp Children NHS Fdn Trust, North East Thames Reg Genet Serv, London, England [51] Birmingham Childrens Hosp, Dept Paediat Neurol, Birmingham, W Midlands, England [52] Univ Hosp Southampton NHS Fdn Trust, Dept Paediat Neurol, Southampton, Hants, England [53] Leeds Gen Infirm, Dept Paediat Neurol, Leeds, W Yorkshire, England [54]
发布时间 2021-03-08
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