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| Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature GI Rice, PR Kasher, GMA Forte, NM Mannion, SM Greenwood, ... Nature genetics 44 (11), 1243-1248, 2012 | 841 | 2012 |
| Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response GI Rice, J Bond, A Asipu, RL Brunette, IW Manfield, IM Carr, JC Fuller, ... Nature genetics 41 (7), 829-832, 2009 | 782 | 2009 |
| Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 YJ Crow, DS Chase, J Lowenstein Schmidt, M Szynkiewicz, GMA Forte, ... American journal of medical genetics Part A 167 (2), 296-312, 2015 | 559 | 2015 |
| Clinical and molecular phenotype of Aicardi-Goutieres syndrome G Rice, T Patrick, R Parmar, CF Taylor, A Aeby, J Aicardi, R Artuch, ... The American Journal of Human Genetics 81 (4), 713-725, 2007 | 465 | 2007 |
| Childhood arterial ischaemic stroke incidence, presenting features, and risk factors: a prospective population-based study AA Mallick, V Ganesan, FJ Kirkham, P Fallon, T Hedderly, T McShane, ... The Lancet Neurology 13 (1), 35-43, 2014 | 412 | 2014 |
| Comprehensive rare variant analysis via whole-genome sequencing to determine the molecular pathology of inherited retinal disease KJ Carss, G Arno, M Erwood, J Stephens, A Sanchis-Juan, S Hull, K Megy, ... The American Journal of Human Genetics 100 (1), 75-90, 2017 | 408 | 2017 |
| Disease course and treatment responses in children with relapsing myelin oligodendrocyte glycoprotein antibody–associated disease Y Hacohen, YY Wong, C Lechner, M Jurynczyk, S Wright, B Konuskan, ... JAMA neurology 75 (4), 478-487, 2018 | 361 | 2018 |
| Utility and safety of rituximab in pediatric autoimmune and inflammatory CNS disease RC Dale, F Brilot, LV Duffy, M Twilt, AT Waldman, S Narula, E Muscal, ... Neurology 83 (2), 142-150, 2014 | 331 | 2014 |
| Paediatric autoimmune encephalopathies: clinical features, laboratory investigations and outcomes in patients with or without antibodies to known central nervous system … Y Hacohen, S Wright, P Waters, S Agrawal, L Carr, H Cross, C De Sousa, ... Journal of Neurology, Neurosurgery & Psychiatry 84 (7), 748-755, 2013 | 280 | 2013 |
| Prevalence and predictors of vitamin D insufficiency in children: a Great Britain population based study M Absoud, C Cummins, MJ Lim, E Wassmer, N Shaw PloS one 6 (7), e22179, 2011 | 264 | 2011 |
| Consensus statement: evaluation of new and existing therapeutics for pediatric multiple sclerosis T Chitnis, S Tenembaum, B Banwell, L Krupp, D Pohl, K Rostasy, EA Yeh, ... Multiple Sclerosis Journal 18 (1), 116-127, 2012 | 260 | 2012 |
| Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia MA Kurian, J Zhen, SY Cheng, Y Li, SR Mordekar, P Jardine, NV Morgan, ... The Journal of clinical investigation 119 (6), 1595-1603, 2009 | 242 | 2009 |
| Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN) MA Kurian, NV Morgan, L MacPherson, K Foster, D Peake, R Gupta, ... Neurology 70 (18), 1623-1629, 2008 | 237 | 2008 |
| Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis MA Willemsen, MM Verbeek, EJ Kamsteeg, JF de Rijk-van Andel, A Aeby, ... Brain 133 (6), 1810-1822, 2010 | 234 | 2010 |
| Myelin oligodendrocyte glycoprotein antibodies are associated with a non-MS course in children Y Hacohen, M Absoud, K Deiva, C Hemingway, P Nytrova, M Woodhall, ... Neuroimmunology & Neuroinflammation 2 (2), e81, 2015 | 227 | 2015 |
| Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study MA Kurian, Y Li, J Zhen, E Meyer, N Hai, HJ Christen, GF Hoffmann, ... The Lancet Neurology 10 (1), 54-62, 2011 | 215 | 2011 |
| Diagnostic algorithm for relapsing acquired demyelinating syndromes in children Y Hacohen, K Mankad, WK Chong, F Barkhof, A Vincent, M Lim, ... Neurology 89 (3), 269-278, 2017 | 173 | 2017 |
| Neurological manifestations of SARS-CoV-2 infection in hospitalised children and adolescents in the UK: a prospective national cohort study STJ Ray, O Abdel-Mannan, M Sa, C Fuller, GK Wood, K Pysden, M Yoong, ... The Lancet Child & Adolescent Health 5 (9), 631-641, 2021 | 159 | 2021 |
| Paediatric acquired demyelinating syndromes: incidence, clinical and magnetic resonance imaging features M Absoud, MJ Lim, WK Chong, CG De Goede, K Foster, R Gunny, ... Multiple Sclerosis Journal 19 (1), 76-86, 2013 | 156 | 2013 |
Ming LimEvelina London Children's Hospital, King's Health Partners Academic Health Science CentreVerified email at gstt.nhs.uk
