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| 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 | 828 | 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 | 639 | 2015 |
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| 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 | 466 | 2017 |
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| 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 | 421 | 2018 |
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| 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 | 270 | 2012 |
| 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 | 270 | 2011 |
| 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 | 260 | 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 | 248 | 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 | 245 | 2010 |
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| 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 | 220 | 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 | 196 | 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 | 184 | 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 | 171 | 2013 |
Ming LimEvelina London Children's Hospital; Faculty of Life Sciences and Medicine, King's College LondonEmail verificata su gstt.nhs.uk
