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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2007 1
2009 2
2010 2
2011 2
2012 2
2013 2
2014 4
2015 1
2016 5
2017 2
2019 1
2020 1
2021 2
2022 1
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20 results
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Page 1
Neurological manifestations of SARS-CoV-2 infection in hospitalised children and adolescents in the UK: a prospective national cohort study.
Ray STJ, Abdel-Mannan O, Sa M, Fuller C, Wood GK, Pysden K, Yoong M, McCullagh H, Scott D, McMahon M, Thomas N, Taylor M, Illingworth M, McCrea N, Davies V, Whitehouse W, Zuberi S, Guthrie K, Wassmer E, Shah N, Baker MR, Tiwary S, Tan HJ, Varma U, Ram D, Avula S, Enright N, Hassell J, Ross Russell AL, Kumar R, Mulholland RE, Pett S, Galea I, Thomas RH, Lim M, Hacohen Y, Solomon T, Griffiths MJ, Michael BD, Kneen R; CoroNerve study group. Ray STJ, et al. Among authors: pysden k. Lancet Child Adolesc Health. 2021 Sep;5(9):631-641. doi: 10.1016/S2352-4642(21)00193-0. Epub 2021 Jul 15. Lancet Child Adolesc Health. 2021. PMID: 34273304 Free PMC article.
Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood.
Lewis-Smith D, Kamer KJ, Griffin H, Childs AM, Pysden K, Titov D, Duff J, Pyle A, Taylor RW, Yu-Wai-Man P, Ramesh V, Horvath R, Mootha VK, Chinnery PF. Lewis-Smith D, et al. Among authors: pysden k. Neurol Genet. 2016 Mar 3;2(2):e59. doi: 10.1212/NXG.0000000000000059. eCollection 2016 Apr. Neurol Genet. 2016. PMID: 27123478 Free PMC article.
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.
Brunklaus A, Brünger T, Feng T, Fons C, Lehikoinen A, Panagiotakaki E, Vintan MA, Symonds J, Andrew J, Arzimanoglou A, Delima S, Gallois J, Hanrahan D, Lesca G, MacLeod S, Marjanovic D, McTague A, Nuñez-Enamorado N, Perez-Palma E, Scott Perry M, Pysden K, Russ-Hall SJ, Scheffer IE, Sully K, Syrbe S, Vaher U, Velayutham M, Vogt J, Weiss S, Wirrell E, Zuberi SM, Lal D, Møller RS, Mantegazza M, Cestèle S. Brunklaus A, et al. Among authors: pysden k. Brain. 2022 Jun 13:awac210. doi: 10.1093/brain/awac210. Online ahead of print. Brain. 2022. PMID: 35696452 No abstract available.
The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease.
Ng YS, Alston CL, Diodato D, Morris AA, Ulrick N, Kmoch S, Houštěk J, Martinelli D, Haghighi A, Atiq M, Gamero MA, Garcia-Martinez E, Kratochvílová H, Santra S, Brown RM, Brown GK, Ragge N, Monavari A, Pysden K, Ravn K, Casey JP, Khan A, Chakrapani A, Vassallo G, Simons C, McKeever K, O'Sullivan S, Childs AM, Østergaard E, Vanderver A, Goldstein A, Vogt J, Taylor RW, McFarland R. Ng YS, et al. Among authors: pysden k. J Med Genet. 2016 Nov;53(11):768-775. doi: 10.1136/jmedgenet-2016-103910. Epub 2016 Jul 13. J Med Genet. 2016. PMID: 27412952 Free PMC article.
RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.
Ulrick N, Goldstein A, Simons C, Taft RJ, Helman G, Pizzino A, Bloom M, Vogt J, Pysden K, Diodato D, Martinelli D, Monavari A, Buhas D, van Karnebeek CD, Dorboz I, Boespflug-Tanguy O, Rodriguez D, Tétreault M, Majewski J, Bernard G, Ng YS; Care4Rare Canada Consortium, McFarland R, Vanderver A. Ulrick N, et al. Among authors: pysden k. Pediatr Neurol. 2017 Jan;66:59-62. doi: 10.1016/j.pediatrneurol.2016.09.003. Epub 2016 Sep 13. Pediatr Neurol. 2017. PMID: 27843092
A Report of Novel STIM1 Deficiency and 6-Year Follow-Up of Two Previous Cases Associated with Mild Immunological Phenotype.
Rice L, Stockdale C, Berry I, O'Riordan S, Pysden K, Anwar R, Rushambuza R, Blyth M, Srikanth S, Gwack Y, El-Sherbiny YM, Carter C, Savic S. Rice L, et al. Among authors: pysden k. J Clin Immunol. 2019 Apr;39(3):249-256. doi: 10.1007/s10875-019-00618-3. Epub 2019 Apr 4. J Clin Immunol. 2019. PMID: 30949876 Free article. No abstract available.
Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy.
Diggle CP, Sukoff Rizzo SJ, Popiolek M, Hinttala R, Schülke JP, Kurian MA, Carr IM, Markham AF, Bonthron DT, Watson C, Sharif SM, Reinhart V, James LC, Vanase-Frawley MA, Charych E, Allen M, Harms J, Schmidt CJ, Ng J, Pysden K, Strick C, Vieira P, Mankinen K, Kokkonen H, Kallioinen M, Sormunen R, Rinne JO, Johansson J, Alakurtti K, Huilaja L, Hurskainen T, Tasanen K, Anttila E, Marques TR, Howes O, Politis M, Fahiminiya S, Nguyen KQ, Majewski J, Uusimaa J, Sheridan E, Brandon NJ. Diggle CP, et al. Among authors: pysden k. Am J Hum Genet. 2016 Apr 7;98(4):735-43. doi: 10.1016/j.ajhg.2016.03.015. Am J Hum Genet. 2016. PMID: 27058446 Free PMC article.
Cogan's syndrome: a rare cause of meningoencephalitis.
Pysden KS, Long V, Ferrie CD; Leeds Teaching Hospitals NHS Trust. Pysden KS, et al. J Child Neurol. 2009 Jun;24(6):753-7. doi: 10.1177/0883073808329533. J Child Neurol. 2009. PMID: 19491118
20 results