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

Year Number of Results
2008 3
2009 1
2010 2
2012 5
2013 5
2014 1
2015 1
2016 1
2017 1
2018 1
2019 4
2020 1
2021 4
2022 5
2023 3
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33 results
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Page 1
KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia.
Pennings M, Schouten MI, van Gaalen J, Meijer RPP, de Bot ST, Kriek M, Saris CGJ, van den Berg LH, van Es MA, Zuidgeest DMH, Elting MW, van de Kamp JM, van Spaendonck-Zwarts KY, Die-Smulders C, Brilstra EH, Verschuuren CC, de Vries BBA, Bruijn J, Sofou K, Duijkers FA, Jaeger B, Schieving JH, van de Warrenburg BP, Kamsteeg EJ. Pennings M, et al. Among authors: de bot st. Eur J Hum Genet. 2020 Jan;28(1):40-49. doi: 10.1038/s41431-019-0497-z. Epub 2019 Sep 5. Eur J Hum Genet. 2020. PMID: 31488895 Free PMC article.
Reviewing the genetic causes of spastic-ataxias.
de Bot ST, Willemsen MA, Vermeer S, Kremer HP, van de Warrenburg BP. de Bot ST, et al. Neurology. 2012 Oct 2;79(14):1507-14. doi: 10.1212/WNL.0b013e31826d5fb0. Neurology. 2012. PMID: 23033504 Review.
Child neurology: hereditary spastic paraplegia in children.
de Bot ST, van de Warrenburg BP, Kremer HP, Willemsen MA. de Bot ST, et al. Neurology. 2010 Nov 9;75(19):e75-9. doi: 10.1212/WNL.0b013e3181fc2776. Neurology. 2010. PMID: 21060088 Review. No abstract available.
The prevalence of pain in Huntington's disease in a large worldwide cohort.
Sprenger GP, Roos RAC, van Zwet E, Reijntjes RH, Achterberg WP, de Bot ST. Sprenger GP, et al. Among authors: de bot st. Parkinsonism Relat Disord. 2021 Aug;89:73-78. doi: 10.1016/j.parkreldis.2021.06.015. Epub 2021 Jun 19. Parkinsonism Relat Disord. 2021. PMID: 34243026 Free article.
De novo SPAST mutations may cause a complex SPG4 phenotype.
Schieving JH, de Bot ST, van de Pol LA, Wolf NI, Brilstra EH, Frints SG, van Gaalen J, Misra-Isrie M, Pennings M, Verschuuren-Bemelmans CC, Kamsteeg EJ, van de Warrenburg BP, Willemsen MA. Schieving JH, et al. Among authors: de bot st. Brain. 2019 Jul 1;142(7):e31. doi: 10.1093/brain/awz140. Brain. 2019. PMID: 31157359 No abstract available.
33 results