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

Year Number of Results
2008 2
2009 1
2010 2
2012 5
2013 5
2014 1
2015 1
2016 1
2017 2
2018 1
2019 4
2020 1
2021 4
2022 5
2023 8
2024 3

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41 results

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Page 1
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
Cunha P, Petit E, Coutelier M, Coarelli G, Mariotti C, Faber J, Van Gaalen J, Damasio J, Fleszar Z, Tosi M, Rocca C, De Michele G, Minnerop M, Ewenczyk C, Santorelli FM, Heinzmann A, Bird T, Amprosi M, Indelicato E, Benussi A, Charles P, Stendel C, Romano S, Scarlato M, Le Ber I, Bassi MT, Serrano M, Schmitz-Hübsch T, Doss S, Van Velzen GAJ, Thomas Q, Trabacca A, Ortigoza-Escobar JD, D'Arrigo S, Timmann D, Pantaleoni C, Martinuzzi A, Besse-Pinot E, Marsili L, Cioffi E, Nicita F, Giorgetti A, Moroni I, Romaniello R, Casali C, Ponger P, Casari G, De Bot ST, Ristori G, Blumkin L, Borroni B, Goizet C, Marelli C, Boesch S, Anheim M, Filla A, Houlden H, Bertini E, Klopstock T, Synofzik M, Riant F, Zanni G, Magri S, Di Bella D, Nanetti L, Sequeiros J, Oliveira J, Van de Warrenburg B, Schöls L, Taroni F, Brice A, Durr A. Cunha P, et al. Among authors: de bot st. Am J Hum Genet. 2023 Jul 6;110(7):1098-1109. doi: 10.1016/j.ajhg.2023.05.009. Epub 2023 Jun 9. Am J Hum Genet. 2023. PMID: 37301203 Free PMC article.
Quality of life, health-related quality of life, and associated factors in Huntington's disease: a systematic review.
van Lonkhuizen PJC, Frank W, Heemskerk AW, van Duijn E, de Bot ST, Mühlbäck A, Landwehrmeyer GB, Chavannes NH, Meijer E; HEALTHE-RND consortium. van Lonkhuizen PJC, et al. Among authors: de bot st. J Neurol. 2023 May;270(5):2416-2437. doi: 10.1007/s00415-022-11551-8. Epub 2023 Jan 30. J Neurol. 2023. PMID: 36715747 Free PMC article. Review.
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.
GLUT-1 changes in paediatric Huntington disease brain cortex and fibroblasts: an observational case-control study.
Tramutola A, Bakels HS, Perrone F, Di Nottia M, Mazza T, Abruzzese MP, Zoccola M, Pagnotta S, Carrozzo R, de Bot ST, Perluigi M, van Roon-Mom WMC, Squitieri F. Tramutola A, et al. Among authors: de bot st. EBioMedicine. 2023 Nov;97:104849. doi: 10.1016/j.ebiom.2023.104849. Epub 2023 Oct 26. EBioMedicine. 2023. PMID: 37898095 Free PMC article.
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.
41 results