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

Year Number of Results
2006 2
2007 2
2008 2
2009 3
2010 1
2011 1
2012 2
2013 3
2014 1
2015 1
2016 1
2017 2
2018 5
2019 7
2020 5
2021 2
2022 5
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39 results
Results by year
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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: saris cgj. 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.
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.
Westra D, Schouten MI, Stunnenberg BC, Kusters B, Saris CGJ, Erasmus CE, van Engelen BG, Bulk S, Verschuuren-Bemelmans CC, Gerkes EH, de Geus C, van der Zwaag PA, Chan S, Chung B, Barge-Schaapveld DQCM, Kriek M, Sznajer Y, van Spaendonck-Zwarts K, van der Kooi AJ, Krause A, Schönewolf-Greulich B, de Die-Smulders C, Sallevelt SCEH, Krapels IPC, Rasmussen M, Maystadt I, Kievit AJA, Witting N, Pennings M, Meijer R, Gillissen C, Kamsteeg EJ, Voermans NC. Westra D, et al. Among authors: saris cgj. J Neuromuscul Dis. 2019;6(2):241-258. doi: 10.3233/JND-180376. J Neuromuscul Dis. 2019. PMID: 31127727
N-of-1 trial of salbutamol in hyperkalaemic periodic paralysis.
Stunnenberg BC, Merkus EC, Raaphorst J, Saris CG, Groenewoud H, Statland J, Weijma R, van Vlijmen B, Griggs R, van Engelen BGM, van der Wilt GJ. Stunnenberg BC, et al. Among authors: saris cg. J Neurol Neurosurg Psychiatry. 2021 Dec;92(12):1352-1353. doi: 10.1136/jnnp-2021-326347. Epub 2021 Jun 10. J Neurol Neurosurg Psychiatry. 2021. PMID: 34112717 No abstract available.
Ultrasound can differentiate inclusion body myositis from disease mimics.
Leeuwenberg KE, van Alfen N, Christopher-Stine L, Paik JJ, Tiniakou E, Mecoli C, Doorduin J, Saris CGJ, Albayda J. Leeuwenberg KE, et al. Among authors: saris cgj. Muscle Nerve. 2020 Jun;61(6):783-788. doi: 10.1002/mus.26875. Epub 2020 Apr 11. Muscle Nerve. 2020. PMID: 32239702 Free PMC article.
Muscle fiber dysfunction contributes to weakness in inclusion body myositis.
Lassche S, Rietveld A, Heerschap A, van Hees HW, Hopman MT, Voermans NC, Saris CG, van Engelen BG, Ottenheijm CA. Lassche S, et al. Among authors: saris cg. Neuromuscul Disord. 2019 Jun;29(6):468-476. doi: 10.1016/j.nmd.2019.03.001. Epub 2019 Mar 7. Neuromuscul Disord. 2019. PMID: 31101463 Free article.
39 results