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

Year Number of Results
1975 1
1982 1
1983 3
1986 2
1987 2
1988 1
1989 1
1990 1
1991 2
1992 1
1993 3
1994 1
1995 7
1996 2
1999 2
2001 1
2002 2
2003 2
2004 3
2005 2
2006 4
2007 6
2008 4
2009 5
2010 7
2011 4
2012 4
2013 11
2014 3
2015 1
2016 1
2017 2
2018 5
2019 8
2020 6
2021 2
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Article type
Publication date

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106 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: 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
Effect of Mexiletine on Muscle Stiffness in Patients With Nondystrophic Myotonia Evaluated Using Aggregated N-of-1 Trials.
Stunnenberg BC, Raaphorst J, Groenewoud HM, Statland JM, Griggs RC, Woertman W, Stegeman DF, Timmermans J, Trivedi J, Matthews E, Saris CGJ, Schouwenberg BJ, Drost G, van Engelen BGM, van der Wilt GJ. Stunnenberg BC, et al. Among authors: saris cgj. JAMA. 2018 Dec 11;320(22):2344-2353. doi: 10.1001/jama.2018.18020. JAMA. 2018. PMID: 30535218 Free PMC article.
Autoantibody testing in idiopathic inflammatory myopathies.
Rietveld A, Lim J, de Visser M, van Engelen B, Pruijn G, Benveniste O, van der Kooi A, Saris C. Rietveld A, et al. Among authors: saris c. Pract Neurol. 2019 Aug;19(4):284-294. doi: 10.1136/practneurol-2017-001742. Epub 2019 Mar 2. Pract Neurol. 2019. PMID: 30826741 Review.
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.
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