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

Year Number of Results
1951 1
1955 1
1985 2
1988 2
1989 1
1990 2
1991 1
1993 1
1994 1
1996 4
1997 2
1998 2
2000 4
2001 6
2002 4
2003 4
2004 5
2005 1
2006 5
2007 11
2008 9
2009 5
2011 1
2012 3
2013 1
2014 1
2015 1
2016 3
2017 2
2018 5
2019 3
2020 6
2021 3
2022 1
2023 1
2024 0

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Similar articles for PMID: 17213231

100 results

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Page 1
Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz-Jampel syndrome neuromyotonia.
Stum M, Girard E, Bangratz M, Bernard V, Herbin M, Vignaud A, Ferry A, Davoine CS, Echaniz-Laguna A, René F, Marcel C, Molgó J, Fontaine B, Krejci E, Nicole S. Stum M, et al. Hum Mol Genet. 2008 Oct 15;17(20):3166-79. doi: 10.1093/hmg/ddn213. Epub 2008 Jul 21. Hum Mol Genet. 2008. PMID: 18647752
Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia.
Arikawa-Hirasawa E, Le AH, Nishino I, Nonaka I, Ho NC, Francomano CA, Govindraj P, Hassell JR, Devaney JM, Spranger J, Stevenson RE, Iannaccone S, Dalakas MC, Yamada Y. Arikawa-Hirasawa E, et al. Am J Hum Genet. 2002 May;70(5):1368-75. doi: 10.1086/340390. Epub 2002 Apr 8. Am J Hum Genet. 2002. PMID: 11941538 Free PMC article.
100 results