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

Year Number of Results
1975 1
1981 1
1988 1
1990 3
1991 4
1993 1
1994 2
1995 1
1997 2
1998 7
1999 3
2000 6
2001 2
2002 2
2003 3
2004 6
2005 2
2006 11
2007 8
2008 9
2009 15
2010 13
2011 8
2012 15
2013 16
2014 17
2015 11
2016 13
2017 14
2018 17
2019 11
2020 16
2021 12
2022 23
2023 16
2024 8

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PubMed for id: 1843346

272 results

Results by year

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Page 1
Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome.
Hanein S, Martin E, Boukhris A, Byrne P, Goizet C, Hamri A, Benomar A, Lossos A, Denora P, Fernandez J, Elleuch N, Forlani S, Durr A, Feki I, Hutchinson M, Santorelli FM, Mhiri C, Brice A, Stevanin G. Hanein S, et al. Am J Hum Genet. 2008 Apr;82(4):992-1002. doi: 10.1016/j.ajhg.2008.03.004. Am J Hum Genet. 2008. PMID: 18394578 Free PMC article.
ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia.
Bouwkamp CG, Afawi Z, Fattal-Valevski A, Krabbendam IE, Rivetti S, Masalha R, Quadri M, Breedveld GJ, Mandel H, Tailakh MA, Beverloo HB, Stevanin G, Brice A, van IJcken WFJ, Vernooij MW, Dolga AM, de Vrij FMS, Bonifati V, Kushner SA. Bouwkamp CG, et al. Neurol Genet. 2018 Mar 21;4(2):e223. doi: 10.1212/NXG.0000000000000223. eCollection 2018 Apr. Neurol Genet. 2018. PMID: 29577077 Free PMC article.
SPG11 Presenting with Tremor.
Schneider SA, Mummery CJ, Mehrabian M, Houlden H, Bain PG. Schneider SA, et al. Tremor Other Hyperkinet Mov (N Y). 2012;2:tre-02-104-666-1. doi: 10.7916/D82B8WRR. Epub 2012 Sep 14. Tremor Other Hyperkinet Mov (N Y). 2012. PMID: 23439843 Free PMC article.
Neuroinflammatory disease signatures in SPG11-related hereditary spastic paraplegia patients.
Krumm L, Pozner T, Zagha N, Coras R, Arnold P, Tsaktanis T, Scherpelz K, Davis MY, Kaindl J, Stolzer I, Süß P, Khundadze M, Hübner CA, Riemenschneider MJ, Baets J, Günther C, Jayadev S, Rothhammer V, Krach F, Winkler J, Winner B, Regensburger M. Krumm L, et al. Acta Neuropathol. 2024 Feb 2;147(1):28. doi: 10.1007/s00401-023-02675-w. Acta Neuropathol. 2024. PMID: 38305941 Free PMC article.
272 results