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

Year Number of Results
1996 1
1998 1
1999 1
2000 1
2002 1
2004 5
2005 2
2006 2
2007 4
2008 4
2009 9
2010 3
2011 2
2012 5
2013 10
2014 10
2015 6
2016 10
2017 9
2018 9
2019 7
2020 7
2021 7
2022 4
2023 1
2024 0

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Similar articles for PMID: 23746551

108 results

Results by year

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Page 1
Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia.
Boukhris A, Schule R, Loureiro JL, Lourenço CM, Mundwiller E, Gonzalez MA, Charles P, Gauthier J, Rekik I, Acosta Lebrigio RF, Gaussen M, Speziani F, Ferbert A, Feki I, Caballero-Oteyza A, Dionne-Laporte A, Amri M, Noreau A, Forlani S, Cruz VT, Mochel F, Coutinho P, Dion P, Mhiri C, Schols L, Pouget J, Darios F, Rouleau GA, Marques W Jr, Brice A, Durr A, Zuchner S, Stevanin G. Boukhris A, et al. Am J Hum Genet. 2013 Jul 11;93(1):118-23. doi: 10.1016/j.ajhg.2013.05.006. Epub 2013 Jun 6. Am J Hum Genet. 2013. PMID: 23746551 Free PMC article.
Functional validation of novel variants in B4GALNT1 associated with early-onset complex hereditary spastic paraplegia with impaired ganglioside synthesis.
Alecu JE, Ohmi Y, Bhuiyan RH, Inamori KI, Nitta T, Saffari A, Jumo H, Ziegler M, de Gusmao CM, Sharma N, Ohno S, Manabe N, Yamaguchi Y, Kambe M, Furukawa K, Sahin M, Inokuchi JI, Furakawa K, Ebrahimi-Fakhari D. Alecu JE, et al. Am J Med Genet A. 2022 Sep;188(9):2590-2598. doi: 10.1002/ajmg.a.62880. Epub 2022 Jul 1. Am J Med Genet A. 2022. PMID: 35775650 Free PMC article.
A novel GBA2 gene missense mutation in spastic ataxia.
Votsi C, Zamba-Papanicolaou E, Middleton LT, Pantzaris M, Christodoulou K. Votsi C, et al. Ann Hum Genet. 2014 Jan;78(1):13-22. doi: 10.1111/ahg.12045. Epub 2013 Nov 20. Ann Hum Genet. 2014. PMID: 24252062
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.
Minnerop M, Kurzwelly D, Wagner H, Soehn AS, Reichbauer J, Tao F, Rattay TW, Peitz M, Rehbach K, Giorgetti A, Pyle A, Thiele H, Altmüller J, Timmann D, Karaca I, Lennarz M, Baets J, Hengel H, Synofzik M, Atasu B, Feely S, Kennerson M, Stendel C, Lindig T, Gonzalez MA, Stirnberg R, Sturm M, Roeske S, Jung J, Bauer P, Lohmann E, Herms S, Heilmann-Heimbach S, Nicholson G, Mahanjah M, Sharkia R, Carloni P, Brüstle O, Klopstock T, Mathews KD, Shy ME, de Jonghe P, Chinnery PF, Horvath R, Kohlhase J, Schmitt I, Wolf M, Greschus S, Amunts K, Maier W, Schöls L, Nürnberg P, Zuchner S, Klockgether T, Ramirez A, Schüle R. Minnerop M, et al. Brain. 2017 Jun 1;140(6):1561-1578. doi: 10.1093/brain/awx095. Brain. 2017. PMID: 28459997 Free PMC article.
CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.
Goizet C, Boukhris A, Durr A, Beetz C, Truchetto J, Tesson C, Tsaousidou M, Forlani S, Guyant-Maréchal L, Fontaine B, Guimarães J, Isidor B, Chazouillères O, Wendum D, Grid D, Chevy F, Chinnery PF, Coutinho P, Azulay JP, Feki I, Mochel F, Wolf C, Mhiri C, Crosby A, Brice A, Stevanin G. Goizet C, et al. Brain. 2009 Jun;132(Pt 6):1589-600. doi: 10.1093/brain/awp073. Epub 2009 May 12. Brain. 2009. PMID: 19439420
108 results