PubMed (Bookshelf cited) for id: 400359

Year	Number of Results
1994	1
1999	2
2000	1
2002	1
2006	1
2007	2
2009	1
2010	4
2012	1
2013	4
2014	1
2015	2
2016	2
2017	2
2018	4
2019	1
2020	1
2021	1
2024	0

1

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting.

Stenson PD, Mort M, Ball EV, Chapman M, Evans K, Azevedo L, Hayden M, Heywood S, Millar DS, Phillips AD, Cooper DN. Stenson PD, et al. Hum Genet. 2020 Oct;139(10):1197-1207. doi: 10.1007/s00439-020-02199-3. Epub 2020 Jun 28. Hum Genet. 2020. PMID: 32596782 Free PMC article. Review.

2

Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes.

Elert-Dobkowska E, Stepniak I, Krysa W, Ziora-Jakutowicz K, Rakowicz M, Sobanska A, Pilch J, Antczak-Marach D, Zaremba J, Sulek A. Elert-Dobkowska E, et al. Neurogenetics. 2019 Mar;20(1):27-38. doi: 10.1007/s10048-019-00565-6. Epub 2019 Feb 19. Neurogenetics. 2019. PMID: 30778698 Free PMC article.

3

Spinal direct current stimulation (tsDCS) in hereditary spastic paraplegias (HSP): A sham-controlled crossover study.

Ardolino G, Bocci T, Nigro M, Vergari M, Di Fonzo A, Bonato S, Cogiamanian F, Cortese F, Cova I, Barbieri S, Priori A. Ardolino G, et al. J Spinal Cord Med. 2021 Jan;44(1):46-53. doi: 10.1080/10790268.2018.1543926. Epub 2018 Dec 3. J Spinal Cord Med. 2021. PMID: 30508408 Free PMC article. Clinical Trial.

4

Expression of N471D strumpellin leads to defects in the endolysosomal system.

Song L, Rijal R, Karow M, Stumpf M, Hahn O, Park L, Insall R, Schröder R, Hofmann A, Clemen CS, Eichinger L. Song L, et al. Dis Model Mech. 2018 Sep 13;11(9):dmm033449. doi: 10.1242/dmm.033449. Dis Model Mech. 2018. PMID: 30061306 Free PMC article.

5

A novel KIAA0196 mutation in a Chinese patient with spastic paraplegia 8: A case report.

Ma L, Shi Y, Chen Z, Li S, Qin W, Zhang J. Ma L, et al. Medicine (Baltimore). 2018 May;97(20):e10760. doi: 10.1097/MD.0000000000010760. Medicine (Baltimore). 2018. PMID: 29768361 Free PMC article.

6

Gastrointestinal and urinary complaints in adults with hereditary spastic paraparesis.

Kanavin ØJ, Fjermestad KW. Kanavin ØJ, et al. Orphanet J Rare Dis. 2018 Apr 16;13(1):58. doi: 10.1186/s13023-018-0804-8. Orphanet J Rare Dis. 2018. PMID: 29661209 Free PMC article.

7

Defects in ER-endosome contacts impact lysosome function in hereditary spastic paraplegia.

Allison R, Edgar JR, Pearson G, Rizo T, Newton T, Günther S, Berner F, Hague J, Connell JW, Winkler J, Lippincott-Schwartz J, Beetz C, Winner B, Reid E. Allison R, et al. J Cell Biol. 2017 May 1;216(5):1337-1355. doi: 10.1083/jcb.201609033. Epub 2017 Apr 7. J Cell Biol. 2017. PMID: 28389476 Free PMC article.

8

Clinical and genetic study of hereditary spastic paraplegia in Canada.

Chrestian N, Dupré N, Gan-Or Z, Szuto A, Chen S, Venkitachalam A, Brisson JD, Warman-Chardon J, Ahmed S, Ashtiani S, MacDonald H, Mohsin N, Mourabit-Amari K, Provencher P, Boycott KM, Stavropoulos DJ, Dion PA, Ray PN, Suchowersky O, Rouleau GA, Yoon G. Chrestian N, et al. Neurol Genet. 2016 Dec 5;3(1):e122. doi: 10.1212/NXG.0000000000000122. eCollection 2017 Feb. Neurol Genet. 2016. PMID: 27957547 Free PMC article.

9

Timing, rates and spectra of human germline mutation.

Rahbari R, Wuster A, Lindsay SJ, Hardwick RJ, Alexandrov LB, Turki SA, Dominiczak A, Morris A, Porteous D, Smith B, Stratton MR; UK10K Consortium; Hurles ME. Rahbari R, et al. Nat Genet. 2016 Feb;48(2):126-133. doi: 10.1038/ng.3469. Epub 2015 Dec 14. Nat Genet. 2016. PMID: 26656846 Free PMC article.

10

The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8.

Jahic A, Khundadze M, Jaenisch N, Schüle R, Klimpe S, Klebe S, Frahm C, Kassubek J, Stevanin G, Schöls L, Brice A, Hübner CA, Beetz C. Jahic A, et al. Orphanet J Rare Dis. 2015 Nov 16;10:147. doi: 10.1186/s13023-015-0359-x. Orphanet J Rare Dis. 2015. PMID: 26572744 Free PMC article.

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