Similar articles for PMID: 28157540

Year	Number of Results
1994	2
1996	1
1997	1
1998	1
1999	3
2000	1
2001	2
2002	1
2003	3
2004	5
2005	3
2006	4
2007	6
2008	3
2009	6
2010	4
2011	4
2012	8
2013	10
2014	9
2015	7
2016	8
2017	9
2018	4
2019	10
2020	5
2021	6
2022	6
2023	2
2024	0

1

Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23.

Lee JYW, Hsu CK, Michael M, Nanda A, Liu L, McMillan JR, Pourreyron C, Takeichi T, Tolar J, Reid E, Hayday T, Blumen SC, Abu-Mouch S, Straussberg R, Basel-Vanagaite L, Barhum Y, Zouabi Y, Al-Ajmi H, Huang HY, Lin TC, Akiyama M, Lee JYY, McLean WHI, Simpson MA, Parsons M, McGrath JA. Lee JYW, et al. Am J Hum Genet. 2017 Feb 2;100(2):364-370. doi: 10.1016/j.ajhg.2017.01.014. Am J Hum Genet. 2017. PMID: 28157540 Free PMC article.

2

Mutations in DSTYK and dominant urinary tract malformations.

Sanna-Cherchi S, Sampogna RV, Papeta N, Burgess KE, Nees SN, Perry BJ, Choi M, Bodria M, Liu Y, Weng PL, Lozanovski VJ, Verbitsky M, Lugani F, Sterken R, Paragas N, Caridi G, Carrea A, Dagnino M, Materna-Kiryluk A, Santamaria G, Murtas C, Ristoska-Bojkovska N, Izzi C, Kacak N, Bianco B, Giberti S, Gigante M, Piaggio G, Gesualdo L, Vukic DK, Vukojevic K, Saraga-Babic M, Saraga M, Gucev Z, Allegri L, Latos-Bielenska A, Casu D, State M, Scolari F, Ravazzolo R, Kiryluk K, Al-Awqati Q, D'Agati VD, Drummond IA, Tasic V, Lifton RP, Ghiggeri GM, Gharavi AG. Sanna-Cherchi S, et al. N Engl J Med. 2013 Aug 15;369(7):621-9. doi: 10.1056/NEJMoa1214479. Epub 2013 Jul 17. N Engl J Med. 2013. PMID: 23862974 Free PMC article.

3

A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24-q32.

Blumen SC, Bevan S, Abu-Mouch S, Negus D, Kahana M, Inzelberg R, Mazarib A, Mahamid A, Carasso RL, Slor H, Withers D, Nisipeanu P, Navon R, Reid E. Blumen SC, et al. Ann Neurol. 2003 Dec;54(6):796-803. doi: 10.1002/ana.10768. Ann Neurol. 2003. PMID: 14681889

4

Stop-gain mutations in UBAP1 cause pure autosomal-dominant spastic paraplegia.

Lin X, Su HZ, Dong EL, Lin XH, Zhao M, Yang C, Wang C, Wang J, Chen YJ, Yu H, Xu J, Ma LX, Xiong ZQ, Wang N, Chen WJ. Lin X, et al. Brain. 2019 Aug 1;142(8):2238-2252. doi: 10.1093/brain/awz158. Brain. 2019. PMID: 31203368

5

Exome sequencing implicates a novel heterozygous missense variant in DSTYK in autosomal dominant lower urinary tract dysfunction and mild hereditary spastic paraparesis.

Vidic C, Zaniew M, Jurga S, Thiele H, Reutter H, Hilger AC. Vidic C, et al. Mol Cell Pediatr. 2021 Oct 4;8(1):13. doi: 10.1186/s40348-021-00122-y. Mol Cell Pediatr. 2021. PMID: 34608560 Free PMC article.

6

Genetic and phenotypic characterization of complex hereditary spastic paraplegia.

Kara E, Tucci A, Manzoni C, Lynch DS, Elpidorou M, Bettencourt C, Chelban V, Manole A, Hamed SA, Haridy NA, Federoff M, Preza E, Hughes D, Pittman A, Jaunmuktane Z, Brandner S, Xiromerisiou G, Wiethoff S, Schottlaender L, Proukakis C, Morris H, Warner T, Bhatia KP, Korlipara LV, Singleton AB, Hardy J, Wood NW, Lewis PA, Houlden H. Kara E, et al. Brain. 2016 Jul;139(Pt 7):1904-18. doi: 10.1093/brain/aww111. Epub 2016 May 23. Brain. 2016. PMID: 27217339 Free PMC article.

7

Novel mutation in the SPG3A gene in an African American family with an early onset of hereditary spastic paraplegia.

Hedera P, Fenichel GM, Blair M, Haines JL. Hedera P, et al. Arch Neurol. 2004 Oct;61(10):1600-3. doi: 10.1001/archneur.61.10.1600. Arch Neurol. 2004. PMID: 15477516

8

A novel SPAST gene mutation identified in a Chinese family with hereditary spastic paraplegia.

Yu W, Jin H, Deng J, Nan D, Huang Y. Yu W, et al. BMC Med Genet. 2020 Jun 3;21(1):123. doi: 10.1186/s12881-020-01053-7. BMC Med Genet. 2020. PMID: 32493220 Free PMC article.

9

A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation.

Warnecke T, Duning T, Schwan A, Lohmann H, Epplen JT, Young P. Warnecke T, et al. Neurology. 2007 Jul 24;69(4):368-75. doi: 10.1212/01.wnl.0000266667.91074.fe. Neurology. 2007. PMID: 17646629

10

A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis.

Zivony-Elboum Y, Westbroek W, Kfir N, Savitzki D, Shoval Y, Bloom A, Rod R, Khayat M, Gross B, Samri W, Cohen H, Sonkin V, Freidman T, Geiger D, Fattal-Valevski A, Anikster Y, Waters AM, Kleta R, Falik-Zaccai TC. Zivony-Elboum Y, et al. J Med Genet. 2012 Jul;49(7):462-72. doi: 10.1136/jmedgenet-2012-100742. Epub 2012 Jun 20. J Med Genet. 2012. PMID: 22717650

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