Kubisch C - Search Results

1

Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism.

Park JS, Mehta P, Cooper AA, Veivers D, Heimbach A, Stiller B, Kubisch C, Fung VS, Krainc D, Mackay-Sim A, Sue CM. Park JS, et al. Among authors: kubisch c. Hum Mutat. 2011 Aug;32(8):956-64. doi: 10.1002/humu.21527. Epub 2011 Jul 12. Hum Mutat. 2011. PMID: 21542062

2

Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase.

Ramirez A, Heimbach A, Gründemann J, Stiller B, Hampshire D, Cid LP, Goebel I, Mubaidin AF, Wriekat AL, Roeper J, Al-Din A, Hillmer AM, Karsak M, Liss B, Woods CG, Behrens MI, Kubisch C. Ramirez A, et al. Among authors: kubisch c. Nat Genet. 2006 Oct;38(10):1184-91. doi: 10.1038/ng1884. Epub 2006 Sep 10. Nat Genet. 2006. PMID: 16964263

3

Genetic association study of the P-type ATPase ATP13A2 in late-onset Parkinson's disease.

Rakovic A, Stiller B, Djarmati A, Flaquer A, Freudenberg J, Toliat MR, Linnebank M, Kostic V, Lohmann K, Paus S, Nürnberg P, Kubisch C, Klein C, Wüllner U, Ramirez A. Rakovic A, et al. Among authors: kubisch c. Mov Disord. 2009 Feb 15;24(3):429-33. doi: 10.1002/mds.22399. Mov Disord. 2009. PMID: 19097176 Free article.

4

Increased copper toxicity in Saccharomyces cerevisiae lacking VPS35, a component of the retromer and monogenic Parkinson disease gene in humans.

Sowada N, Stiller B, Kubisch C. Sowada N, et al. Among authors: kubisch c. Biochem Biophys Res Commun. 2016 Aug 5;476(4):528-533. doi: 10.1016/j.bbrc.2016.05.157. Epub 2016 Jun 1. Biochem Biophys Res Commun. 2016. PMID: 27262440

5

A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss.

von Ameln S, Wang G, Boulouiz R, Rutherford MA, Smith GM, Li Y, Pogoda HM, Nürnberg G, Stiller B, Volk AE, Borck G, Hong JS, Goodyear RJ, Abidi O, Nürnberg P, Hofmann K, Richardson GP, Hammerschmidt M, Moser T, Wollnik B, Koehler CM, Teitell MA, Barakat A, Kubisch C. von Ameln S, et al. Among authors: kubisch c. Am J Hum Genet. 2012 Nov 2;91(5):919-27. doi: 10.1016/j.ajhg.2012.09.002. Epub 2012 Oct 18. Am J Hum Genet. 2012. PMID: 23084290 Free PMC article.

6

Mutant Atp13a2 proteins involved in parkinsonism are degraded by ER-associated degradation and sensitize cells to ER-stress induced cell death.

Ugolino J, Fang S, Kubisch C, Monteiro MJ. Ugolino J, et al. Among authors: kubisch c. Hum Mol Genet. 2011 Sep 15;20(18):3565-77. doi: 10.1093/hmg/ddr274. Epub 2011 Jun 10. Hum Mol Genet. 2011. PMID: 21665991 Free PMC article.

7

Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations.

Behrens MI, Brüggemann N, Chana P, Venegas P, Kägi M, Parrao T, Orellana P, Garrido C, Rojas CV, Hauke J, Hahnen E, González R, Seleme N, Fernández V, Schmidt A, Binkofski F, Kömpf D, Kubisch C, Hagenah J, Klein C, Ramirez A. Behrens MI, et al. Among authors: kubisch c. Mov Disord. 2010 Sep 15;25(12):1929-37. doi: 10.1002/mds.22996. Mov Disord. 2010. PMID: 20683840

8

A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction.

Fazeli W, Herkenrath P, Stiller B, Neugebauer A, Fricke J, Lang-Roth R, Nürnberg G, Thoenes M, Becker J, Altmüller J, Volk AE, Kubisch C, Heller R. Fazeli W, et al. Among authors: kubisch c. Hum Mol Genet. 2017 Oct 15;26(20):4055-4066. doi: 10.1093/hmg/ddx296. Hum Mol Genet. 2017. PMID: 29016863

9

Rare missense variants in ATP1A2 in families with clustering of common forms of migraine.

Todt U, Dichgans M, Jurkat-Rott K, Heinze A, Zifarelli G, Koenderink JB, Goebel I, Zumbroich V, Stiller A, Ramirez A, Friedrich T, Göbel H, Kubisch C. Todt U, et al. Among authors: kubisch c. Hum Mutat. 2005 Oct;26(4):315-21. doi: 10.1002/humu.20229. Hum Mutat. 2005. PMID: 16110494

10

A rare heterozygous TREM2 coding variant identified in familial clustering of dementia affects an intrinsically disordered protein region and function of TREM2.

Karsak M, Glebov K, Scheffold M, Bajaj T, Kawalia A, Karaca I, Rading S, Kornhuber J, Peters O, Diez-Fairen M, Frölich L, Hüll M, Wiltfang J, Scherer M, Riedel-Heller S, Schneider A, Heneka MT, Fliessbach K, Sharaf A, Thiele H, Lennarz M, Jessen F, Maier W, Kubisch C, Ignatova Z, Nürnberg P, Pastor P, Walter J, Ramirez A. Karsak M, et al. Among authors: kubisch c. Hum Mutat. 2020 Jan;41(1):169-181. doi: 10.1002/humu.23904. Epub 2019 Sep 15. Hum Mutat. 2020. PMID: 31464095

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