PubMed (OMIM) for id: 5582

Year	Number of Results
1986	1
1988	1
1990	1
1993	1
1997	1
1998	1
1999	1
2000	1
2001	1
2002	1
2003	4
2004	3
2005	5
2006	1
2007	1
2009	1
2011	1
2012	1
2024	0

1

Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases.

Sailer A, Scholz SW, Gibbs JR, Tucci A, Johnson JO, Wood NW, Plagnol V, Hummerich H, Ding J, Hernandez D, Hardy J, Federoff HJ, Traynor BJ, Singleton AB, Houlden H. Sailer A, et al. Neurology. 2012 Jul 10;79(2):127-31. doi: 10.1212/WNL.0b013e31825f048e. Epub 2012 Jun 6. Neurology. 2012. PMID: 22675081 Free PMC article.

2

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

Najmabadi H, Hu H, Garshasbi M, Zemojtel T, Abedini SS, Chen W, Hosseini M, Behjati F, Haas S, Jamali P, Zecha A, Mohseni M, Püttmann L, Vahid LN, Jensen C, Moheb LA, Bienek M, Larti F, Mueller I, Weissmann R, Darvish H, Wrogemann K, Hadavi V, Lipkowitz B, Esmaeeli-Nieh S, Wieczorek D, Kariminejad R, Firouzabadi SG, Cohen M, Fattahi Z, Rost I, Mojahedi F, Hertzberg C, Dehghan A, Rajab A, Banavandi MJ, Hoffer J, Falah M, Musante L, Kalscheuer V, Ullmann R, Kuss AW, Tzschach A, Kahrizi K, Ropers HH. Najmabadi H, et al. Nature. 2011 Sep 21;478(7367):57-63. doi: 10.1038/nature10423. Nature. 2011. PMID: 21937992

3

Protein kinase C gamma, a protein causative for dominant ataxia, negatively regulates nuclear import of recessive-ataxia-related aprataxin.

Asai H, Hirano M, Shimada K, Kiriyama T, Furiya Y, Ikeda M, Iwamoto T, Mori T, Nishinaka K, Konishi N, Udaka F, Ueno S. Asai H, et al. Hum Mol Genet. 2009 Oct 1;18(19):3533-43. doi: 10.1093/hmg/ddp298. Epub 2009 Jun 26. Hum Mol Genet. 2009. PMID: 19561170

4

Another mutation in cysteine 131 in protein kinase C gamma as a cause of spinocerebellar ataxia type 14.

Klebe S, Faivre L, Forlani S, Dussert C, Tourbah A, Brice A, Stevanin G, Durr A. Klebe S, et al. Arch Neurol. 2007 Jun;64(6):913-4. doi: 10.1001/archneur.64.6.913. Arch Neurol. 2007. PMID: 17562946 No abstract available.

5

A Japanese case of SCA14 with the Gly128Asp mutation.

Morita H, Yoshida K, Suzuki K, Ikeda SI. Morita H, et al. J Hum Genet. 2006;51(12):1118-1121. doi: 10.1007/s10038-006-0063-8. Epub 2006 Sep 22. J Hum Genet. 2006. PMID: 17024314

6

New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14.

Klebe S, Durr A, Rentschler A, Hahn-Barma V, Abele M, Bouslam N, Schöls L, Jedynak P, Forlani S, Denis E, Dussert C, Agid Y, Bauer P, Globas C, Wüllner U, Brice A, Riess O, Stevanin G. Klebe S, et al. Ann Neurol. 2005 Nov;58(5):720-9. doi: 10.1002/ana.20628. Ann Neurol. 2005. PMID: 16193476

7

A novel H101Q mutation causes PKCgamma loss in spinocerebellar ataxia type 14.

Alonso I, Costa C, Gomes A, Ferro A, Seixas AI, Silva S, Cruz VT, Coutinho P, Sequeiros J, Silveira I. Alonso I, et al. J Hum Genet. 2005;50(10):523-529. doi: 10.1007/s10038-005-0287-z. Epub 2005 Sep 28. J Hum Genet. 2005. PMID: 16189624

8

Gly118Asp is a SCA14 founder mutation in the Dutch ataxia population.

Verbeek DS, Warrenburg BP, Hennekam FA, Dooijes D, Ippel PF, Verschuuren-Bemelmans CC, Kremer HP, Sinke RJ. Verbeek DS, et al. Hum Genet. 2005 Jun;117(1):88-91. doi: 10.1007/s00439-005-1278-z. Epub 2005 Apr 20. Hum Genet. 2005. PMID: 15841389

9

The clinical and genetic spectrum of spinocerebellar ataxia 14.

Chen DH, Cimino PJ, Ranum LP, Zoghbi HY, Yabe I, Schut L, Margolis RL, Lipe HP, Feleke A, Matsushita M, Wolff J, Morgan C, Lau D, Fernandez M, Sasaki H, Raskind WH, Bird TD. Chen DH, et al. Neurology. 2005 Apr 12;64(7):1258-60. doi: 10.1212/01.WNL.0000156801.64549.6B. Neurology. 2005. PMID: 15824357

10

Protein kinase C gamma mutations in spinocerebellar ataxia 14 increase kinase activity and alter membrane targeting.

Verbeek DS, Knight MA, Harmison GG, Fischbeck KH, Howell BW. Verbeek DS, et al. Brain. 2005 Feb;128(Pt 2):436-42. doi: 10.1093/brain/awh378. Epub 2004 Dec 23. Brain. 2005. PMID: 15618281

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