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Similar articles for PubMed (Select 16884688)

1.

Mutations within the human GLYT2 (SLC6A5) gene associated with hyperekplexia.

Eulenburg V, Becker K, Gomeza J, Schmitt B, Becker CM, Betz H.

Biochem Biophys Res Commun. 2006 Sep 22;348(2):400-5. Epub 2006 Jul 26.

PMID:
16884688
2.

GLRB is the third major gene of effect in hyperekplexia.

Chung SK, Bode A, Cushion TD, Thomas RH, Hunt C, Wood SE, Pickrell WO, Drew CJ, Yamashita S, Shiang R, Leiz S, Longardt AC, Raile V, Weschke B, Puri RD, Verma IC, Harvey RJ, Ratnasinghe DD, Parker M, Rittey C, Masri A, Lingappa L, Howell OW, Vanbellinghen JF, Mullins JG, Lynch JW, Rees MI.

Hum Mol Genet. 2013 Mar 1;22(5):927-40. doi: 10.1093/hmg/dds498. Epub 2012 Nov 25. Erratum in: Hum Mol Genet. 2013 Jun 15;22(12):2552. Longhardt, Ann-Carolyn [corrected to Longardt, Ann-Carolyn].

3.

Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease.

Carta E, Chung SK, James VM, Robinson A, Gill JL, Remy N, Vanbellinghen JF, Drew CJ, Cagdas S, Cameron D, Cowan FM, Del Toro M, Graham GE, Manzur AY, Masri A, Rivera S, Scalais E, Shiang R, Sinclair K, Stuart CA, Tijssen MA, Wise G, Zuberi SM, Harvey K, Pearce BR, Topf M, Thomas RH, Supplisson S, Rees MI, Harvey RJ.

J Biol Chem. 2012 Aug 17;287(34):28975-85. doi: 10.1074/jbc.M112.372094. Epub 2012 Jun 14.

4.

Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia.

Chung SK, Vanbellinghen JF, Mullins JG, Robinson A, Hantke J, Hammond CL, Gilbert DF, Freilinger M, Ryan M, Kruer MC, Masri A, Gurses C, Ferrie C, Harvey K, Shiang R, Christodoulou J, Andermann F, Andermann E, Thomas RH, Harvey RJ, Lynch JW, Rees MI.

J Neurosci. 2010 Jul 14;30(28):9612-20. doi: 10.1523/JNEUROSCI.1763-10.2010.

5.

Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis.

Elmslie FV, Hutchings SM, Spencer V, Curtis A, Covanis T, Gardiner RM, Rees M.

J Med Genet. 1996 May;33(5):435-6.

6.

Hyperekplexia: a treatable neurogenetic disease.

Zhou L, Chillag KL, Nigro MA.

Brain Dev. 2002 Oct;24(7):669-74. Review.

PMID:
12427512
7.

Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease.

Rees MI, Harvey K, Pearce BR, Chung SK, Duguid IC, Thomas P, Beatty S, Graham GE, Armstrong L, Shiang R, Abbott KJ, Zuberi SM, Stephenson JB, Owen MJ, Tijssen MA, van den Maagdenberg AM, Smart TG, Supplisson S, Harvey RJ.

Nat Genet. 2006 Jul;38(7):801-6. Epub 2006 Jun 4.

8.

Hyperekplexia (startle disease): a novel mutation (S270T) in the M2 domain of the GLRA1 gene and a molecular review of the disorder.

Lapunzina P, Sánchez JM, Cabrera M, Moreno A, Delicado A, de Torres ML, Mori AM, Quero J, Lopez Pajares I.

Mol Diagn. 2003;7(2):125-8.

PMID:
14580232
9.

Startle disease in Irish wolfhounds associated with a microdeletion in the glycine transporter GlyT2 gene.

Gill JL, Capper D, Vanbellinghen JF, Chung SK, Higgins RJ, Rees MI, Shelton GD, Harvey RJ.

Neurobiol Dis. 2011 Jul;43(1):184-9. doi: 10.1016/j.nbd.2011.03.010. Epub 2011 Mar 17.

10.

[Molecular bases of hereditary hyperekplexia].

Giménez C, Zafra F, López-Corcuera B, Aragón C.

Rev Neurol. 2008 Dec 16-31;47(12):648-52. Review. Spanish.

11.

Molecular mechanisms of glycine transporter GlyT2 mutations in startle disease.

James VM, Gill JL, Topf M, Harvey RJ.

Biol Chem. 2012 Apr;393(4):283-9. doi: 10.1515/bc-2011-232. Review.

PMID:
22114948
12.

Novel mutation of GLRA1 in Omani families with hyperekplexia and mild mental retardation.

Al-Futaisi AM, Al-Kindi MN, Al-Mawali AM, Koul RL, Al-Adawi S, Al-Yahyaee SA.

Pediatr Neurol. 2012 Feb;46(2):89-93. doi: 10.1016/j.pediatrneurol.2011.11.008.

PMID:
22264702
13.

The genetics of hyperekplexia: more than startle!

Harvey RJ, Topf M, Harvey K, Rees MI.

Trends Genet. 2008 Sep;24(9):439-47. doi: 10.1016/j.tig.2008.06.005. Epub 2008 Aug 15. Review.

PMID:
18707791
14.

Compound heterozygosity and nonsense mutations in the alpha(1)-subunit of the inhibitory glycine receptor in hyperekplexia.

Rees MI, Lewis TM, Vafa B, Ferrie C, Corry P, Muntoni F, Jungbluth H, Stephenson JB, Kerr M, Snell RG, Schofield PR, Owen MJ.

Hum Genet. 2001 Sep;109(3):267-70.

PMID:
11702206
15.

Hyperekplexia: abnormal startle response due to glycine receptor mutations.

Andrew M, Owen MJ.

Br J Psychiatry. 1997 Feb;170:106-8. Review.

PMID:
9093496
16.

A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2.

Giménez C, Pérez-Siles G, Martínez-Villarreal J, Arribas-González E, Jiménez E, Núñez E, de Juan-Sanz J, Fernández-Sánchez E, García-Tardón N, Ibáñez I, Romanelli V, Nevado J, James VM, Topf M, Chung SK, Thomas RH, Desviat LR, Aragón C, Zafra F, Rees MI, Lapunzina P, Harvey RJ, López-Corcuera B.

J Biol Chem. 2012 Aug 17;287(34):28986-9002. doi: 10.1074/jbc.M111.319244. Epub 2012 Jun 29.

17.

Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease.

James VM, Bode A, Chung SK, Gill JL, Nielsen M, Cowan FM, Vujic M, Thomas RH, Rees MI, Harvey K, Keramidas A, Topf M, Ginjaar I, Lynch JW, Harvey RJ.

Neurobiol Dis. 2013 Apr;52:137-49. doi: 10.1016/j.nbd.2012.12.001. Epub 2012 Dec 10.

18.

Mutational analysis of familial and sporadic hyperekplexia.

Shiang R, Ryan SG, Zhu YZ, Fielder TJ, Allen RJ, Fryer A, Yamashita S, O'Connell P, Wasmuth JJ.

Ann Neurol. 1995 Jul;38(1):85-91.

PMID:
7611730
19.

Deletion of the mouse glycine transporter 2 results in a hyperekplexia phenotype and postnatal lethality.

Gomeza J, Ohno K, Hülsmann S, Armsen W, Eulenburg V, Richter DW, Laube B, Betz H.

Neuron. 2003 Nov 13;40(4):797-806.

20.
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