Similar articles for PMID: 20631190

Year	Number of Results
1991	1
1992	1
1993	1
1994	3
1996	6
1997	5
1998	1
1999	3
2000	3
2001	3
2002	7
2003	3
2004	5
2005	3
2006	6
2007	5
2008	6
2009	1
2010	2
2011	3
2012	10
2013	8
2014	6
2015	2
2016	4
2017	6
2018	5
2019	6
2020	9
2021	4
2022	9
2023	1
2024	0

1

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. Chung SK, et al. J Neurosci. 2010 Jul 14;30(28):9612-20. doi: 10.1523/JNEUROSCI.1763-10.2010. J Neurosci. 2010. PMID: 20631190 Free PMC article.

2

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. James VM, et al. Neurobiol Dis. 2013 Apr;52:137-49. doi: 10.1016/j.nbd.2012.12.001. Epub 2012 Dec 10. Neurobiol Dis. 2013. PMID: 23238346 Free PMC article.

3

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. Chung SK, et al. Hum Mol Genet. 2013 Mar 1;22(5):927-40. doi: 10.1093/hmg/dds498. Epub 2012 Nov 25. Hum Mol Genet. 2013. PMID: 23184146

4

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. Rees MI, et al. Hum Genet. 2001 Sep;109(3):267-70. doi: 10.1007/s004390100569. Hum Genet. 2001. PMID: 11702206

5

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. Al-Futaisi AM, et al. Pediatr Neurol. 2012 Feb;46(2):89-93. doi: 10.1016/j.pediatrneurol.2011.11.008. Pediatr Neurol. 2012. PMID: 22264702

6

The genetics of hyperekplexia: more than startle!

Harvey RJ, Topf M, Harvey K, Rees MI. Harvey RJ, et al. Trends Genet. 2008 Sep;24(9):439-47. doi: 10.1016/j.tig.2008.06.005. Epub 2008 Aug 15. Trends Genet. 2008. PMID: 18707791 Review.

7

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. Elmslie FV, et al. J Med Genet. 1996 May;33(5):435-6. doi: 10.1136/jmg.33.5.435. J Med Genet. 1996. PMID: 8733061 Free PMC article.

8

Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay.

Thomas RH, Chung SK, Wood SE, Cushion TD, Drew CJ, Hammond CL, Vanbellinghen JF, Mullins JG, Rees MI. Thomas RH, et al. Brain. 2013 Oct;136(Pt 10):3085-95. doi: 10.1093/brain/awt207. Epub 2013 Sep 11. Brain. 2013. PMID: 24030948

9

A Missense Mutation A384P Associated with Human Hyperekplexia Reveals a Desensitization Site of Glycine Receptors.

Wang CH, Hernandez CC, Wu J, Zhou N, Hsu HY, Shen ML, Wang YC, Macdonald RL, Wu DC. Wang CH, et al. J Neurosci. 2018 Mar 14;38(11):2818-2831. doi: 10.1523/JNEUROSCI.0674-16.2018. Epub 2018 Feb 13. J Neurosci. 2018. PMID: 29440552 Free PMC article.

10

Hyperekplexia: a treatable neurogenetic disease.

Zhou L, Chillag KL, Nigro MA. Zhou L, et al. Brain Dev. 2002 Oct;24(7):669-74. doi: 10.1016/s0387-7604(02)00095-5. Brain Dev. 2002. PMID: 12427512 Review.

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