Similar articles for PMID: 8733061

Year	Number of Results
1980	1
1982	2
1983	1
1984	1
1991	2
1992	1
1993	4
1994	4
1995	6
1996	8
1997	7
1998	2
1999	4
2000	3
2001	3
2002	7
2003	3
2004	3
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2007	6
2008	6
2009	1
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2012	13
2013	6
2014	7
2015	4
2016	2
2017	8
2018	8
2019	6
2020	12
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2022	7
2024	0

1

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.

2

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. Lapunzina P, et al. Mol Diagn. 2003;7(2):125-8. doi: 10.1007/BF03260028. Mol Diagn. 2003. PMID: 14580232

3

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.

4

Hereditary hyperekplexia caused by novel mutations of GLRA1 in Turkish families.

Gilbert SL, Ozdag F, Ulas UH, Dobyns WB, Lahn BT. Gilbert SL, et al. Mol Diagn. 2004;8(3):151-5. doi: 10.1007/BF03260058. Mol Diagn. 2004. PMID: 15771552

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

A novel nonsense autosomal dominant mutation in the GLRA1 gene causing hyperekplexia.

Milenkovic I, Zimprich A, Gencik M, Platho-Elwischger K, Seidel S. Milenkovic I, et al. J Neural Transm (Vienna). 2018 Dec;125(12):1877-1883. doi: 10.1007/s00702-018-1924-y. Epub 2018 Sep 4. J Neural Transm (Vienna). 2018. PMID: 30182260

7

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.

8

A novel recessive hyperekplexia allele GLRA1 (S231R): genotyping by MALDI-TOF mass spectrometry and functional characterisation as a determinant of cellular glycine receptor trafficking.

Humeny A, Bonk T, Becker K, Jafari-Boroujerdi M, Stephani U, Reuter K, Becker CM. Humeny A, et al. Eur J Hum Genet. 2002 Mar;10(3):188-96. doi: 10.1038/sj.ejhg.5200779. Eur J Hum Genet. 2002. PMID: 11973623

9

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

10

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. Shiang R, et al. Ann Neurol. 1995 Jul;38(1):85-91. doi: 10.1002/ana.410380115. Ann Neurol. 1995. PMID: 7611730

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