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Items: 1 to 20 of 111

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.

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

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.

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

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.

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

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.

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

PMID:
11702206
5.

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.

Brain. 2013 Oct;136(Pt 10):3085-95. doi: 10.1093/brain/awt207.

PMID:
24030948
6.

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. Review.

PMID:
18707791
7.

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
8.

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.

9.

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.

10.

A novel GLRA1 mutation associated with an atypical hyperekplexia phenotype.

Gregory ML, Guzauskas GF, Edgar TS, Clarkson KB, Srivastava AK, Holden KR.

J Child Neurol. 2008 Dec;23(12):1433-8. doi: 10.1177/0883073808320754.

PMID:
19073849
11.

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.

12.

New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.

Bode A, Wood SE, Mullins JG, Keramidas A, Cushion TD, Thomas RH, Pickrell WO, Drew CJ, Masri A, Jones EA, Vassallo G, Born AP, Alehan F, Aharoni S, Bannasch G, Bartsch M, Kara B, Krause A, Karam EG, Matta S, Jain V, Mandel H, Freilinger M, Graham GE, Hobson E, Chatfield S, Vincent-Delorme C, Rahme JE, Afawi Z, Berkovic SF, Howell OW, Vanbellinghen JF, Rees MI, Chung SK, Lynch JW.

J Biol Chem. 2013 Nov 22;288(47):33745-59. doi: 10.1074/jbc.M113.509240.

13.

Hyperekplexia phenotype due to compound heterozygosity for GLRA1 gene mutations.

Vergouwe MN, Tijssen MA, Peters AC, Wielaard R, Frants RR.

Ann Neurol. 1999 Oct;46(4):634-8.

PMID:
10514101
14.

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.

PMID:
16884688
15.

Hyperekplexia: a treatable neurogenetic disease.

Zhou L, Chillag KL, Nigro MA.

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

PMID:
12427512
16.

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.

17.

Hyperekplexia-like syndromes without mutations in the GLRA1 gene.

Vergouwe MN, Tijssen MA, Shiang R, van Dijk JG, al Shahwan S, Ophoff RA, Frants RR.

Clin Neurol Neurosurg. 1997 Aug;99(3):172-8.

PMID:
9350397
18.

Hyperekplexia: abnormal startle response due to glycine receptor mutations.

Andrew M, Owen MJ.

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

PMID:
9093496
19.

Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB).

Rees MI, Lewis TM, Kwok JB, Mortier GR, Govaert P, Snell RG, Schofield PR, Owen MJ.

Hum Mol Genet. 2002 Apr 1;11(7):853-60.

PMID:
11929858
20.

Hyperekplexia phenotype of glycine receptor alpha1 subunit mutant mice identifies Zn(2+) as an essential endogenous modulator of glycinergic neurotransmission.

Hirzel K, Müller U, Latal AT, Hülsmann S, Grudzinska J, Seeliger MW, Betz H, Laube B.

Neuron. 2006 Nov 22;52(4):679-90.

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