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Items: 1 to 20 of 196

1.

Identification of a de novo Lys304Gln mutation in the glycine receptor alpha-1 subunit gene in a Korean infant with hyperekplexia.

Kang HC, Jeong You S, Jae Chey M, Sam Baik J, Kim JW, Ki CS.

Mov Disord. 2008 Mar 15;23(4):610-3. doi: 10.1002/mds.21909.

PMID:
18175347
2.

Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia.

Shiang R, Ryan SG, Zhu YZ, Hahn AF, O'Connell P, Wasmuth JJ.

Nat Genet. 1993 Dec;5(4):351-8.

PMID:
8298642
3.

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
4.

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
5.
6.

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.

7.

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
8.

A missense mutation in the gene encoding the alpha 1 subunit of the inhibitory glycine receptor in the spasmodic mouse.

Ryan SG, Buckwalter MS, Lynch JW, Handford CA, Segura L, Shiang R, Wasmuth JJ, Camper SA, Schofield P, O'Connell P.

Nat Genet. 1994 Jun;7(2):131-5.

PMID:
7920629
9.

A mutation (V260M) in the middle of the M2 pore-lining domain of the glycine receptor causes hereditary hyperekplexia.

del Giudice EM, Coppola G, Bellini G, Cirillo G, Scuccimarra G, Pascotto A.

Eur J Hum Genet. 2001 Nov;9(11):873-6.

10.

A novel mutation (Gln266-->His) in the alpha 1 subunit of the inhibitory glycine-receptor gene (GLRA1) in hereditary hyperekplexia.

Milani N, Dalprá L, del Prete A, Zanini R, Larizza L.

Am J Hum Genet. 1996 Feb;58(2):420-2. No abstract available.

11.

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
12.

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
13.

Major and minor form of hereditary hyperekplexia.

Tijssen MA, Vergouwe MN, van Dijk JG, Rees M, Frants RR, Brown P.

Mov Disord. 2002 Jul;17(4):826-30.

PMID:
12210885
14.

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
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.

Hyperekplexia: a treatable neurogenetic disease.

Zhou L, Chillag KL, Nigro MA.

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

PMID:
12427512
17.

Two Japanese families with hyperekplexia who have a Arg271Gln mutation in the glycine receptor alpha 1 subunit gene.

Kimura M, Taketani T, Horie A, Isumi H, Sejima H, Yamaguchi S.

Brain Dev. 2006 May;28(4):228-31. Epub 2006 Feb 14.

PMID:
16478653
18.

Increased startle responses in mice carrying mutations of glycine receptor subunit genes.

Koch M, Kling C, Becker CM.

Neuroreport. 1996 Feb 29;7(3):806-8.

PMID:
8733750
19.

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
20.

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

Gilbert SL, Ozdag F, Ulas UH, Dobyns WB, Lahn BT.

Mol Diagn. 2004;8(3):151-5.

PMID:
15771552

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