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See Gene information for glra1 gphn

glra1 in Homo sapiens (2)Mus musculus (2)Rattus norvegicus (2)All 272 Gene records

gphn in Homo sapiens (2)Mus musculus (2)Rattus norvegicus (2)All 257 Gene records

Search results

Items: 6

1.

Glycine receptor mouse mutants: model systems for human hyperekplexia.

Schaefer N, Langlhofer G, Kluck CJ, Villmann C.

Br J Pharmacol. 2013 Nov;170(5):933-52. doi: 10.1111/bph.12335. Review.

2.

Hyperekplexia.

Tijssen MAJ, Rees MI.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2007 Jul 31 [updated 2012 Oct 4].

3.

Clinical features and genetic analysis of children with hyperekplexia in Korea.

Lee CG, Kwon MJ, Yu HJ, Nam SH, Lee J, Ki CS, Lee M.

J Child Neurol. 2013 Jan;28(1):90-4. doi: 10.1177/0883073812441058. Epub 2012 Apr 24.

PMID:
22532536
4.

The glycinergic system in human startle disease: a genetic screening approach.

Davies JS, Chung SK, Thomas RH, Robinson A, Hammond CL, Mullins JG, Carta E, Pearce BR, Harvey K, Harvey RJ, Rees MI.

Front Mol Neurosci. 2010 Mar 23;3:8. doi: 10.3389/fnmol.2010.00008. eCollection 2010.

5.

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.

6.

Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexia.

Rees MI, Harvey K, Ward H, White JH, Evans L, Duguid IC, Hsu CC, Coleman SL, Miller J, Baer K, Waldvogel HJ, Gibbon F, Smart TG, Owen MJ, Harvey RJ, Snell RG.

J Biol Chem. 2003 Jul 4;278(27):24688-96. Epub 2003 Apr 8.

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