PMC Links for Nucleotide (Select 1677501691) - PMC

Select item 64170781.

Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report

Teresa Sprovieri, Carmine Ungaro, Serena Sivo, Michela Quintiliani, Ilaria Contaldo, Chiara Veredice, Luigi Citrigno, Maria Muglia, Francesca Cavalcanti, Sebastiano Cavallaro, Eugenio Mercuri, Domenica Battaglia

BMC Med Genet. 2019; 20: 40. Published online 2019 Mar 12. doi: 10.1186/s12881-019-0779-x

PMCID:: PMC6417078

Abstract Article PDF–741K

Select item 61309642.

Multiple regions in the extracellular domain of the glycine receptor determine receptor activity

Bijun Tang, Sarah C. R. Lummis

J Biol Chem. 2018 Sep 7; 293(36): 13889–13896. Published online 2018 Jun 25. doi: 10.1074/jbc.RA118.003088

PMCID:: PMC6130964

Abstract Article PDF–2.0M

Select item 55897983.

Alpha subunit-dependent glycine receptor clustering and regulation of synaptic receptor numbers

A. Patrizio, M. Renner, R. Pizzarelli, A. Triller, C. G. Specht

Sci Rep. 2017; 7: 10899. Published online 2017 Sep 7. doi: 10.1038/s41598-017-11264-3

PMCID:: PMC5589798

Abstract Article PDF–3.3M

Select item 16829034.

Genetic and radiation hybrid mapping of the hyperekplexia region on chromosome 5q.

S G Ryan, M J Dixon, M A Nigro, K A Kelts, O N Markand, J C Terry, R Shiang, J J Wasmuth, P O'Connell

Am J Hum Genet. 1992 Dec; 51(6): 1334–1343.

PMCID:: PMC1682903

Summary Page Browse PDF–1.2M

Select item 5517355.

Alpha subunit variants of the human glycine receptor: primary structures, functional expression and chromosomal localization of the corresponding genes.

G Grenningloh, V Schmieden, P R Schofield, P H Seeburg, T Siddique, T K Mohandas, C M Becker, H Betz

EMBO J. 1990 Mar; 9(3): 771–776. doi: 10.1002/j.1460-2075.1990.tb08172.x

PMCID:: PMC551735

Summary Page Browse PDF–1.0M

Select item 68252216.

In silico re-engineering of a neurotransmitter to activate KCNQ potassium channels in an isoform-specific manner

Rían W. Manville, Geoffrey W. Abbott

Commun Biol. 2019; 2: 401. Published online 2019 Nov 1. doi: 10.1038/s42003-019-0648-3

PMCID:: PMC6825221

Abstract Article PDF–4.6M

Select item 56315337.

A novel compound mutation in GLRA1 cause hyperekplexia in a Chinese boy- a case report and review of the literature

Zhiliang Yang, Guilian Sun, Fang Yao, Dongying Tao, Binlu Zhu

BMC Med Genet. 2017; 18: 110. Published online 2017 Oct 6. doi: 10.1186/s12881-017-0476-6

PMCID:: PMC5631533

Abstract Article PDF–950K

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