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Results: 1 to 20 of 95

Select item 231532041.

The startle syndromes: physiology and treatment.

Dreissen YE, Tijssen MA.

Epilepsia. 2012 Dec;53 Suppl 7:3-11. doi: 10.1111/j.1528-1167.2012.03709.x. Review.

PMID:: 23153204; [PubMed - indexed for MEDLINE]

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Select item 231015552.

A novel syndrome of lethal familial hyperekplexia associated with brain malformation.

Seidahmed MZ, Salih MA, Abdulbasit OB, Shaheed M, Al Hussein K, Miqdad AM, Al Rasheed AK, Alazami AM, Alorainy IA, Alkuraya FS.

BMC Neurol. 2012 Oct 27;12:125. doi: 10.1186/1471-2377-12-125.

PMID:: 23101555; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 230063323.

4-Chloropropofol enhances chloride currents in human hyperekplexic and artificial mutated glycine receptors.

de la Roche J, Leuwer M, Krampfl K, Haeseler G, Dengler R, Buchholz V, Ahrens J.

BMC Neurol. 2012 Sep 24;12:104. doi: 10.1186/1471-2377-12-104.

PMID:: 23006332; [PubMed - indexed for MEDLINE]

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Select item 229959084.

The importance of TM3-4 loop subdomains for functional reconstitution of glycine receptors by independent domains.

Unterer B, Becker CM, Villmann C.

J Biol Chem. 2012 Nov 9;287(46):39205-15. doi: 10.1074/jbc.M112.376053. Epub 2012 Sep 20.

PMID:: 22995908; [PubMed - indexed for MEDLINE]

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Select item 227534175.

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. Epub 2012 Jun 29.

PMID:: 22753417; [PubMed - indexed for MEDLINE]

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Select item 227526926.

The representation of movement disorders in fictional literature.

Voss H.

J Neurol Neurosurg Psychiatry. 2012 Oct;83(10):994-9. doi: 10.1136/jnnp-2012-302716. Epub 2012 Jun 29. Review.

PMID:: 22752692; [PubMed - indexed for MEDLINE]

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Select item 227009647.

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. Epub 2012 Jun 14.

PMID:: 22700964; [PubMed - indexed for MEDLINE]

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Select item 224904258.

Stimulus-induced drop episodes in Coffin-Lowry syndrome.

Hahn JS, Hanauer A.

Eur J Med Genet. 2012 May;55(5):335-7. doi: 10.1016/j.ejmg.2012.03.004. Epub 2012 Mar 21. Review.

PMID:: 22490425; [PubMed - indexed for MEDLINE]

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Select item 222907649.

A new hyperekplexia family with a recessive frameshift mutation in the GLRA1 gene.

Zoons E, Ginjaar IB, Bouma PA, Carpay JA, Tijssen MA.

Mov Disord. 2012 May;27(6):795-6. doi: 10.1002/mds.24917. Epub 2012 Jan 30. No abstract available.

PMID:: 22290764; [PubMed - indexed for MEDLINE]

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Select item 2227921810.

The α1K276E startle disease mutation reveals multiple intermediate states in the gating of glycine receptors.

Lape R, Plested AJ, Moroni M, Colquhoun D, Sivilotti LG.

J Neurosci. 2012 Jan 25;32(4):1336-52. doi: 10.1523/JNEUROSCI.4346-11.2012.

PMID:: 22279218; [PubMed - indexed for MEDLINE]

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Select item 2227231011.

A MusD retrotransposon insertion in the mouse Slc6a5 gene causes alterations in neuromuscular junction maturation and behavioral phenotypes.

Bogdanik LP, Chapman HD, Miers KE, Serreze DV, Burgess RW.

PLoS One. 2012;7(1):e30217. doi: 10.1371/journal.pone.0030217. Epub 2012 Jan 17.

PMID:: 22272310; [PubMed - indexed for MEDLINE]

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Select item 2226774012.

Incompatibility between a pair of residues from the pre-M1 linker and Cys-loop blocks surface expression of the glycine receptor.

Shan Q, Lynch JW.

J Biol Chem. 2012 Mar 2;287(10):7535-42. doi: 10.1074/jbc.M111.325126. Epub 2012 Jan 20.

PMID:: 22267740; [PubMed - indexed for MEDLINE]

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Select item 2226470213.

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; [PubMed - indexed for MEDLINE]

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Select item 2213222214.

β Subunit M2-M3 loop conformational changes are uncoupled from α1 β glycine receptor channel gating: implications for human hereditary hyperekplexia.

Shan Q, Han L, Lynch JW.

PLoS One. 2011;6(11):e28105. doi: 10.1371/journal.pone.0028105. Epub 2011 Nov 22.

PMID:: 22132222; [PubMed - indexed for MEDLINE]

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Select item 2212233115.

Allosteric modulators can restore function in an amino acid neurotransmitter receptor by slightly altering intra-molecular communication pathways.

Nussinov R.

Br J Pharmacol. 2012 Apr;165(7):2110-2. doi: 10.1111/j.1476-5381.2011.01793.x.

PMID:: 22122331; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 2203303016.

Exaggerated startle reactions.

Dreissen YE, Bakker MJ, Koelman JH, Tijssen MA.

Clin Neurophysiol. 2012 Jan;123(1):34-44. doi: 10.1016/j.clinph.2011.09.022. Epub 2011 Oct 26. Review.

PMID:: 22033030; [PubMed - indexed for MEDLINE]

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Select item 2195516217.

Function of hyperekplexia-causing α1R271Q/L glycine receptors is restored by shifting the affected residue out of the allosteric signalling pathway.

Shan Q, Han L, Lynch JW.

Br J Pharmacol. 2012 Apr;165(7):2113-23. doi: 10.1111/j.1476-5381.2011.01701.x.

PMID:: 21955162; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 2183592018.

Contributions of conserved residues at the gating interface of glycine receptors.

Pless SA, Leung AW, Galpin JD, Ahern CA.

J Biol Chem. 2011 Oct 7;286(40):35129-36. doi: 10.1074/jbc.M111.269027. Epub 2011 Aug 11.

PMID:: 21835920; [PubMed - indexed for MEDLINE]

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Select item 2163336219.

Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy.

Shimojima K, Sugawara M, Shichiji M, Mukaida S, Takayama R, Imai K, Yamamoto T.

J Hum Genet. 2011 Aug;56(8):561-5. doi: 10.1038/jhg.2011.58. Epub 2011 Jun 2.

PMID:: 21633362; [PubMed - indexed for MEDLINE]

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Select item 2162654220.

Milestones in clinical neurophysiology.

Hallett M, Rothwell J.

Mov Disord. 2011 May;26(6):958-67. doi: 10.1002/mds.23572. Review.

PMID:: 21626542; [PubMed - indexed for MEDLINE]

Free PMC Article

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16 free full-text articles in PubMed Central

A novel syndrome of lethal familial hyperekplexia associated with brain malformation. [BMC Neurol. 2012]
A novel syndrome of lethal familial hyperekplexia associated with brain malformation.
Seidahmed MZ, Salih MA, Abdulbasit OB, Shaheed M, Al Hussein K, Miqdad AM, Al Rasheed AK, Alazami AM, Alorainy IA, Alkuraya FS. BMC Neurol. 2012 Oct 27; 12:125. Epub 2012 Oct 27.
4-Chloropropofol enhances chloride currents in human hyperekplexic and artificial mutated glycine receptors. [BMC Neurol. 2012]
4-Chloropropofol enhances chloride currents in human hyperekplexic and artificial mutated glycine receptors.
de la Roche J, Leuwer M, Krampfl K, Haeseler G, Dengler R, Buchholz V, Ahrens J. BMC Neurol. 2012 Sep 24; 12:104. Epub 2012 Sep 24.
A MusD retrotransposon insertion in the mouse Slc6a5 gene causes alterations in neuromuscular junction maturation and behavioral phenotypes. [PLoS One. 2012]
A MusD retrotransposon insertion in the mouse Slc6a5 gene causes alterations in neuromuscular junction maturation and behavioral phenotypes.
Bogdanik LP, Chapman HD, Miers KE, Serreze DV, Burgess RW. PLoS One. 2012; 7(1):e30217. Epub 2012 Jan 17.

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