Format
Sort by

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 38

1.

Therapeutic Approaches to Genetic Ion Channelopathies and Perspectives in Drug Discovery.

Imbrici P, Liantonio A, Camerino GM, De Bellis M, Camerino C, Mele A, Giustino A, Pierno S, De Luca A, Tricarico D, Desaphy JF, Conte D.

Front Pharmacol. 2016 May 10;7:121. doi: 10.3389/fphar.2016.00121. eCollection 2016. Review.

2.

Genetic neurological channelopathies: molecular genetics and clinical phenotypes.

Spillane J, Kullmann DM, Hanna MG.

J Neurol Neurosurg Psychiatry. 2016 Jan;87(1):37-48. doi: 10.1136/jnnp-2015-311233. Epub 2015 Nov 11. Review.

3.

Genetic variation and the de novo assembly of human genomes.

Chaisson MJ, Wilson RK, Eichler EE.

Nat Rev Genet. 2015 Nov;16(11):627-40. doi: 10.1038/nrg3933. Epub 2015 Oct 7. Review.

4.

The clinical and genetic features in a cohort of mainland Chinese patients with thyrotoxic periodic paralysis.

Li X, Yao S, Xiang Y, Zhang X, Wu X, Luo L, Huang H, Zhu M, Wan H, Hong D.

BMC Neurol. 2015 Mar 21;15:38. doi: 10.1186/s12883-015-0290-8.

5.

Rare KCNJ18 variants do not explain hypokalaemic periodic paralysis in 263 unrelated patients.

Kuhn M, Jurkat-Rott K, Lehmann-Horn F.

J Neurol Neurosurg Psychiatry. 2016 Jan;87(1):49-52. doi: 10.1136/jnnp-2014-309293. Epub 2015 Apr 16.

6.

Channelopathies of skeletal muscle excitability.

Cannon SC.

Compr Physiol. 2015 Apr;5(2):761-90. doi: 10.1002/cphy.c140062. Review.

7.

Normokalemic thyrotoxic periodic paralysis with preserved reflexes- a unique case report.

Chakrabarti S.

J Clin Diagn Res. 2015 Feb;9(2):OD05-6. doi: 10.7860/JCDR/2015/11034.5538. Epub 2015 Feb 1.

8.

Thyrotoxic hypokalemic periodic paralysis in an African male: a case report.

Belayneh DK, Kellerth T.

Clin Case Rep. 2015 Feb;3(2):102-5. doi: 10.1002/ccr3.165. Epub 2014 Nov 17.

9.

The Release 6 reference sequence of the Drosophila melanogaster genome.

Hoskins RA, Carlson JW, Wan KH, Park S, Mendez I, Galle SE, Booth BW, Pfeiffer BD, George RA, Svirskas R, Krzywinski M, Schein J, Accardo MC, Damia E, Messina G, Méndez-Lago M, de Pablos B, Demakova OV, Andreyeva EN, Boldyreva LV, Marra M, Carvalho AB, Dimitri P, Villasante A, Zhimulev IF, Rubin GM, Karpen GH, Celniker SE.

Genome Res. 2015 Mar;25(3):445-58. doi: 10.1101/gr.185579.114. Epub 2015 Jan 14.

10.

Single haplotype assembly of the human genome from a hydatidiform mole.

Steinberg KM, Schneider VA, Graves-Lindsay TA, Fulton RS, Agarwala R, Huddleston J, Shiryev SA, Morgulis A, Surti U, Warren WC, Church DM, Eichler EE, Wilson RK.

Genome Res. 2014 Dec;24(12):2066-76. doi: 10.1101/gr.180893.114. Epub 2014 Nov 4.

11.

Phosphoinositides regulate ion channels.

Hille B, Dickson EJ, Kruse M, Vivas O, Suh BC.

Biochim Biophys Acta. 2015 Jun;1851(6):844-56. doi: 10.1016/j.bbalip.2014.09.010. Epub 2014 Sep 18. Review.

12.

Molecular cloning of ion channels in Felis catus that are related to periodic paralyses in man: a contribution to the understanding of the genetic susceptibility to feline neck ventroflexion and paralysis.

Zapata M, Kunii IS, Paninka RM, Simões DM, Castillo VA, Reche A Jr, Maciel RM, Dias da Silva MR.

Biol Open. 2014 Jul 25;3(9):785-93. doi: 10.1242/bio.20148003.

13.

Thyrotoxic hypokalaemic periodic paralysis: a rare presentation of Graves' disease in a Hispanic patient.

Matta A, Koppala J, Gossman W.

BMJ Case Rep. 2014 Apr 9;2014. pii: bcr2014204198. doi: 10.1136/bcr-2014-204198.

14.

Thyrotoxic periodic paralysis: clinical challenges.

Vijayakumar A, Ashwath G, Thimmappa D.

J Thyroid Res. 2014;2014:649502. doi: 10.1155/2014/649502. Epub 2014 Feb 20. Review.

15.

The past, present, and future of human centromere genomics.

Aldrup-Macdonald ME, Sullivan BA.

Genes (Basel). 2014 Jan 24;5(1):33-50.

16.

Channelopathies.

Kim JB.

Korean J Pediatr. 2014 Jan;57(1):1-18. doi: 10.3345/kjp.2014.57.1.1. Epub 2014 Jan 31. Review.

17.

Muscle channelopathies: the nondystrophic myotonias and periodic paralyses.

Statland JM, Barohn RJ.

Continuum (Minneap Minn). 2013 Dec;19(6 Muscle Disease):1598-614. doi: 10.1212/01.CON.0000440661.49298.c8. Review.

18.

Autoantibodies to neurotransmitter receptors and ion channels: from neuromuscular to neuropsychiatric disorders.

Martinez-Martinez P, Molenaar PC, Losen M, Stevens J, Baets MH, Szoke A, Honnorat J, Tamouza R, Leboyer M, Os JV, Rutten BP.

Front Genet. 2013 Sep 20;4:181. doi: 10.3389/fgene.2013.00181. Review.

19.

Extracellular potassium homeostasis: insights from hypokalemic periodic paralysis.

Cheng CJ, Kuo E, Huang CL.

Semin Nephrol. 2013 May;33(3):237-47. doi: 10.1016/j.semnephrol.2013.04.004. Review.

20.

A 10-year analysis of thyrotoxic periodic paralysis in 135 patients: focus on symptomatology and precipitants.

Chang CC, Cheng CJ, Sung CC, Chiueh TS, Lee CH, Chau T, Lin SH.

Eur J Endocrinol. 2013 Oct 1;169(5):529-36. doi: 10.1530/EJE-13-0381. Print 2013 Nov.

Items per page

Supplemental Content

Write to the Help Desk