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Items: 12


Structural and regulatory mutations in Vibrio parahaemolyticus type III secretion systems display variable effects on virulence.

Calder T, de Souza Santos M, Attah V, Klimko J, Fernandez J, Salomon D, Krachler AM, Orth K.

FEMS Microbiol Lett. 2014 Dec;361(2):107-14. doi: 10.1111/1574-6968.12619.


A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.

Chung S, Low SK, Zembutsu H, Takahashi A, Kubo M, Sasa M, Nakamura Y.

Breast Cancer Res. 2013;15(5):R81.


The quest for juvenile myoclonic epilepsy genes.

Delgado-Escueta AV, Koeleman BP, Bailey JN, Medina MT, Durón RM.

Epilepsy Behav. 2013 Jul;28 Suppl 1:S52-7. doi: 10.1016/j.yebeh.2012.06.033. Review.


Nuclear life of the voltage-gated Cacnb4 subunit and its role in gene transcription regulation.

Ronjat M, Kiyonaka S, Barbado M, De Waard M, Mori Y.

Channels (Austin). 2013 Mar-Apr;7(2):119-25. doi: 10.4161/chan.23895.


Cacnb4 directly couples electrical activity to gene expression, a process defective in juvenile epilepsy.

Tadmouri A, Kiyonaka S, Barbado M, Rousset M, Fablet K, Sawamura S, Bahembera E, Pernet-Gallay K, Arnoult C, Miki T, Sadoul K, Gory-Faure S, Lambrecht C, Lesage F, Akiyama S, Khochbin S, Baulande S, Janssens V, Andrieux A, Dolmetsch R, Ronjat M, Mori Y, De Waard M.

EMBO J. 2012 Sep 12;31(18):3730-44. doi: 10.1038/emboj.2012.226.


Familial form of typical childhood absence epilepsy in a consanguineous context.

Abouda H, Hizem Y, Gargouri A, Depienne C, Bouteiller D, Riant F, Tournier-Lasserve E, Gourfinkel-An I, LeGuern E, Gouider R.

Epilepsia. 2010 Sep;51(9):1889-93. doi: 10.1111/j.1528-1167.2010.02649.x.


Genetic linkage study of an autosomal recessive form of juvenile myoclonic epilepsy in a consanguineous Tunisian family.

Layouni S, Salzmann A, Guipponi M, Mouthon D, Chouchane L, Dogui M, Malafosse A.

Epilepsy Res. 2010 Jun;90(1-2):33-8. doi: 10.1016/j.eplepsyres.2010.03.004.


Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2.

Mantuano E, Romano S, Veneziano L, Gellera C, Castellotti B, Caimi S, Testa D, Estienne M, Zorzi G, Bugiani M, Rajabally YA, Barcina MJ, Servidei S, Panico A, Frontali M, Mariotti C.

J Neurol Sci. 2010 Apr 15;291(1-2):30-6. doi: 10.1016/j.jns.2010.01.010.


A CACNB4 mutation shows that altered Ca(v)2.1 function may be a genetic modifier of severe myoclonic epilepsy in infancy.

Ohmori I, Ouchida M, Miki T, Mimaki N, Kiyonaka S, Nishiki T, Tomizawa K, Mori Y, Matsui H.

Neurobiol Dis. 2008 Dec;32(3):349-54. doi: 10.1016/j.nbd.2008.07.017.


Episodic ataxia: SLC1A3 and CACNB4 do not explain the apparent genetic heterogeneity.

Graves TD, Hanna MG.

J Neurol. 2008 Jul;255(7):1097-9. doi: 10.1007/s00415-008-0844-4. No abstract available.


Ca2+ channel-independent requirement for MAGUK family CACNB4 genes in initiation of zebrafish epiboly.

Ebert AM, McAnelly CA, Srinivasan A, Linker JL, Horne WA, Garrity DM.

Proc Natl Acad Sci U S A. 2008 Jan 8;105(1):198-203. doi: 10.1073/pnas.0707948105.

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