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Items: 1 to 20 of 95

1.

RBFOX1 and RBFOX3 mutations in rolandic epilepsy.

Lal D, Reinthaler EM, Altmüller J, Toliat MR, Thiele H, Nürnberg P, Lerche H, Hahn A, Møller RS, Muhle H, Sander T, Zimprich F, Neubauer BA.

PLoS One. 2013 Sep 6;8(9):e73323. doi: 10.1371/journal.pone.0073323. eCollection 2013.

2.

Extending the phenotypic spectrum of RBFOX1 deletions: Sporadic focal epilepsy.

Lal D, Pernhorst K, Klein KM, Reif P, Tozzi R, Toliat MR, Winterer G, Neubauer B, Nürnberg P, Rosenow F, Becker F, Lerche H, Kunz WS, Kurki MI, Hoffmann P, Becker AJ, Perucca E, Zara F, Sander T, Weber YG.

Epilepsia. 2015 Sep;56(9):e129-33. doi: 10.1111/epi.13076. Epub 2015 Jul 15.

3.

Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy.

Lal D, Trucks H, Møller RS, Hjalgrim H, Koeleman BP, de Kovel CG, Visscher F, Weber YG, Lerche H, Becker F, Schankin CJ, Neubauer BA, Surges R, Kunz WS, Zimprich F, Franke A, Illig T, Ried JS, Leu C, Nürnberg P, Sander T; EMINet Consortium.; EPICURE Consortium..

Epilepsia. 2013 Feb;54(2):265-71. doi: 10.1111/epi.12084. Epub 2013 Jan 25.

4.

NeuN/Rbfox3 nuclear and cytoplasmic isoforms differentially regulate alternative splicing and nonsense-mediated decay of Rbfox2.

Dredge BK, Jensen KB.

PLoS One. 2011;6(6):e21585. doi: 10.1371/journal.pone.0021585. Epub 2011 Jun 29.

5.

The splicing regulator Rbfox2 is required for both cerebellar development and mature motor function.

Gehman LT, Meera P, Stoilov P, Shiue L, O'Brien JE, Meisler MH, Ares M Jr, Otis TS, Black DL.

Genes Dev. 2012 Mar 1;26(5):445-60. doi: 10.1101/gad.182477.111. Epub 2012 Feb 22.

6.

Upregulation of RBFOX1 in the malformed cortex of patients with intractable epilepsy and in cultured rat neurons.

Wen M, Yan Y, Yan N, Chen XS, Liu SY, Feng ZH.

Int J Mol Med. 2015 Mar;35(3):597-606. doi: 10.3892/ijmm.2015.2061. Epub 2015 Jan 5.

7.

Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsy.

Reinthaler EM, Lal D, Jurkowski W, Feucht M, Steinböck H, Gruber-Sedlmayr U, Ronen GM, Geldner J, Haberlandt E, Neophytou B, Hahn A, Altmüller J, Thiele H, Toliat MR; EuroEPINOMICS Consortium., Lerche H, Nürnberg P, Sander T, Neubauer BA, Zimprich F.

Epilepsia. 2014 Aug;55(8):e89-93. doi: 10.1111/epi.12712. Epub 2014 Jul 3.

8.

Mechanisms of activation and repression by the alternative splicing factors RBFOX1/2.

Sun S, Zhang Z, Fregoso O, Krainer AR.

RNA. 2012 Feb;18(2):274-83. doi: 10.1261/rna.030486.111. Epub 2011 Dec 19.

9.

Sodium and potassium channel dysfunctions in rare and common idiopathic epilepsy syndromes.

Hahn A, Neubauer BA.

Brain Dev. 2009 Aug;31(7):515-20. doi: 10.1016/j.braindev.2009.04.012. Epub 2009 May 22. Review.

PMID:
19464834
10.

DEPDC5 mutations in genetic focal epilepsies of childhood.

Lal D, Reinthaler EM, Schubert J, Muhle H, Riesch E, Kluger G, Jabbari K, Kawalia A, Bäumel C, Holthausen H, Hahn A, Feucht M, Neophytou B, Haberlandt E, Becker F, Altmüller J, Thiele H, Lemke JR, Lerche H, Nürnberg P, Sander T, Weber Y, Zimprich F, Neubauer BA.

Ann Neurol. 2014 May;75(5):788-92. doi: 10.1002/ana.24127. Epub 2014 Apr 14.

PMID:
24591017
11.

Orchestration of neurodevelopmental programs by RBFOX1: implications for autism spectrum disorder.

Bill BR, Lowe JK, Dybuncio CT, Fogel BL.

Int Rev Neurobiol. 2013;113:251-67. doi: 10.1016/B978-0-12-418700-9.00008-3. Review.

12.

16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.

Reinthaler EM, Lal D, Lebon S, Hildebrand MS, Dahl HH, Regan BM, Feucht M, Steinböck H, Neophytou B, Ronen GM, Roche L, Gruber-Sedlmayr U, Geldner J, Haberlandt E, Hoffmann P, Herms S, Gieger C, Waldenberger M, Franke A, Wittig M, Schoch S, Becker AJ, Hahn A, Männik K, Toliat MR, Winterer G; 16p11.2 European Consortium., Lerche H, Nürnberg P, Mefford H, Scheffer IE, Berkovic SF, Beckmann JS; EPICURE Consortium.; EuroEPINOMICS Consortium., Sander T, Jacquemont S, Reymond A, Zimprich F, Neubauer BA.

Hum Mol Genet. 2014 Nov 15;23(22):6069-80. doi: 10.1093/hmg/ddu306. Epub 2014 Jun 16.

PMID:
24939913
13.

Analysis of colorectal cancers in British Bangladeshi identifies early onset, frequent mucinous histotype and a high prevalence of RBFOX1 deletion.

Sengupta N, Yau C, Sakthianandeswaren A, Mouradov D, Gibbs P, Suraweera N, Cazier JB, Polanco-Echeverry G, Ghosh A, Thaha M, Ahmed S, Feakins R, Propper D, Dorudi S, Sieber O, Silver A, Lai C.

Mol Cancer. 2013 Jan 3;12:1. doi: 10.1186/1476-4598-12-1.

14.

Chronic HIV-1 Tat and HIV reduce Rbfox3/NeuN: evidence for sex-related effects.

Hahn YK, Masvekar RR, Xu R, Hauser KF, Knapp PE.

Curr HIV Res. 2015;13(1):10-20.

15.

Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes.

Reinthaler EM, Dejanovic B, Lal D, Semtner M, Merkler Y, Reinhold A, Pittrich DA, Hotzy C, Feucht M, Steinböck H, Gruber-Sedlmayr U, Ronen GM, Neophytou B, Geldner J, Haberlandt E, Muhle H, Ikram MA, van Duijn CM, Uitterlinden AG, Hofman A, Altmüller J, Kawalia A, Toliat MR; EuroEPINOMICS Consortium., Nürnberg P, Lerche H, Nothnagel M, Thiele H, Sander T, Meier JC, Schwarz G, Neubauer BA, Zimprich F.

Ann Neurol. 2015 Jun;77(6):972-86. doi: 10.1002/ana.24395. Epub 2015 Mar 28.

PMID:
25726841
16.

RBFOX1 regulates both splicing and transcriptional networks in human neuronal development.

Fogel BL, Wexler E, Wahnich A, Friedrich T, Vijayendran C, Gao F, Parikshak N, Konopka G, Geschwind DH.

Hum Mol Genet. 2012 Oct 1;21(19):4171-86. doi: 10.1093/hmg/dds240. Epub 2012 Jun 23.

17.

The RNA-binding protein Rbfox1 regulates splicing required for skeletal muscle structure and function.

Pedrotti S, Giudice J, Dagnino-Acosta A, Knoblauch M, Singh RK, Hanna A, Mo Q, Hicks J, Hamilton S, Cooper TA.

Hum Mol Genet. 2015 Apr 15;24(8):2360-74. doi: 10.1093/hmg/ddv003. Epub 2015 Jan 9.

18.

Alternative splicing regulation of APP exon 7 by RBFox proteins.

Alam S, Suzuki H, Tsukahara T.

Neurochem Int. 2014 Dec;78:7-17. doi: 10.1016/j.neuint.2014.08.001. Epub 2014 Aug 11.

PMID:
25125370
19.

Isoform-specific proteasomal degradation of Rbfox3 during chicken embryonic development.

Kim KK, Adelstein RS, Kawamoto S.

Biochem Biophys Res Commun. 2014 Aug 8;450(4):1662-7. doi: 10.1016/j.bbrc.2014.07.057. Epub 2014 Jul 17.

20.

A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including GRIN2A and PRRT2.

Dimassi S, Labalme A, Lesca G, Rudolf G, Bruneau N, Hirsch E, Arzimanoglou A, Motte J, de Saint Martin A, Boutry-Kryza N, Cloarec R, Benitto A, Ameil A, Edery P, Ryvlin P, De Bellescize J, Szepetowski P, Sanlaville D.

Epilepsia. 2014 Feb;55(2):370-8. doi: 10.1111/epi.12502. Epub 2013 Dec 24.

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