Koenderink JB - Search Results

1

Rare missense variants in ATP1A2 in families with clustering of common forms of migraine.

Todt U, Dichgans M, Jurkat-Rott K, Heinze A, Zifarelli G, Koenderink JB, Goebel I, Zumbroich V, Stiller A, Ramirez A, Friedrich T, Göbel H, Kubisch C. Todt U, et al. Among authors: koenderink jb. Hum Mutat. 2005 Oct;26(4):315-21. doi: 10.1002/humu.20229. Hum Mutat. 2005. PMID: 16110494

2

Diverse functional consequences of mutations in the Na+/K+-ATPase alpha2-subunit causing familial hemiplegic migraine type 2.

Tavraz NN, Friedrich T, Dürr KL, Koenderink JB, Bamberg E, Freilinger T, Dichgans M. Tavraz NN, et al. Among authors: koenderink jb. J Biol Chem. 2008 Nov 7;283(45):31097-106. doi: 10.1074/jbc.M802771200. Epub 2008 Aug 26. J Biol Chem. 2008. PMID: 18728015 Free PMC article.

3

Impaired plasma membrane targeting or protein stability by certain ATP1A2 mutations identified in sporadic or familial hemiplegic migraine.

Tavraz NN, Dürr KL, Koenderink JB, Freilinger T, Bamberg E, Dichgans M, Friedrich T. Tavraz NN, et al. Among authors: koenderink jb. Channels (Austin). 2009 Mar-Apr;3(2):82-7. doi: 10.4161/chan.3.2.8085. Epub 2009 Mar 3. Channels (Austin). 2009. PMID: 19372756 Free article.

4

Conformational dynamics of Na+/K+- and H+/K+-ATPase probed by voltage clamp fluorometry.

Geibel S, Zimmermann D, Zifarelli G, Becker A, Koenderink JB, Hu YK, Kaplan JH, Friedrich T, Bamberg E. Geibel S, et al. Among authors: koenderink jb. Ann N Y Acad Sci. 2003 Apr;986:31-8. doi: 10.1111/j.1749-6632.2003.tb07136.x. Ann N Y Acad Sci. 2003. PMID: 12763772

5

Na,K-ATPase mutations in familial hemiplegic migraine lead to functional inactivation.

Koenderink JB, Zifarelli G, Qiu LY, Schwarz W, De Pont JJ, Bamberg E, Friedrich T. Koenderink JB, et al. Biochim Biophys Acta. 2005 May 15;1669(1):61-8. doi: 10.1016/j.bbamem.2005.01.003. Epub 2005 Jan 26. Biochim Biophys Acta. 2005. PMID: 15843000 Free article.

6

A missense variant of the ATP1A2 gene is associated with a novel phenotype of progressive sensorineural hearing loss associated with migraine.

Oh SK, Baek JI, Weigand KM, Venselaar H, Swarts HG, Park SH, Hashim Raza M, Jung DJ, Choi SY, Lee SH, Friedrich T, Vriend G, Koenderink JB, Kim UK, Lee KY. Oh SK, et al. Among authors: koenderink jb. Eur J Hum Genet. 2015 May;23(5):639-45. doi: 10.1038/ejhg.2014.154. Epub 2014 Aug 20. Eur J Hum Genet. 2015. PMID: 25138102 Free PMC article.

7

Electrophysiological analysis of the mutated Na,K-ATPase cation binding pocket.

Koenderink JB, Geibel S, Grabsch E, De Pont JJ, Bamberg E, Friedrich T. Koenderink JB, et al. J Biol Chem. 2003 Dec 19;278(51):51213-22. doi: 10.1074/jbc.M306384200. Epub 2003 Oct 7. J Biol Chem. 2003. PMID: 14532287 Free article.

8

Two-electrode voltage-clamp analysis of Na,K-ATPase asparagine 776 mutants.

Koenderink JB, Geibel S, Grabsch E, De Pont JJ, Bamberg E, Friedrich T. Koenderink JB, et al. Ann N Y Acad Sci. 2003 Apr;986:150-4. doi: 10.1111/j.1749-6632.2003.tb07152.x. Ann N Y Acad Sci. 2003. PMID: 12763788

9

Recurrent ATP1A2 mutations in Portuguese families with familial hemiplegic migraine.

Castro MJ, Stam AH, Lemos C, Barros J, Gouveia RG, Martins IP, Koenderink JB, Vanmolkot KRJ, Mendes AP, Frants RR, Ferrari MD, Sequeiros J, Pereira-Monteiro JM, van den Maagdenberg AMJM. Castro MJ, et al. Among authors: koenderink jb. J Hum Genet. 2007;52(12):990-998. doi: 10.1007/s10038-007-0205-7. Epub 2007 Oct 19. J Hum Genet. 2007. PMID: 17952365

10

Systematic analysis of three FHM genes in 39 sporadic patients with hemiplegic migraine.

de Vries B, Freilinger T, Vanmolkot KR, Koenderink JB, Stam AH, Terwindt GM, Babini E, van den Boogerd EH, van den Heuvel JJ, Frants RR, Haan J, Pusch M, van den Maagdenberg AM, Ferrari MD, Dichgans M. de Vries B, et al. Among authors: koenderink jb. Neurology. 2007 Dec 4;69(23):2170-6. doi: 10.1212/01.wnl.0000295670.01629.5a. Neurology. 2007. PMID: 18056581 Free article.

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