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239 results

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Page 1
CLCN2 chloride channel mutations in familial hyperaldosteronism type II.
Scholl UI, Stölting G, Schewe J, Thiel A, Tan H, Nelson-Williams C, Vichot AA, Jin SC, Loring E, Untiet V, Yoo T, Choi J, Xu S, Wu A, Kirchner M, Mertins P, Rump LC, Onder AM, Gamble C, McKenney D, Lash RW, Jones DP, Chune G, Gagliardi P, Choi M, Gordon R, Stowasser M, Fahlke C, Lifton RP. Scholl UI, et al. Among authors: fahlke c. Nat Genet. 2018 Mar;50(3):349-354. doi: 10.1038/s41588-018-0048-5. Epub 2018 Feb 5. Nat Genet. 2018. PMID: 29403011 Free PMC article.
Novel CLCN1 mutations with unique clinical and electrophysiological consequences.
Wu FF, Ryan A, Devaney J, Warnstedt M, Korade-Mirnics Z, Poser B, Escriva MJ, Pegoraro E, Yee AS, Felice KJ, Giuliani MJ, Mayer RF, Mongini T, Palmucci L, Marino M, Rüdel R, Hoffman EP, Fahlke C. Wu FF, et al. Among authors: fahlke c. Brain. 2002 Nov;125(Pt 11):2392-407. doi: 10.1093/brain/awf246. Brain. 2002. PMID: 12390967
Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies.
Haug K, Warnstedt M, Alekov AK, Sander T, Ramírez A, Poser B, Maljevic S, Hebeisen S, Kubisch C, Rebstock J, Horvath S, Hallmann K, Dullinger JS, Rau B, Haverkamp F, Beyenburg S, Schulz H, Janz D, Giese B, Müller-Newen G, Propping P, Elger CE, Fahlke C, Lerche H, Heils A. Haug K, et al. Among authors: fahlke c. Nat Genet. 2003 Apr;33(4):527-32. doi: 10.1038/ng1121. Epub 2003 Mar 3. Nat Genet. 2003. Retraction in: Nat Genet. 2009 Sep;41(9):1043. doi: 10.1038/ng0909-1043 PMID: 12612585 Retracted.
Barttin modulates trafficking and function of ClC-K channels.
Scholl U, Hebeisen S, Janssen AG, Müller-Newen G, Alekov A, Fahlke C. Scholl U, et al. Among authors: fahlke c. Proc Natl Acad Sci U S A. 2006 Jul 25;103(30):11411-6. doi: 10.1073/pnas.0601631103. Epub 2006 Jul 18. Proc Natl Acad Sci U S A. 2006. PMID: 16849430 Free PMC article.
Disease-causing dysfunctions of barttin in Bartter syndrome type IV.
Janssen AG, Scholl U, Domeyer C, Nothmann D, Leinenweber A, Fahlke C. Janssen AG, et al. Among authors: fahlke c. J Am Soc Nephrol. 2009 Jan;20(1):145-53. doi: 10.1681/ASN.2008010102. Epub 2008 Sep 5. J Am Soc Nephrol. 2009. PMID: 18776122 Free PMC article.
CLCN2 variants in idiopathic generalized epilepsy.
Kleefuss-Lie A, Friedl W, Cichon S, Haug K, Warnstedt M, Alekov A, Sander T, Ramirez A, Poser B, Maljevic S, Hebeisen S, Kubisch C, Rebstock J, Horvath S, Hallmann K, Dullinger JS, Rau B, Haverkamp F, Beyenburg S, Schulz H, Janz D, Giese B, Müller-Newen G, Propping P, Elger CE, Fahlke C, Lerche H. Kleefuss-Lie A, et al. Among authors: fahlke c. Nat Genet. 2009 Sep;41(9):954-5. doi: 10.1038/ng0909-954. Nat Genet. 2009. PMID: 19710712 No abstract available.
Regulation of ClC-2 gating by intracellular ATP.
Stölting G, Teodorescu G, Begemann B, Schubert J, Nabbout R, Toliat MR, Sander T, Nürnberg P, Lerche H, Fahlke C. Stölting G, et al. Among authors: fahlke c. Pflugers Arch. 2013 Oct;465(10):1423-37. doi: 10.1007/s00424-013-1286-0. Epub 2013 May 1. Pflugers Arch. 2013. PMID: 23632988 Free PMC article.
239 results