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Journal Abstract Search

111 related items for PubMed ID: 19420371

  • 1. Membrane physiology--bridging the gap between medical disciplines.
    Bleich M.
    N Engl J Med; 2009 May 07; 360(19):2012-4. PubMed ID: 19420371
    [No Abstract] [Full Text] [Related]

  • 2. The EAST syndrome and KCNJ10 mutations.
    Shi M, Zhao G.
    N Engl J Med; 2009 Aug 06; 361(6):630; author reply 630-1. PubMed ID: 19657131
    [No Abstract] [Full Text] [Related]

  • 3. Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations.
    Bockenhauer D, Feather S, Stanescu HC, Bandulik S, Zdebik AA, Reichold M, Tobin J, Lieberer E, Sterner C, Landoure G, Arora R, Sirimanna T, Thompson D, Cross JH, van't Hoff W, Al Masri O, Tullus K, Yeung S, Anikster Y, Klootwijk E, Hubank M, Dillon MJ, Heitzmann D, Arcos-Burgos M, Knepper MA, Dobbie A, Gahl WA, Warth R, Sheridan E, Kleta R.
    N Engl J Med; 2009 May 07; 360(19):1960-70. PubMed ID: 19420365
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  • 4. Novel mutation in the KCNJ10 gene in three siblings with seizures, ataxia and no electrolyte abnormalities.
    Al Dhaibani MA, El-Hattab AW, Holroyd KB, Orthmann-Murphy J, Larson VA, Siddiqui KA, Szolics M, Schiess N.
    J Neurogenet; 2018 Mar 07; 32(1):1-5. PubMed ID: 29191078
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  • 7. Epilepsy in patients with EAST syndrome caused by mutation in the KCNJ10.
    Mir A, Chaudhary M, Alkhaldi H, Alhazmi R, Albaradie R, Housawi Y.
    Brain Dev; 2019 Sep 07; 41(8):706-715. PubMed ID: 30952461
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  • 10. [EAST/SeSAME syndrome and functional expression of inward rectifier potassium channel Kir4.1 in the inner ear].
    Chen J, Zhao H.
    Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2015 Jul 07; 29(14):1318-22. PubMed ID: 26672256
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  • 11. The salt-wasting phenotype of EAST syndrome, a disease with multifaceted symptoms linked to the KCNJ10 K+ channel.
    Bandulik S, Schmidt K, Bockenhauer D, Zdebik AA, Humberg E, Kleta R, Warth R, Reichold M.
    Pflugers Arch; 2011 Apr 07; 461(4):423-35. PubMed ID: 21221631
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  • 12. Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.
    Schlingmann KP, Renigunta A, Hoorn EJ, Forst AL, Renigunta V, Atanasov V, Mahendran S, Barakat TS, Gillion V, Godefroid N, Brooks AS, Lugtenberg D, Lake J, Debaix H, Rudin C, Knebelmann B, Tellier S, Rousset-Rouvière C, Viering D, de Baaij JHF, Weber S, Palygin O, Staruschenko A, Kleta R, Houillier P, Bockenhauer D, Devuyst O, Vargas-Poussou R, Warth R, Zdebik AA, Konrad M.
    J Am Soc Nephrol; 2021 Jun 01; 32(6):1498-1512. PubMed ID: 33811157
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  • 13. Thiazide Responsiveness Testing in Patients With Renal Magnesium Wasting and Correlation With Genetic Analysis: A Diagnostic Test Study.
    Bech AP, Wetzels JF, Bongers EM, Nijenhuis T.
    Am J Kidney Dis; 2016 Jul 01; 68(1):168-70. PubMed ID: 26830254
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  • 14. Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome.
    Cross JH, Arora R, Heckemann RA, Gunny R, Chong K, Carr L, Baldeweg T, Differ AM, Lench N, Varadkar S, Sirimanna T, Wassmer E, Hulton SA, Ognjanovic M, Ramesh V, Feather S, Kleta R, Hammers A, Bockenhauer D.
    Dev Med Child Neurol; 2013 Sep 01; 55(9):846-56. PubMed ID: 23924083
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  • 17. KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features.
    Gloyn AL, Diatloff-Zito C, Edghill EL, Bellanné-Chantelot C, Nivot S, Coutant R, Ellard S, Hattersley AT, Robert JJ.
    Eur J Hum Genet; 2006 Jul 01; 14(7):824-30. PubMed ID: 16670688
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  • 18. Variable loss of Kir4.1 channel function in SeSAME syndrome mutations.
    Tang X, Hang D, Sand A, Kofuji P.
    Biochem Biophys Res Commun; 2010 Sep 03; 399(4):537-41. PubMed ID: 20678478
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