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Journal Abstract Search

135 related items for PubMed ID: 29476442

  • 1. Novel Homozygous KCNJ10 Mutation in a Patient with Non-syndromic Early-Onset Cerebellar Ataxia.
    Nicita F, Tasca G, Nardella M, Bellacchio E, Camponeschi I, Vasco G, Schirinzi T, Bertini E, Zanni G.
    Cerebellum; 2018 Aug; 17(4):499-503. PubMed ID: 29476442
    [Abstract] [Full Text] [Related]

  • 2. Novel mutations in the KCNJ10 gene associated to a distinctive ataxia, sensorineural hearing loss and spasticity clinical phenotype.
    Morin M, Forst AL, Pérez-Torre P, Jiménez-Escrig A, Barca-Tierno V, García-Galloway E, Warth R, Lopez-Sendón Moreno JL, Moreno-Pelayo MA.
    Neurogenetics; 2020 Apr; 21(2):135-143. PubMed ID: 32062759
    [Abstract] [Full Text] [Related]

  • 3. Lethal digenic mutations in the K+ channels Kir4.1 (KCNJ10) and SLACK (KCNT1) associated with severe-disabling seizures and neurodevelopmental delay.
    Hasan S, Balobaid A, Grottesi A, Dabbagh O, Cenciarini M, Rawashdeh R, Al-Sagheir A, Bove C, Macchioni L, Pessia M, Al-Owain M, D'Adamo MC.
    J Neurophysiol; 2017 Oct 01; 118(4):2402-2411. PubMed ID: 28747464
    [Abstract] [Full Text] [Related]

  • 4. [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 01; 29(14):1318-22. PubMed ID: 26672256
    [Abstract] [Full Text] [Related]

  • 5. Identification and functional characterization of two novel mutations in KCNJ10 and PI4KB in SeSAME syndrome without electrolyte imbalance.
    Nadella RK, Chellappa A, Subramaniam AG, More RP, Shetty S, Prakash S, Ratna N, Vandana VP, Purushottam M, Saini J, Viswanath B, Bindu PS, Nagappa M, Mehta B, Jain S, Kannan R.
    Hum Genomics; 2019 Oct 22; 13(1):53. PubMed ID: 31640787
    [Abstract] [Full Text] [Related]

  • 6. Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10.
    Scholl UI, Choi M, Liu T, Ramaekers VT, Häusler MG, Grimmer J, Tobe SW, Farhi A, Nelson-Williams C, Lifton RP.
    Proc Natl Acad Sci U S A; 2009 Apr 07; 106(14):5842-7. PubMed ID: 19289823
    [Abstract] [Full Text] [Related]

  • 7. KCNJ10 mutations disrupt function in patients with EAST syndrome.
    Freudenthal B, Kulaveerasingam D, Lingappa L, Shah MA, Brueton L, Wassmer E, Ognjanovic M, Dorison N, Reichold M, Bockenhauer D, Kleta R, Zdebik AA.
    Nephron Physiol; 2011 Apr 07; 119(3):p40-8. PubMed ID: 21849804
    [Abstract] [Full Text] [Related]

  • 8. Genome-wide association study for hereditary ataxia in the Parson Russell Terrier and DNA-testing for ataxia-associated mutations in the Parson and Jack Russell Terrier.
    Gast AC, Metzger J, Tipold A, Distl O.
    BMC Vet Res; 2016 Oct 10; 12(1):225. PubMed ID: 27724896
    [Abstract] [Full Text] [Related]

  • 9. A homozygous KCNJ10 mutation in Jack Russell Terriers and related breeds with spinocerebellar ataxia with myokymia, seizures, or both.
    Gilliam D, O'Brien DP, Coates JR, Johnson GS, Johnson GC, Mhlanga-Mutangadura T, Hansen L, Taylor JF, Schnabel RD.
    J Vet Intern Med; 2014 Oct 10; 28(3):871-7. PubMed ID: 24708069
    [Abstract] [Full Text] [Related]

  • 10. Molecular mechanisms of EAST/SeSAME syndrome mutations in Kir4.1 (KCNJ10).
    Sala-Rabanal M, Kucheryavykh LY, Skatchkov SN, Eaton MJ, Nichols CG.
    J Biol Chem; 2010 Nov 12; 285(46):36040-8. PubMed ID: 20807765
    [Abstract] [Full Text] [Related]

  • 11. 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 12; 32(1):1-5. PubMed ID: 29191078
    [Abstract] [Full Text] [Related]

  • 12. 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
    [Abstract] [Full Text] [Related]

  • 13. Unusual white matter involvement in EAST syndrome associated with novel KCNJ10 mutations.
    Severino M, Lualdi S, Fiorillo C, Striano P, De Toni T, Peluso S, De Michele G, Rossi A, Filocamo M, Bruno C.
    J Neurol; 2018 Jun 07; 265(6):1419-1425. PubMed ID: 29666984
    [Abstract] [Full Text] [Related]

  • 14. Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome.
    Mahmood F, Mozere M, Zdebik AA, Stanescu HC, Tobin J, Beales PL, Kleta R, Bockenhauer D, Russell C.
    Dis Model Mech; 2013 May 07; 6(3):652-60. PubMed ID: 23471908
    [Abstract] [Full Text] [Related]

  • 15. 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
    [Abstract] [Full Text] [Related]

  • 16. KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function.
    Reichold M, Zdebik AA, Lieberer E, Rapedius M, Schmidt K, Bandulik S, Sterner C, Tegtmeier I, Penton D, Baukrowitz T, Hulton SA, Witzgall R, Ben-Zeev B, Howie AJ, Kleta R, Bockenhauer D, Warth R.
    Proc Natl Acad Sci U S A; 2010 Aug 10; 107(32):14490-5. PubMed ID: 20651251
    [Abstract] [Full Text] [Related]

  • 17. SeSAME/EAST syndrome--phenotypic variability and delayed activity of the distal convoluted tubule.
    Scholl UI, Dave HB, Lu M, Farhi A, Nelson-Williams C, Listman JA, Lifton RP.
    Pediatr Nephrol; 2012 Nov 10; 27(11):2081-2090. PubMed ID: 22907601
    [Abstract] [Full Text] [Related]

  • 18. Novel KCNJ10 Compound Heterozygous Mutations Causing EAST/SeSAME-Like Syndrome Compromise Potassium Channel Function.
    Zhang H, Zhu L, Wang F, Wang R, Hong Y, Chen Y, Zhu B, Gao Y, Luo H, Zhang X, Sun H, Zhou Y, Yao Y, Wang X.
    Front Genet; 2019 Nov 10; 10():912. PubMed ID: 31781151
    [Abstract] [Full Text] [Related]

  • 19. 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
    [Abstract] [Full Text] [Related]

  • 20. EAST/SeSAME syndrome: Review of the literature and introduction of four new Latvian patients.
    Celmina M, Micule I, Inashkina I, Audere M, Kuske S, Pereca J, Stavusis J, Pelnena D, Strautmanis J.
    Clin Genet; 2019 Jan 03; 95(1):63-78. PubMed ID: 29722015
    [Abstract] [Full Text] [Related]

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