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Journal Abstract Search

121 related items for PubMed ID: 12612271

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  • 2. Treatment of drop attacks in Coffin-Lowry syndrome with the use of sodium oxybate.
    Havaligi N, Matadeen-Ali C, Khurana DS, Marks H, Kothare SV.
    Pediatr Neurol; 2007 Nov; 37(5):373-4. PubMed ID: 17950427
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  • 4. RSK2 gene mutations in Coffin-Lowry syndrome with drop episodes.
    Nakamura M, Yamagata T, Mori M, Momoi MY.
    Brain Dev; 2005 Mar; 27(2):114-7. PubMed ID: 15668050
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  • 6. The movement disorders of Coffin-Lowry syndrome.
    Stephenson JB, Hoffman MC, Russell AJ, Falconer J, Beach RC, Tolmie JL, McWilliam RC, Zuberi SM.
    Brain Dev; 2005 Mar; 27(2):108-13. PubMed ID: 15668049
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  • 7. Drop episodes in Coffin-Lowry syndrome: an unusual type of startle response.
    Caraballo R, Tesi Rocha A, Medina C, Fejerman N.
    Epileptic Disord; 2000 Sep; 2(3):173-6. PubMed ID: 11022143
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  • 11. Classic phenotype of Coffin-Lowry syndrome in a female with stimulus-induced drop episodes and a genotype with preserved N-terminal kinase domain.
    Rojnueangnit K, Jones JR, Basehore MJ, Robin NH.
    Am J Med Genet A; 2014 Feb; 164A(2):516-21. PubMed ID: 24311527
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  • 12. A syndromic form of X-linked mental retardation: the Coffin-Lowry syndrome.
    Touraine RL, Zeniou M, Hanauer A.
    Eur J Pediatr; 2002 Apr; 161(4):179-87. PubMed ID: 12014383
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  • 13. Drop episodes in Coffin-Lowry syndrome: exaggerated startle responses treated with clonazepam.
    Nakamura M, Yamagata T, Momoi MY, Yamazaki T.
    Pediatr Neurol; 1998 Aug; 19(2):148-50. PubMed ID: 9744638
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  • 14. The historical Coffin-Lowry syndrome family revisited: identification of two novel mutations of RPS6KA3 in three male patients.
    Nishimoto HK, Ha K, Jones JR, Dwivedi A, Cho HM, Layman LC, Kim HG.
    Am J Med Genet A; 2014 Sep; 164A(9):2172-9. PubMed ID: 25044551
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  • 19. An unusual cause for Coffin-Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3.
    Castelluccio VJ, Vetrini F, Lynnes T, Jones J, Holloway L, Belonis A, Breman AM, Graham BH, Sapp K, Wilson T, Schwartz CE, Pratt VM, Weaver DD.
    Am J Med Genet A; 2019 Dec; 179(12):2357-2364. PubMed ID: 31512387
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