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Page 1
Genotype-phenotype correlations of DHP receptor alpha 1-subunit gene mutations causing hypokalemic periodic paralysis.
Fouad G, Dalakas M, Servidei S, Mendell JR, Van den Bergh P, Angelini C, Alderson K, Griggs RC, Tawil R, Gregg R, Hogan K, Powers PA, Weinberg N, Malonee W, Ptácek LJ. Fouad G, et al. Among authors: servidei s. Neuromuscul Disord. 1997 Jan;7(1):33-8. doi: 10.1016/s0960-8966(96)00401-4. Neuromuscul Disord. 1997. PMID: 9132138 Free article.
Correlating phenotype and genotype in the periodic paralyses.
Miller TM, Dias da Silva MR, Miller HA, Kwiecinski H, Mendell JR, Tawil R, McManis P, Griggs RC, Angelini C, Servidei S, Petajan J, Dalakas MC, Ranum LP, Fu YH, Ptácek LJ. Miller TM, et al. Among authors: servidei s. Neurology. 2004 Nov 9;63(9):1647-55. doi: 10.1212/01.wnl.0000143383.91137.00. Neurology. 2004. PMID: 15534250
Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia.
Bruno MK, Lee HY, Auburger GW, Friedman A, Nielsen JE, Lang AE, Bertini E, Van Bogaert P, Averyanov Y, Hallett M, Gwinn-Hardy K, Sorenson B, Pandolfo M, Kwiecinski H, Servidei S, Fu YH, Ptácek L. Bruno MK, et al. Among authors: servidei s. Neurology. 2007 May 22;68(21):1782-9. doi: 10.1212/01.wnl.0000262029.91552.e0. Neurology. 2007. PMID: 17515540
The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway.
Lee HY, Xu Y, Huang Y, Ahn AH, Auburger GW, Pandolfo M, Kwiecinski H, Grimes DA, Lang AE, Nielsen JE, Averyanov Y, Servidei S, Friedman A, Van Bogaert P, Abramowicz MJ, Bruno MK, Sorensen BF, Tang L, Fu YH, Ptácek LJ. Lee HY, et al. Among authors: servidei s. Hum Mol Genet. 2004 Dec 15;13(24):3161-70. doi: 10.1093/hmg/ddh330. Epub 2004 Oct 20. Hum Mol Genet. 2004. PMID: 15496428
Laminin alpha2 muscular dystrophy: genotype/phenotype studies of 22 patients.
Pegoraro E, Marks H, Garcia CA, Crawford T, Mancias P, Connolly AM, Fanin M, Martinello F, Trevisan CP, Angelini C, Stella A, Scavina M, Munk RL, Servidei S, Bönnemann CC, Bertorini T, Acsadi G, Thompson CE, Gagnon D, Hoganson G, Carver V, Zimmerman RA, Hoffman EP. Pegoraro E, et al. Among authors: servidei s. Neurology. 1998 Jul;51(1):101-10. doi: 10.1212/wnl.51.1.101. Neurology. 1998. PMID: 9674786
Mitochondrial encephalomyopathies: gene mutation.
Servidei S. Servidei S. Neuromuscul Disord. 2001 Nov;11(8):774-9. doi: 10.1016/s0960-8966(01)00293-0. Neuromuscul Disord. 2001. PMID: 11712510 No abstract available.
Mitochondrial encephalomyopathies: gene mutation.
Servidei S. Servidei S. Neuromuscul Disord. 2002 Feb;12(2):224-9. doi: 10.1016/s0960-8966(01)00317-0. Neuromuscul Disord. 2002. PMID: 11789478 No abstract available.
Mitochondrial encephalomyopathies:gene mutation.
Servidei S. Servidei S. Neuromuscul Disord. 2002 Jun;12(5):524-9. doi: 10.1016/s0960-8966(02)00056-1. Neuromuscul Disord. 2002. PMID: 12108393 No abstract available.
296 results