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Page 1
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 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.
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
A distinctive autosomal dominant vacuolar neuromyopathy linked to 19p13.
Servidei S, Capon F, Spinazzola A, Mirabella M, Semprini S, de Rosa G, Gennarelli M, Sangiuolo F, Ricci E, Mohrenweiser HW, Dallapiccola B, Tonali P, Novelli G. Servidei S, et al. Neurology. 1999 Sep 11;53(4):830-7. doi: 10.1212/wnl.53.4.830. Neurology. 1999. PMID: 10489050
Apoptotic features accompany acute quadriplegic myopathy.
Di Giovanni S, Mirabella M, D'Amico A, Tonali P, Servidei S. Di Giovanni S, et al. Among authors: servidei s. Neurology. 2000 Sep 26;55(6):854-8. doi: 10.1212/wnl.55.6.854. Neurology. 2000. PMID: 10994008
Cerebellar ataxia and coenzyme Q10 deficiency.
Lamperti C, Naini A, Hirano M, De Vivo DC, Bertini E, Servidei S, Valeriani M, Lynch D, Banwell B, Berg M, Dubrovsky T, Chiriboga C, Angelini C, Pegoraro E, DiMauro S. Lamperti C, et al. Among authors: servidei s. Neurology. 2003 Apr 8;60(7):1206-8. doi: 10.1212/01.wnl.0000055089.39373.fc. Neurology. 2003. PMID: 12682339
295 results