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509 results

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KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.
Bonardi CM, Heyne HO, Fiannacca M, Fitzgerald MP, Gardella E, Gunning B, Olofsson K, Lesca G, Verbeek N, Stamberger H, Striano P, Zara F, Mancardi MM, Nava C, Syrbe S, Buono S, Baulac S, Coppola A, Weckhuysen S, Schoonjans AS, Ceulemans B, Sarret C, Baumgartner T, Muhle H, Portes VD, Toulouse J, Nougues MC, Rossi M, Demarquay G, Ville D, Hirsch E, Maurey H, Willems M, de Bellescize J, Altuzarra CD, Villeneuve N, Bartolomei F, Picard F, Hornemann F, Koolen DA, Kroes HY, Reale C, Fenger CD, Tan WH, Dibbens L, Bearden DR, Møller RS, Rubboli G. Bonardi CM, et al. Among authors: zara f. Brain. 2021 Dec 31;144(12):3635-3650. doi: 10.1093/brain/awab219. Brain. 2021. PMID: 34114611
Lack of SCN1A mutations in familial febrile seizures.
Malacarne M, Madia F, Gennaro E, Vacca D, Güney AI, Buono S, Bernardina BD, Gaggero R, Gobbi G, Lispi ML, Malamaci D, Melideo G, Roccella M, Sferro C, Tiberti A, Vanadia F, Vigevano F, Viri F, Vitali MR, Bricarelli FD, Bianchi A, Zara F. Malacarne M, et al. Among authors: zara f. Epilepsia. 2002 May;43(5):559-62. doi: 10.1046/j.1528-1157.2002.29301.x. Epilepsia. 2002. PMID: 12027919 Free article.
Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy.
Gennaro E, Santorelli FM, Bertini E, Buti D, Gaggero R, Gobbi G, Lini M, Granata T, Freri E, Parmeggiani A, Striano P, Veggiotti P, Cardinali S, Bricarelli FD, Minetti C, Zara F. Gennaro E, et al. Among authors: zara f. Biochem Biophys Res Commun. 2006 Mar 10;341(2):489-93. doi: 10.1016/j.bbrc.2005.12.209. Epub 2006 Jan 13. Biochem Biophys Res Commun. 2006. PMID: 16430863
GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features.
Biancheri R, Zara F, Striano P, Pedemonte M, Cassandrini D, Stringara S, Manganelli F, Santoro L, Schenone A, Bellone E, Minetti C. Biancheri R, et al. Among authors: zara f. J Neurol. 2006 Sep;253(9):1234-5. doi: 10.1007/s00415-006-0149-4. Epub 2006 Apr 10. J Neurol. 2006. PMID: 16607474 No abstract available.
Epileptic seizures can follow high doses of oral vardenafil.
Striano P, Zara F, Minetti C, Striano S. Striano P, et al. Among authors: zara f. BMJ. 2006 Oct 14;333(7572):785. doi: 10.1136/sbmj.38953.758565.79. BMJ. 2006. PMID: 17038735 Free PMC article. No abstract available.
509 results