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Electroclinical features and phenotypic differences in adenylosuccinate lyase deficiency: Long-term follow-up of seven patients from four families and appraisal of the literature.
Cutillo G, Masnada S, Lesca G, Ville D, Accorsi P, Giordano L, Pichiecchio A, Valente M, Borrelli P, Ferraro OE, Veggiotti P. Cutillo G, et al. Among authors: pichiecchio a. Epilepsia Open. 2024 Feb;9(1):106-121. doi: 10.1002/epi4.12837. Epub 2023 Nov 27. Epilepsia Open. 2024. PMID: 37842880 Free PMC article.
Predictors of outcome in a large retrospective cohort of patients with transverse myelitis.
Gastaldi M, Marchioni E, Banfi P, Mariani V, Di Lodovico L, Bergamaschi R, Alfonsi E, Borrelli P, Ferraro OE, Zardini E, Pichiecchio A, Cortese A, Waters P, Woodhall M, Ceroni M, Mauri M, Franciotta D. Gastaldi M, et al. Among authors: pichiecchio a. Mult Scler. 2018 Nov;24(13):1743-1752. doi: 10.1177/1352458517731911. Epub 2017 Oct 2. Mult Scler. 2018. PMID: 28967297
The phenotype of SCN8A developmental and epileptic encephalopathy.
Gardella E, Marini C, Trivisano M, Fitzgerald MP, Alber M, Howell KB, Darra F, Siliquini S, Bölsterli BK, Masnada S, Pichiecchio A, Johannesen KM, Jepsen B, Fontana E, Anibaldi G, Russo S, Cogliati F, Montomoli M, Specchio N, Rubboli G, Veggiotti P, Beniczky S, Wolff M, Helbig I, Vigevano F, Scheffer IE, Guerrini R, Møller RS. Gardella E, et al. Among authors: pichiecchio a. Neurology. 2018 Sep 18;91(12):e1112-e1124. doi: 10.1212/WNL.0000000000006199. Epub 2018 Aug 31. Neurology. 2018. PMID: 30171078 Free article.
Spontaneous MRI improvement and absence of cerebral calcification in Aicardi-Goutières syndrome: Diagnostic and disease-monitoring implications.
Tonduti D, Izzo G, D'Arrigo S, Riva D, Moroni I, Zorzi G, Cavallera V, Pichiecchio A, Uggetti C, Veggiotti P, Orcesi S, Chiapparini L, Parazzini C. Tonduti D, et al. Among authors: pichiecchio a. Mol Genet Metab. 2019 Apr;126(4):489-494. doi: 10.1016/j.ymgme.2019.02.006. Epub 2019 Feb 25. Mol Genet Metab. 2019. PMID: 30826161
Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review.
Garau J, Cavallera V, Valente M, Tonduti D, Sproviero D, Zucca S, Battaglia D, Battini R, Bertini E, Cappanera S, Chiapparini L, Crasà C, Crichiutti G, Dalla Giustina E, D'Arrigo S, De Giorgis V, De Simone M, Galli J, La Piana R, Messana T, Moroni I, Nardocci N, Panteghini C, Parazzini C, Pichiecchio A, Pini A, Ricci F, Saletti V, Salvatici E, Santorelli FM, Sartori S, Tinelli F, Uggetti C, Veneselli E, Zorzi G, Garavaglia B, Fazzi E, Orcesi S, Cereda C. Garau J, et al. Among authors: pichiecchio a. J Clin Med. 2019 May 26;8(5):750. doi: 10.3390/jcm8050750. J Clin Med. 2019. PMID: 31130681 Free PMC article.
198 results