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Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy.
Bott LC, Forouhan M, Lieto M, Sala AJ, Ellerington R, Johnson JO, Speciale AA, Criscuolo C, Filla A, Chitayat D, Alkhunaizi E, Shannon P, Nemeth AH; Italian Undiagnosed Diseases Network; Angelucci F, Lim WF, Striano P, Zara F, Helbig I, Muona M, Courage C, Lehesjoki AE, Berkovic SF; ATPase Consortium; Fischbeck KH, Brancati F, Morimoto RI, Wood MJA, Rinaldi C. Bott LC, et al. Among authors: lieto m. Brain Commun. 2021 Oct 18;3(4):fcab245. doi: 10.1093/braincomms/fcab245. eCollection 2021. Brain Commun. 2021. PMID: 34909687 Free PMC article.
SPG5 and multiple sclerosis: clinical and genetic overlap?
Criscuolo C, Carbone R, Lieto M, Peluso S, Guacci A, Filla A, Quarantelli M, Lanzillo R, Morra VB, De Michele G. Criscuolo C, et al. Among authors: lieto m. Acta Neurol Scand. 2016 Jun;133(6):410-4. doi: 10.1111/ane.12476. Epub 2015 Sep 15. Acta Neurol Scand. 2016. PMID: 26370385
Pathological laughter as onset symptom in atypical parkinsonisms.
De Rosa A, Pappatà S, Peluso S, Saccà F, Lieto M, Filla A, De Michele G. De Rosa A, et al. Among authors: lieto m. J Neurol. 2017 Jan;264(1):182-184. doi: 10.1007/s00415-016-8351-5. Epub 2016 Nov 24. J Neurol. 2017. PMID: 27885486 No abstract available.
The Multiple Faces of Spinocerebellar Ataxia type 2.
Antenora A, Rinaldi C, Roca A, Pane C, Lieto M, Saccà F, Peluso S, De Michele G, Filla A. Antenora A, et al. Among authors: lieto m. Ann Clin Transl Neurol. 2017 Aug 10;4(9):687-695. doi: 10.1002/acn3.437. eCollection 2017 Sep. Ann Clin Transl Neurol. 2017. PMID: 28904990 Free PMC article. Review.
Spinocerebellar ataxia 48 presenting with ataxia associated with cognitive, psychiatric, and extrapyramidal features: A report of two Italian families.
De Michele G, Lieto M, Galatolo D, Salvatore E, Cocozza S, Barghigiani M, Tessa A, Baldacci J, Pappatà S, Filla A, De Michele G, Santorelli FM. De Michele G, et al. Among authors: lieto m. Parkinsonism Relat Disord. 2019 Aug;65:91-96. doi: 10.1016/j.parkreldis.2019.05.001. Epub 2019 May 14. Parkinsonism Relat Disord. 2019. PMID: 31126790
Ataxia-myoclonus syndrome due to a novel homozygous ATP13A2 mutation.
De Michele G, Galatolo D, Lieto M, Fico T, Saccà F, Santorelli FM, Filla A. De Michele G, et al. Among authors: lieto m. Parkinsonism Relat Disord. 2020 Jul;76:42-43. doi: 10.1016/j.parkreldis.2020.06.001. Epub 2020 Jun 7. Parkinsonism Relat Disord. 2020. PMID: 32559632 No abstract available.
Gene therapy with AR isoform 2 rescues spinal and bulbar muscular atrophy phenotype by modulating AR transcriptional activity.
Lim WF, Forouhan M, Roberts TC, Dabney J, Ellerington R, Speciale AA, Manzano R, Lieto M, Sangha G, Banerjee S, Conceição M, Cravo L, Biscans A, Roux L, Pourshafie N, Grunseich C, Duguez S, Khvorova A, Pennuto M, Cortes CJ, La Spada AR, Fischbeck KH, Wood MJA, Rinaldi C. Lim WF, et al. Among authors: lieto m. Sci Adv. 2021 Aug 20;7(34):eabi6896. doi: 10.1126/sciadv.abi6896. Print 2021 Aug. Sci Adv. 2021. PMID: 34417184 Free PMC article.
Be aware of Wolfram syndrome when examining ataxic patients.
Antenora A, Lieto M, Santorelli FM, Peluso S, Saccà F, De Michele G, Filla A. Antenora A, et al. Among authors: lieto m. J Neurol. 2016 Sep;263(9):1862-3. doi: 10.1007/s00415-016-8199-8. Epub 2016 Jun 17. J Neurol. 2016. PMID: 27314960 No abstract available.
57 results