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Identification of rare genetic variants in Italian patients with dementia by targeted gene sequencing.
Bartoletti-Stella A, Baiardi S, Stanzani-Maserati M, Piras S, Caffarra P, Raggi A, Pantieri R, Baldassari S, Caporali L, Abu-Rumeileh S, Linarello S, Liguori R, Parchi P, Capellari S. Bartoletti-Stella A, et al. Among authors: piras s. Neurobiol Aging. 2018 Jun;66:180.e23-180.e31. doi: 10.1016/j.neurobiolaging.2018.02.006. Epub 2018 Feb 13. Neurobiol Aging. 2018. PMID: 29525180
Multiple variants in families with amyotrophic lateral sclerosis and frontotemporal dementia related to C9orf72 repeat expansion: further observations on their oligogenic nature.
Giannoccaro MP, Bartoletti-Stella A, Piras S, Pession A, De Massis P, Oppi F, Stanzani-Maserati M, Pasini E, Baiardi S, Avoni P, Parchi P, Liguori R, Capellari S. Giannoccaro MP, et al. Among authors: piras s. J Neurol. 2017 Jul;264(7):1426-1433. doi: 10.1007/s00415-017-8540-x. Epub 2017 Jun 15. J Neurol. 2017. PMID: 28620717
Characterization of novel progranulin gene variants in Italian patients with neurodegenerative diseases.
Bartoletti-Stella A, De Pasqua S, Baiardi S, Bartolomei I, Mengozzi G, Orio G, Pastorelli F, Piras S, Poda R, Raggi A, Stanzani Maserati M, Tarozzi M, Liguori R, Salvi F, Parchi P, Capellari S. Bartoletti-Stella A, et al. Among authors: piras s. Neurobiol Aging. 2021 Jan;97:145.e7-145.e15. doi: 10.1016/j.neurobiolaging.2020.05.004. Epub 2020 May 13. Neurobiol Aging. 2021. PMID: 32507413
A patient with PMP22-related hereditary neuropathy and DBH-gene-related dysautonomia.
Bartoletti-Stella A, Chiaro G, Calandra-Buonaura G, Contin M, Scaglione C, Barletta G, Cecere A, Garagnani P, Tieri P, Ferrarini A, Piras S, Franceschi C, Delledonne M, Cortelli P, Capellari S. Bartoletti-Stella A, et al. Among authors: piras s. J Neurol. 2015 Oct;262(10):2373-81. doi: 10.1007/s00415-015-7896-z. Epub 2015 Sep 26. J Neurol. 2015. PMID: 26410747
Two novel PRNP truncating mutations broaden the spectrum of prion amyloidosis.
Capellari S, Baiardi S, Rinaldi R, Bartoletti-Stella A, Graziano C, Piras S, Calandra-Buonaura G, D'Angelo R, Terziotti C, Lodi R, Donadio V, Pironi L, Cortelli P, Parchi P. Capellari S, et al. Among authors: piras s. Ann Clin Transl Neurol. 2018 Apr 26;5(6):777-783. doi: 10.1002/acn3.568. eCollection 2018 Jun. Ann Clin Transl Neurol. 2018. PMID: 29928661 Free PMC article.
136 results