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Page 1
Co-occurrence of amyotrophic lateral sclerosis and Leber's hereditary optic neuropathy: is mitochondrial dysfunction a modifier?
Amore G, Vacchiano V, La Morgia C, Valentino ML, Caporali L, Fiorini C, Ormanbekova D, Salvi F, Bartoletti-Stella A, Capellari S, Liguori R, Carelli V. Amore G, et al. Among authors: bartoletti stella a. J Neurol. 2023 Jan;270(1):559-564. doi: 10.1007/s00415-022-11355-w. Epub 2022 Sep 6. J Neurol. 2023. PMID: 36066624 Free PMC article. No abstract available.
Messenger RNA processing is altered in autosomal dominant leukodystrophy.
Bartoletti-Stella A, Gasparini L, Giacomini C, Corrado P, Terlizzi R, Giorgio E, Magini P, Seri M, Baruzzi A, Parchi P, Brusco A, Cortelli P, Capellari S. Bartoletti-Stella A, et al. Hum Mol Genet. 2015 May 15;24(10):2746-56. doi: 10.1093/hmg/ddv034. Epub 2015 Jan 30. Hum Mol Genet. 2015. PMID: 25637521 Free PMC article.
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. J Neurol. 2015 Oct;262(10):2373-81. doi: 10.1007/s00415-015-7896-z. Epub 2015 Sep 26. J Neurol. 2015. PMID: 26410747
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. J Neurol. 2017 Jul;264(7):1426-1433. doi: 10.1007/s00415-017-8540-x. Epub 2017 Jun 15. J Neurol. 2017. PMID: 28620717
Messenger RNA processing is altered in autosomal dominant leukodystrophy.
Bartoletti-Stella A, Gasparini L, Giacomini C, Corrado P, Terlizzi R, Giorgio E, Magini P, Seri M, Baruzzi A, Parchi P, Brusco A, Cortelli P, Capellari S. Bartoletti-Stella A, et al. Hum Mol Genet. 2017 Oct 1;26(19):3868. doi: 10.1093/hmg/ddx225. Hum Mol Genet. 2017. PMID: 28934398 Free PMC article. No abstract available.
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. 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
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. 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.
49 results