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Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48.
Magri S, Nanetti L, Gellera C, Sarto E, Rizzo E, Mongelli A, Ricci B, Fancellu R, Sambati L, Cortelli P, Brusco A, Bruzzone MG, Mariotti C, Di Bella D, Taroni F. Magri S, et al. Among authors: bruzzone mg. Genet Med. 2022 Jan;24(1):29-40. doi: 10.1016/j.gim.2021.08.003. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906452 Free article.
Diffusion tensor imaging of spinocerebellar ataxias types 1 and 2.
Mandelli ML, De Simone T, Minati L, Bruzzone MG, Mariotti C, Fancellu R, Savoiardo M, Grisoli M. Mandelli ML, et al. Among authors: bruzzone mg. AJNR Am J Neuroradiol. 2007 Nov-Dec;28(10):1996-2000. doi: 10.3174/ajnr.A0716. AJNR Am J Neuroradiol. 2007. PMID: 17998418 Free PMC article.
Cortical thickness, stance control, and arithmetic skill: An exploratory study in premanifest Huntington disease.
Nanetti L, Contarino VE, Castaldo A, Sarro L, Bachoud-Levi AC, Giavazzi M, Frittoli S, Ciammola A, Rizzo E, Gellera C, Bruzzone MG, Taroni F, Grisoli M, Mariotti C. Nanetti L, et al. Among authors: bruzzone mg. Parkinsonism Relat Disord. 2018 Jun;51:17-23. doi: 10.1016/j.parkreldis.2018.02.033. Epub 2018 Feb 23. Parkinsonism Relat Disord. 2018. PMID: 29496355
Progression of Cerebellar Atrophy in Spinocerebellar Ataxia Type 2 Gene Carriers: A Longitudinal MRI Study in Preclinical and Early Disease Stages.
Nigri A, Sarro L, Mongelli A, Pinardi C, Porcu L, Castaldo A, Ferraro S, Grisoli M, Bruzzone MG, Gellera C, Taroni F, Mariotti C, Nanetti L. Nigri A, et al. Among authors: bruzzone mg. Front Neurol. 2020 Dec 15;11:616419. doi: 10.3389/fneur.2020.616419. eCollection 2020. Front Neurol. 2020. PMID: 33384659 Free PMC article.
Spinocerebellar Ataxia Type 1: One-Year Longitudinal Study to Identify Clinical and MRI Measures of Disease Progression in Patients and Presymptomatic Carriers.
Nigri A, Sarro L, Mongelli A, Castaldo A, Porcu L, Pinardi C, Grisoli M, Ferraro S, Canafoglia L, Visani E, Bruzzone MG, Nanetti L, Taroni F, Mariotti C. Nigri A, et al. Among authors: bruzzone mg. Cerebellum. 2022 Feb;21(1):133-144. doi: 10.1007/s12311-021-01285-0. Epub 2021 Jun 9. Cerebellum. 2022. PMID: 34106418
Virtual hospital and artificial intelligence: a first step towards the application of an innovative health system for the care of rare cerebrovascular diseases.
Rifino N, Bersano A, Padovani A, Conti GM, Cavallini A, Colombo L, Priori A, Pianese R, Gammone MR, Erbetta A, Ciceri EF, Sattin D, Varvello R, Parati EA, Scelzo E; for NOVHO-rCVD project. Rifino N, et al. Neurol Sci. 2024 May;45(5):2087-2095. doi: 10.1007/s10072-023-07206-9. Epub 2023 Nov 29. Neurol Sci. 2024. PMID: 38017154
166 results