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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: di bella d. 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.
Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.
Di Bella D, Lazzaro F, Brusco A, Plumari M, Battaglia G, Pastore A, Finardi A, Cagnoli C, Tempia F, Frontali M, Veneziano L, Sacco T, Boda E, Brussino A, Bonn F, Castellotti B, Baratta S, Mariotti C, Gellera C, Fracasso V, Magri S, Langer T, Plevani P, Di Donato S, Muzi-Falconi M, Taroni F. Di Bella D, et al. Among authors: di donato s. Nat Genet. 2010 Apr;42(4):313-21. doi: 10.1038/ng.544. Epub 2010 Mar 7. Nat Genet. 2010. PMID: 20208537
ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype.
Nanetti L, Sarto E, Castaldo A, Magri S, Mongelli A, Rossi Sebastiano D, Canafoglia L, Grisoli M, Malaguti C, Rivieri F, D'Amico MC, Di Bella D, Franceschetti S, Mariotti C, Taroni F. Nanetti L, et al. Among authors: di bella d, d amico mc. J Neurol. 2019 Feb;266(2):378-385. doi: 10.1007/s00415-018-9141-z. Epub 2018 Dec 4. J Neurol. 2019. PMID: 30515630
Predictive genetic tests in neurodegenerative disorders: a methodological approach integrating psychological counseling for at-risk individuals and referring clinicians.
Mariotti C, Ferruta A, Gellera C, Nespolo C, Fancellu R, Genitrini S, Di Bella D, Panzeri M, Nanetti L, Tomasello C, Taroni F, Foresti G, Astori S. Mariotti C, et al. Among authors: di bella d. Eur Neurol. 2010;64(1):33-41. doi: 10.1159/000315033. Epub 2010 Jun 30. Eur Neurol. 2010. PMID: 20588047
Hypomyelinating leukodystrophies in adults: Clinical and genetic features.
Di Bella D, Magri S, Benzoni C, Farina L, Maccagnano C, Sarto E, Moscatelli M, Baratta S, Ciano C, Piacentini SHMJ, Draghi L, Mauro E, Pareyson D, Gellera C, Taroni F, Salsano E. Di Bella D, et al. Eur J Neurol. 2021 Mar;28(3):934-944. doi: 10.1111/ene.14646. Epub 2020 Dec 3. Eur J Neurol. 2021. PMID: 33190326
Multifaceted and Age-Dependent Phenotypes Associated With Biallelic PNPLA6 Gene Variants: Eight Novel Cases and Review of the Literature.
Nanetti L, Di Bella D, Magri S, Fichera M, Sarto E, Castaldo A, Mongelli A, Baratta S, Fenu S, Moscatelli M, Bonati MT, Martinuzzi A, Mariotti C, Taroni F. Nanetti L, et al. Among authors: di bella d. Front Neurol. 2022 Jan 6;12:793547. doi: 10.3389/fneur.2021.793547. eCollection 2021. Front Neurol. 2022. PMID: 35069422 Free PMC article.
131 results