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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: fancellu r. 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.
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: fancellu r. Eur Neurol. 2010;64(1):33-41. doi: 10.1159/000315033. Epub 2010 Jun 30. Eur Neurol. 2010. PMID: 20588047
An overview of the patient with ataxia.
Mariotti C, Fancellu R, Di Donato S. Mariotti C, et al. Among authors: fancellu r. J Neurol. 2005 May;252(5):511-8. doi: 10.1007/s00415-005-0814-z. J Neurol. 2005. PMID: 15895274 Review.
Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients.
Castellotti B, Mariotti C, Rimoldi M, Fancellu R, Plumari M, Caimi S, Uziel G, Nardocci N, Moroni I, Zorzi G, Pareyson D, Di Bella D, Di Donato S, Taroni F, Gellera C. Castellotti B, et al. Among authors: fancellu r. Neurogenetics. 2011 Aug;12(3):193-201. doi: 10.1007/s10048-011-0281-x. Epub 2011 Apr 5. Neurogenetics. 2011. PMID: 21465257
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: fancellu r. 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.
58 results