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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.
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.
The natural history of spinocerebellar ataxia type 1, 2, 3, and 6: a 2-year follow-up study.
Jacobi H, Bauer P, Giunti P, Labrum R, Sweeney MG, Charles P, Dürr A, Marelli C, Globas C, Linnemann C, Schöls L, Rakowicz M, Rola R, Zdzienicka E, Schmitz-Hübsch T, Fancellu R, Mariotti C, Tomasello C, Baliko L, Melegh B, Filla A, Rinaldi C, van de Warrenburg BP, Verstappen CC, Szymanski S, Berciano J, Infante J, Timmann D, Boesch S, Hering S, Depondt C, Pandolfo M, Kang JS, Ratzka S, Schulz J, Tezenas du Montcel S, Klockgether T. Jacobi H, et al. Among authors: fancellu r. Neurology. 2011 Sep 13;77(11):1035-41. doi: 10.1212/WNL.0b013e31822e7ca0. Epub 2011 Aug 10. Neurology. 2011. PMID: 21832228 Free PMC article.
Spinocerebellar ataxia types 1, 2, 3, and 6: disease severity and nonataxia symptoms.
Schmitz-Hübsch T, Coudert M, Bauer P, Giunti P, Globas C, Baliko L, Filla A, Mariotti C, Rakowicz M, Charles P, Ribai P, Szymanski S, Infante J, van de Warrenburg BP, Dürr A, Timmann D, Boesch S, Fancellu R, Rola R, Depondt C, Schöls L, Zdienicka E, Kang JS, Döhlinger S, Kremer B, Stephenson DA, Melegh B, Pandolfo M, di Donato S, du Montcel ST, Klockgether T. Schmitz-Hübsch T, et al. Among authors: fancellu r. Neurology. 2008 Sep 23;71(13):982-9. doi: 10.1212/01.wnl.0000325057.33666.72. Epub 2008 Aug 6. Neurology. 2008. PMID: 18685131 Free article.
SCA Functional Index: a useful compound performance measure for spinocerebellar ataxia.
Schmitz-Hübsch T, Giunti P, Stephenson DA, Globas C, Baliko L, Saccà F, Mariotti C, Rakowicz M, Szymanski S, Infante J, van de Warrenburg BP, Timmann D, Fancellu R, Rola R, Depondt C, Schöls L, Zdzienicka E, Kang JS, Döhlinger S, Kremer B, Melegh B, Filla A, Klockgether T. Schmitz-Hübsch T, et al. Among authors: fancellu r. Neurology. 2008 Aug 12;71(7):486-92. doi: 10.1212/01.wnl.0000324863.76290.19. Neurology. 2008. PMID: 18695159 Clinical Trial.
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