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Page 1
The "crab sign": an imaging feature of spinocerebellar ataxia type 48.
Cocozza S, Pontillo G, De Michele G, Perillo T, Guerriero E, Ugga L, Salvatore E, Galatolo D, Riso V, Saccà F, Quarantelli M, Brunetti A. Cocozza S, et al. Among authors: galatolo d. Neuroradiology. 2020 Sep;62(9):1095-1103. doi: 10.1007/s00234-020-02427-7. Epub 2020 Apr 14. Neuroradiology. 2020. PMID: 32285148
Spinocerebellar ataxia 48 presenting with ataxia associated with cognitive, psychiatric, and extrapyramidal features: A report of two Italian families.
De Michele G, Lieto M, Galatolo D, Salvatore E, Cocozza S, Barghigiani M, Tessa A, Baldacci J, Pappatà S, Filla A, De Michele G, Santorelli FM. De Michele G, et al. Among authors: galatolo d. Parkinsonism Relat Disord. 2019 Aug;65:91-96. doi: 10.1016/j.parkreldis.2019.05.001. Epub 2019 May 14. Parkinsonism Relat Disord. 2019. PMID: 31126790
The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families.
Lieto M, Riso V, Galatolo D, De Michele G, Rossi S, Barghigiani M, Cocozza S, Pontillo G, Trovato R, Saccà F, Salvatore E, Tessa A, Filla A, Santorelli FM, De Michele G, Silvestri G. Lieto M, et al. Among authors: galatolo d. Eur J Neurol. 2020 Mar;27(3):498-505. doi: 10.1111/ene.14094. Epub 2019 Nov 1. Eur J Neurol. 2020. PMID: 31571321
Overt Hypogonadism May Not Be a Sentinel Sign of RING Finger Protein 216: Two Novel Mutations Associated with Ataxia, Chorea, and Fertility.
Lieto M, Galatolo D, Roca A, Cocozza S, Pontillo G, Fico T, Pane C, Saccà F, De Michele G, Santorelli FM, Filla A. Lieto M, et al. Among authors: galatolo d. Mov Disord Clin Pract. 2019 Oct 23;6(8):724-726. doi: 10.1002/mdc3.12839. eCollection 2019 Nov. Mov Disord Clin Pract. 2019. PMID: 31745488 Free PMC article. No abstract available.
Expanding the clinical and genetic heterogeneity of SPAX5.
Dosi C, Galatolo D, Rubegni A, Doccini S, Pasquariello R, Nesti C, Sicca F, Barghigiani M, Battini R, Tessa A, Santorelli FM. Dosi C, et al. Among authors: galatolo d. Ann Clin Transl Neurol. 2020 Apr;7(4):595-601. doi: 10.1002/acn3.51024. Epub 2020 Apr 1. Ann Clin Transl Neurol. 2020. PMID: 32237276 Free PMC article.
Spinocerebellar ataxia type 48: last but not least.
De Michele G, Galatolo D, Barghigiani M, Dello Iacovo D, Trovato R, Tessa A, Salvatore E, Filla A, De Michele G, Santorelli FM. De Michele G, et al. Among authors: galatolo d. Neurol Sci. 2020 Sep;41(9):2423-2432. doi: 10.1007/s10072-020-04408-3. Epub 2020 Apr 27. Neurol Sci. 2020. PMID: 32342324 Review.
Ataxia-myoclonus syndrome due to a novel homozygous ATP13A2 mutation.
De Michele G, Galatolo D, Lieto M, Fico T, Saccà F, Santorelli FM, Filla A. De Michele G, et al. Among authors: galatolo d. Parkinsonism Relat Disord. 2020 Jul;76:42-43. doi: 10.1016/j.parkreldis.2020.06.001. Epub 2020 Jun 7. Parkinsonism Relat Disord. 2020. PMID: 32559632 No abstract available.
A next generation sequencing-based analysis of a large cohort of ataxic patients refines the clinical spectrum associated with spinocerebellar ataxia 21.
Riso V, Galatolo D, Barghigiani M, Galosi S, Tessa A, Ricca I, Rossi S, Caputi C, Cioffi E, Leuzzi V, Casali C, Santorelli FM, Silvestri G. Riso V, et al. Among authors: galatolo d. Eur J Neurol. 2021 Aug;28(8):2784-2788. doi: 10.1111/ene.14868. Epub 2021 May 27. Eur J Neurol. 2021. PMID: 33851480 Free PMC article.
35 results