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Page 1
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: barghigiani m. 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.
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: barghigiani m. Eur J Neurol. 2020 Mar;27(3):498-505. doi: 10.1111/ene.14094. Epub 2019 Nov 1. Eur J Neurol. 2020. PMID: 31571321
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study.
D'Amore A, Tessa A, Casali C, Dotti MT, Filla A, Silvestri G, Antenora A, Astrea G, Barghigiani M, Battini R, Battisti C, Bruno I, Cereda C, Dato C, Di Iorio G, Donadio V, Felicori M, Fini N, Fiorillo C, Gallone S, Gemignani F, Gigli GL, Graziano C, Guerrini R, Gurrieri F, Kariminejad A, Lieto M, Marques LourenḈo C, Malandrini A, Mandich P, Marcotulli C, Mari F, Massacesi L, Melone MAB, Mignarri A, Milone R, Musumeci O, Pegoraro E, Perna A, Petrucci A, Pini A, Pochiero F, Pons MR, Ricca I, Rossi S, Seri M, Stanzial F, Tinelli F, Toscano A, Valente M, Federico A, Rubegni A, Santorelli FM. D'Amore A, et al. Among authors: barghigiani m. Front Neurol. 2018 Dec 4;9:981. doi: 10.3389/fneur.2018.00981. eCollection 2018. Front Neurol. 2018. PMID: 30564185 Free PMC article.
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: barghigiani m. 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
Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants.
Nicita F, Stregapede F, Tessa A, Bassi MT, Jezela-Stanek A, Primiano G, Pizzuti A, Barghigiani M, Nardella M, Zanni G, Servidei S, Astrea G, Panzeri E, Maghini C, Losito L, Ploski R, Gasperowicz P, Santorelli FM, Bertini E, Travaglini L. Nicita F, et al. Among authors: barghigiani m. J Neurol. 2019 Nov;266(11):2657-2664. doi: 10.1007/s00415-019-09466-y. Epub 2019 Jul 13. J Neurol. 2019. PMID: 31302745
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: barghigiani m. 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.
Neuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle Involvement.
Vaisfeld A, Bruno G, Petracca M, Bentivoglio AR, Servidei S, Vita MG, Bove F, Straccia G, Dato C, Di Iorio G, Sampaolo S, Peluso S, De Rosa A, De Michele G, Barghigiani M, Galatolo D, Tessa A, Santorelli F, Chiurazzi P, Melone MAB. Vaisfeld A, et al. Among authors: barghigiani m. Genes (Basel). 2021 Feb 26;12(3):344. doi: 10.3390/genes12030344. Genes (Basel). 2021. PMID: 33652783 Free PMC article. Clinical Trial.
Application of a Clinical Workflow May Lead to Increased Diagnostic Precision in Hereditary Spastic Paraplegias and Cerebellar Ataxias: A Single Center Experience.
Riso V, Rossi S, Nicoletti TF, Tessa A, Travaglini L, Zanni G, Aiello C, Perna A, Barghigiani M, Pomponi MG, Santorelli FM, Silvestri G. Riso V, et al. Among authors: barghigiani m. Brain Sci. 2021 Feb 16;11(2):246. doi: 10.3390/brainsci11020246. Brain Sci. 2021. PMID: 33669240 Free PMC article.
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