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Year Number of Results
2013 1
2018 1
2019 5
2020 7
2021 8
2022 9
2023 9
2024 3

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36 results

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Page 1
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.
Van de Vondel L, De Winter J, Beijer D, Coarelli G, Wayand M, Palvadeau R, Pauly MG, Klein K, Rautenberg M, Guillot-Noël L, Deconinck T, Vural A, Ertan S, Dogu O, Uysal H, Brankovic V, Herzog R, Brice A, Durr A, Klebe S, Stock F, Bischoff AT, Rattay TW, Sobrido MJ, De Michele G, De Jonghe P, Klopstock T, Lohmann K, Zanni G, Santorelli FM, Timmerman V, Haack TB, Züchner S; PREPARE Consortium; Schüle R, Stevanin G, Synofzik M, Basak AN, Baets J. Van de Vondel L, et al. Among authors: de michele g. Mov Disord. 2022 Jun;37(6):1175-1186. doi: 10.1002/mds.28959. Epub 2022 Feb 12. Mov Disord. 2022. PMID: 35150594 Free PMC article.
NGS in Hereditary Ataxia: When Rare Becomes Frequent.
Galatolo D, De Michele G, Silvestri G, Leuzzi V, Casali C, Musumeci O, Antenora A, Astrea G, Barghigiani M, Battini R, Battisti C, Caputi C, Cioffi E, De Michele G, Dotti MT, Fico T, Fiorillo C, Galosi S, Lieto M, Malandrini A, Melone MAB, Mignarri A, Natale G, Pegoraro E, Petrucci A, Ricca I, Riso V, Rossi S, Rubegni A, Scarlatti A, Tinelli F, Trovato R, Tedeschi G, Tessa A, Filla A, Santorelli FM. Galatolo D, et al. Among authors: de michele g. Int J Mol Sci. 2021 Aug 6;22(16):8490. doi: 10.3390/ijms22168490. Int J Mol Sci. 2021. PMID: 34445196 Free PMC article.
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
Cunha P, Petit E, Coutelier M, Coarelli G, Mariotti C, Faber J, Van Gaalen J, Damasio J, Fleszar Z, Tosi M, Rocca C, De Michele G, Minnerop M, Ewenczyk C, Santorelli FM, Heinzmann A, Bird T, Amprosi M, Indelicato E, Benussi A, Charles P, Stendel C, Romano S, Scarlato M, Le Ber I, Bassi MT, Serrano M, Schmitz-Hübsch T, Doss S, Van Velzen GAJ, Thomas Q, Trabacca A, Ortigoza-Escobar JD, D'Arrigo S, Timmann D, Pantaleoni C, Martinuzzi A, Besse-Pinot E, Marsili L, Cioffi E, Nicita F, Giorgetti A, Moroni I, Romaniello R, Casali C, Ponger P, Casari G, De Bot ST, Ristori G, Blumkin L, Borroni B, Goizet C, Marelli C, Boesch S, Anheim M, Filla A, Houlden H, Bertini E, Klopstock T, Synofzik M, Riant F, Zanni G, Magri S, Di Bella D, Nanetti L, Sequeiros J, Oliveira J, Van de Warrenburg B, Schöls L, Taroni F, Brice A, Durr A. Cunha P, et al. Among authors: de michele g. Am J Hum Genet. 2023 Jul 6;110(7):1098-1109. doi: 10.1016/j.ajhg.2023.05.009. Epub 2023 Jun 9. Am J Hum Genet. 2023. PMID: 37301203 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. 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.
Degenerative and acquired sporadic adult onset ataxia.
Lieto M, Roca A, Santorelli FM, Fico T, De Michele G, Bellofatto M, Saccà F, De Michele G, Filla A. Lieto M, et al. Among authors: de michele g. Neurol Sci. 2019 Jul;40(7):1335-1342. doi: 10.1007/s10072-019-03856-w. Epub 2019 Mar 29. Neurol Sci. 2019. PMID: 30927137 Review.
Ataxia and Hypogonadism: a Review of the Associated Genes and Syndromes.
De Michele G, Maione L, Cocozza S, Tranfa M, Pane C, Galatolo D, De Rosa A, De Michele G, Saccà F, Filla A. De Michele G, et al. Cerebellum. 2024 Apr;23(2):688-701. doi: 10.1007/s12311-023-01549-x. Epub 2023 Mar 30. Cerebellum. 2024. PMID: 36997834 Review.
Incidence and Long-term Functional Outcome of Neurologic Disorders in Hospitalized Patients With COVID-19 Infected With Pre-Omicron Variants.
Beretta S, Cristillo V, Camera G, Morotti Colleoni C, Pellitteri G, Viti B, Bianchi E, Gipponi S, Grimoldi M, Valente M, Guttmann S, Cotelli MS, Palumbo P, Gelosa G, Meletti S, Schenone C, Ottaviani D, Filippi M, Zini A, Basilico P, Tancredi L, Cortelli P, Braga M, De Giuli V, Servidei S, Paolicelli D, Verde F, Caproni S, Pisani A, Lo Re V, Massacesi L, Roccatagliata DV, Manganotti P, Spitaleri D, Formenti A, Piccioli M, Marino S, Polverino P, Aguglia U, Ornello R, Perego E, Siciliano G, Merlo P, Capobianco M, Pantoni L, Lugaresi A, Angelocola S, De Rosa A, Sessa M, Beghi E, Agostoni EC, Monaco S, Padovani A, Priori A, Silani V, Tedeschi G, Ferrarese C; for Neuro-COVID Italy. Beretta S, et al. Neurology. 2023 Aug 29;101(9):e892-e903. doi: 10.1212/WNL.0000000000207534. Epub 2023 Jul 6. Neurology. 2023. PMID: 37414564 Free PMC article.
Of cognition and cerebellum in SCA48.
De Michele G, Salvatore E, Cocozza S, Filla A, Santorelli FM. De Michele G, et al. Neurogenetics. 2020 Apr;21(2):145-146. doi: 10.1007/s10048-020-00603-8. Epub 2020 Feb 3. Neurogenetics. 2020. PMID: 32009217 No abstract available.
A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A.
Torella A, Ricca I, Piluso G, Galatolo D, De Michele G, Zanobio M, Trovato R, De Michele G, Zeuli R, Pane C, Cocozza S, Saccà F, Santorelli FM, Nigro V, Filla A. Torella A, et al. Among authors: de michele g. J Neurol. 2023 Oct;270(10):5057-5063. doi: 10.1007/s00415-023-11816-w. Epub 2023 Jul 7. J Neurol. 2023. PMID: 37418012 Free PMC article.
36 results