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Page 1
CACNA1G Causes Dominantly Inherited Myoclonus-Ataxia with Intellectual Disability: A Case Report.
De Riggi M, De Giorgi A, Pollini L, Angelini L, Paparella G, Cannavacciuolo A, Birreci D, Costa D, Tessa A, Natale G, Fiorelli M, Galatolo D, Santorelli FM, Galosi S, Bologna M. De Riggi M, et al. Among authors: galatolo d. Cerebellum. 2024 Dec;23(6):2679-2683. doi: 10.1007/s12311-024-01734-6. Epub 2024 Sep 17. Cerebellum. 2024. PMID: 39287920 Free PMC article.
Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases.
Alstrup M, Cesca F, Krawczun-Rygmaczewska A, López-Menéndez C, Pose-Utrilla J, Castberg FC, Bjerager MO, Finnila C, Kruer MC, Bakhtiari S, Padilla-Lopez S, Manwaring L, Keren B, Afenjar A, Galatolo D, Scalise R, Santorelli FM, Shillington A, Vezain M, Martinovic J, Stevens C, Gowda VK, Srinivasan VM, Thiffault I, Pastinen T, Baranano K, Lee A, Granadillo J, Glassford MR, Keegan CE, Matthews N, Saugier-Veber P, Iglesias T, Østergaard E. Alstrup M, et al. Among authors: galatolo d. Genet Med. 2024 Nov;26(11):101219. doi: 10.1016/j.gim.2024.101219. Epub 2024 Jul 18. Genet Med. 2024. PMID: 39033379
Targeting autophagy impairment improves the phenotype of a novel CLN8 zebrafish model.
Marchese M, Bernardi S, Ogi A, Licitra R, Silvi G, Mero S, Galatolo D, Gammaldi N, Doccini S, Ratto GM, Rapposelli S, Neuhauss SCF, Zang J, Rocchiccioli S, Michelucci E, Ceccherini E, Santorelli FM. Marchese M, et al. Among authors: galatolo d. Neurobiol Dis. 2024 Jul;197:106536. doi: 10.1016/j.nbd.2024.106536. Epub 2024 May 17. Neurobiol Dis. 2024. PMID: 38763444 Free PMC article.
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: galatolo d. 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.
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. Among authors: galatolo d. Cerebellum. 2024 Apr;23(2):688-701. doi: 10.1007/s12311-023-01549-x. Epub 2023 Mar 30. Cerebellum. 2024. PMID: 36997834 Review.
36 results