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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: santorelli fm. 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.
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.
Saffari A, Kellner M, Jordan C, Rosengarten H, Mo A, Zhang B, Strelko O, Neuser S, Davis MY, Yoshikura N, Futamura N, Takeuchi T, Nabatame S, Ishiura H, Tsuji S, Aldeen HS, Cali E, Rocca C, Houlden H, Efthymiou S, Assmann B, Yoon G, Trombetta BA, Kivisäkk P, Eichler F, Nan H, Takiyama Y, Tessa A, Santorelli FM, Sahin M, Blackstone C, Yang E, Schüle R, Ebrahimi-Fakhari D. Saffari A, et al. Among authors: santorelli fm. Brain. 2023 May 2;146(5):2003-2015. doi: 10.1093/brain/awac391. Brain. 2023. PMID: 36315648 Free PMC article.
Converging Role for REEP1/SPG31 in Oxidative Stress.
Naef V, Meschini MC, Tessa A, Morani F, Corsinovi D, Ogi A, Marchese M, Ori M, Santorelli FM, Doccini S. Naef V, et al. Among authors: santorelli fm. Int J Mol Sci. 2023 Feb 9;24(4):3527. doi: 10.3390/ijms24043527. Int J Mol Sci. 2023. PMID: 36834939 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: santorelli fm. 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.
Primary Coenzyme Q10 Deficiency-Related Ataxias.
Lopriore P, Vista M, Tessa A, Giuntini M, Caldarazzo Ienco E, Mancuso M, Siciliano G, Santorelli FM, Orsucci D. Lopriore P, et al. Among authors: santorelli fm. J Clin Med. 2024 Apr 19;13(8):2391. doi: 10.3390/jcm13082391. J Clin Med. 2024. PMID: 38673663 Free PMC article. Review.
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: santorelli fm. 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.
622 results