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Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia.
Lyu H, Boßelmann CM, Johannesen KM, Koko M, Ortigoza-Escobar JD, Aguilera-Albesa S, Garcia-Navas Núñez D, Linnankivi T, Gaily E, van Ruiten HJA, Richardson R, Betzler C, Horvath G, Brilstra E, Geerdink N, Orsucci D, Tessa A, Gardella E, Fleszar Z, Schöls L, Lerche H, Møller RS, Liu Y. Lyu H, et al. Among authors: orsucci d. EBioMedicine. 2023 Dec;98:104855. doi: 10.1016/j.ebiom.2023.104855. Epub 2023 Oct 28. EBioMedicine. 2023. PMID: 38251463 Free PMC article.
Mitochondrial DNA haplogroups do not influence the Huntington's disease phenotype.
Mancuso M, Kiferle L, Petrozzi L, Nesti C, Rocchi A, Ceravolo R, Orsucci D, Maluccio MR, Bonuccelli U, Filosto M, Siciliano G, Murri L. Mancuso M, et al. Among authors: orsucci d. Neurosci Lett. 2008 Oct 17;444(1):83-6. doi: 10.1016/j.neulet.2008.08.013. Epub 2008 Aug 8. Neurosci Lett. 2008. PMID: 18706972
Mitochondrial DNA sequence variation and neurodegeneration.
Mancuso M, Filosto M, Orsucci D, Siciliano G. Mancuso M, et al. Among authors: orsucci d. Hum Genomics. 2008 Sep;3(1):71-8. doi: 10.1186/1479-7364-3-1-71. Hum Genomics. 2008. PMID: 19129091 Free PMC article. Review.
93 results