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2021 | 1 |
2022 | 2 |
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Page 1
Tackling Dysfunction of Mitochondrial Bioenergetics in the Brain.
Int J Mol Sci. 2021 Aug 3;22(15):8325. doi: 10.3390/ijms22158325.
Int J Mol Sci. 2021.
PMID: 34361091
Free PMC article.
Review.
Mitofusin 2 mutation drives cell proliferation in Charcot-Marie-Tooth 2A fibroblasts.
Zanfardino P, Longo G, Amati A, Morani F, Picardi E, Girolamo F, Pafundi M, Cox SN, Manzari C, Tullo A, Doccini S, Santorelli FM, Petruzzella V.
Zanfardino P, et al.
Hum Mol Genet. 2023 Jan 6;32(2):333-350. doi: 10.1093/hmg/ddac201.
Hum Mol Genet. 2023.
PMID: 35994048
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Generation and characterization of CSSi016-A (9938) human pluripotent stem cell line carrying two biallelic variants in MTMR5/SBF1 gene resulting in a case of severe CMT4B3.
Maria Turco E, Maria Giada Giovenale A, Rotundo G, Mazzoni M, Zanfardino P, Frezza K, Torrente I, Mary Carletti R, Damiani D, Santorelli FM, Luigi Vescovi A, Petruzzella V, Rosati J.
Maria Turco E, et al. Among authors: zanfardino p.
Stem Cell Res. 2022 Dec;65:102946. doi: 10.1016/j.scr.2022.102946. Epub 2022 Oct 17.
Stem Cell Res. 2022.
PMID: 36272304
Free article.
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Torin1 restores proliferation rate in Charcot-Marie-Tooth disease type 2A cells harbouring MFN2 (mitofusin 2) mutation.
Zanfardino P, Amati A, Petracca EA, Santorelli FM, Petruzzella V.
Zanfardino P, et al.
Acta Myol. 2022 Dec 31;41(4):201-206. doi: 10.36185/2532-1900-085. eCollection 2022.
Acta Myol. 2022.
PMID: 36793649
Free PMC article.
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OPA1 mutation affects autophagy and triggers senescence in autosomal dominant optic atrophy plus fibroblasts.
Zanfardino P, Amati A, Doccini S, Cox SN, Tullo A, Longo G, D'Erchia A, Picardi E, Nesti C, Santorelli FM, Petruzzella V.
Zanfardino P, et al.
Hum Mol Genet. 2024 Jan 27:ddae008. doi: 10.1093/hmg/ddae008. Online ahead of print.
Hum Mol Genet. 2024.
PMID: 38280232
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A novel mutation in the LRSAM1 gene in a family with early onset autosomal dominant Charcot-Marie-Tooth type 2P.
Milella G, Amati A, Lastella P, Zanfardino P, Petruzzella V, Zoccolella S.
Milella G, et al. Among authors: zanfardino p.
Clin Neurol Neurosurg. 2024 Feb;237:108158. doi: 10.1016/j.clineuro.2024.108158. Epub 2024 Feb 3.
Clin Neurol Neurosurg. 2024.
PMID: 38330802
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