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Page 1
Theragnosis for Duchenne Muscular Dystrophy.
Front Pharmacol. 2021 Jun 3;12:648390. doi: 10.3389/fphar.2021.648390. eCollection 2021.
Front Pharmacol. 2021.
PMID: 34149409
Free PMC article.
Predicting pathogenicity for novel hearing loss mutations based on genetic and protein structure approaches.
Buonfiglio PI, Bruque CD, Lotersztein V, Luce L, Giliberto F, Menazzi S, Francipane L, Paoli B, Goldschmidt E, Elgoyhen AB, Dalamón V.
Buonfiglio PI, et al.
Sci Rep. 2022 Jan 7;12(1):301. doi: 10.1038/s41598-021-04081-2.
Sci Rep. 2022.
PMID: 34997062
Free PMC article.
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Mitochondrial DNA variants in a cohort from Argentina with suspected Leber's hereditary optic neuropathy (LHON).
Buonfiglio PI, Menazzi S, Francipane L, Lotersztein V, Ferreiro V, Elgoyhen AB, Dalamón V.
Buonfiglio PI, et al.
PLoS One. 2023 Feb 24;18(2):e0275703. doi: 10.1371/journal.pone.0275703. eCollection 2023.
PLoS One. 2023.
PMID: 36827238
Free PMC article.
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Novel Pathogenic Variants in the Gene Encoding Stereocilin (STRC) Causing Non-Syndromic Moderate Hearing Loss in Spanish and Argentinean Subjects.
Domínguez-Ruiz M, Ruiz-Palmero L, Buonfiglio PI, García-Vaquero I, Gómez-Rosas E, Goñi M, Villamar M, Morín M, Moreno-Pelayo MA, Elgoyhen AB, Del Castillo FJ, Dalamón V, Del Castillo I.
Domínguez-Ruiz M, et al. Among authors: buonfiglio pi.
Biomedicines. 2023 Oct 31;11(11):2943. doi: 10.3390/biomedicines11112943.
Biomedicines. 2023.
PMID: 38001944
Free PMC article.
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