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2013 1
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Page 1
Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome.
Amenta S, Frangella S, Marangi G, Lattante S, Ricciardi S, Doronzio PN, Orteschi D, Veredice C, Contaldo I, Zampino G, Gentile M, Scarano E, Graziano C, Zollino M. Amenta S, et al. Among authors: doronzio pn. J Med Genet. 2022 Feb;59(2):189-195. doi: 10.1136/jmedgenet-2020-107225. Epub 2020 Dec 24. J Med Genet. 2022. PMID: 33361104
LETM1 couples mitochondrial DNA metabolism and nutrient preference.
Durigon R, Mitchell AL, Jones AW, Manole A, Mennuni M, Hirst EM, Houlden H, Maragni G, Lattante S, Doronzio PN, Dalla Rosa I, Zollino M, Holt IJ, Spinazzola A. Durigon R, et al. Among authors: doronzio pn. EMBO Mol Med. 2018 Sep;10(9):e8550. doi: 10.15252/emmm.201708550. EMBO Mol Med. 2018. PMID: 30012579 Free PMC article.
Analysis of STMN2 CA repeats in italian ALS patients shows no association.
Doronzio PN, Lattante S, Marangi G, Martello F, Conte A, Bisogni G, Bernardo D, Patanella AK, Meleo E, Zollino M, Sabatelli M. Doronzio PN, et al. Amyotroph Lateral Scler Frontotemporal Degener. 2023 Feb;24(1-2):152-154. doi: 10.1080/21678421.2022.2102430. Epub 2022 Jul 23. Amyotroph Lateral Scler Frontotemporal Degener. 2023. PMID: 35876065
Evaluating the contribution of the gene TARDBP in Italian patients with amyotrophic lateral sclerosis.
Lattante S, Sabatelli M, Bisogni G, Marangi G, Doronzio PN, Martello F, Renzi AG, Del Giudice E, Leon A, Cimbolli P, Marchione D, Costantino U, Lucioli G, Bernardo D, Meleo E, Patanella AK, Romano A, Zollino M, Conte A. Lattante S, et al. Among authors: doronzio pn. Eur J Neurol. 2023 May;30(5):1246-1255. doi: 10.1111/ene.15727. Epub 2023 Feb 23. Eur J Neurol. 2023. PMID: 36732882
Generation of an induced pluripotent stem cell line (UCSCi002-A) from a patient with a variant in TARDBP gene associated with familial amyotrophic lateral sclerosis and frontotemporal dementia.
Martello F, Lattante S, Doronzio PN, Conte A, Bisogni G, Orteschi D, Luigetti M, Marrucci MA, Zollino M, Sabatelli M, Marangi G. Martello F, et al. Among authors: doronzio pn. Stem Cell Res. 2022 Jul;62:102825. doi: 10.1016/j.scr.2022.102825. Epub 2022 Jun 1. Stem Cell Res. 2022. PMID: 35667216 Free article.
Matrin 3 variants are frequent in Italian ALS patients.
Marangi G, Lattante S, Doronzio PN, Conte A, Tasca G, Monforte M, Patanella AK, Bisogni G, Meleo E, La Spada S, Zollino M, Sabatelli M. Marangi G, et al. Among authors: doronzio pn. Neurobiol Aging. 2017 Jan;49:218.e1-218.e7. doi: 10.1016/j.neurobiolaging.2016.09.023. Epub 2016 Oct 6. Neurobiol Aging. 2017. PMID: 28029397
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