Zanetti N - Search Results

1

Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions.

Marchet S, Legati A, Nasca A, Di Meo I, Spagnolo M, Zanetti N, Lamantea E, Catania A, Lamperti C, Ghezzi D. Marchet S, et al. Among authors: zanetti n. Hum Mutat. 2020 Oct;41(10):1745-1750. doi: 10.1002/humu.24081. Epub 2020 Jul 22. Hum Mutat. 2020. PMID: 32652806

2

Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes.

Torraco A, Ardissone A, Invernizzi F, Rizza T, Fiermonte G, Niceta M, Zanetti N, Martinelli D, Vozza A, Verrigni D, Di Nottia M, Lamantea E, Diodato D, Tartaglia M, Dionisi-Vici C, Moroni I, Farina L, Bertini E, Ghezzi D, Carrozzo R. Torraco A, et al. Among authors: zanetti n. J Neurol. 2017 Jan;264(1):102-111. doi: 10.1007/s00415-016-8312-z. Epub 2016 Oct 26. J Neurol. 2017. PMID: 27785568

3

A Myopathy, Lactic Acidosis, Sideroblastic Anemia (MLASA) Case Due to a Novel PUS1 Mutation.

Kasapkara ÇS, Tümer L, Zanetti N, Ezgü F, Lamantea E, Zeviani M. Kasapkara ÇS, et al. Among authors: zanetti n. Turk J Haematol. 2017 Dec 1;34(4):376-377. doi: 10.4274/tjh.2017.0231. Epub 2017 Aug 23. Turk J Haematol. 2017. PMID: 28832011 Free PMC article. No abstract available.

4

Homozygous variant in OTX2 and possible genetic modifiers identified in a patient with combined pituitary hormone deficiency, ocular involvement, myopathy, ataxia, and mitochondrial impairment.

Catania A, Legati A, Peverelli L, Nanetti L, Marchet S, Zanetti N, Lamperti C, Ghezzi D. Catania A, et al. Among authors: zanetti n. Am J Med Genet A. 2019 May;179(5):827-831. doi: 10.1002/ajmg.a.61092. Epub 2019 Feb 17. Am J Med Genet A. 2019. PMID: 30773800

5

Current and New Next-Generation Sequencing Approaches to Study Mitochondrial DNA.

Legati A, Zanetti N, Nasca A, Peron C, Lamperti C, Lamantea E, Ghezzi D. Legati A, et al. Among authors: zanetti n. J Mol Diagn. 2021 Jun;23(6):732-741. doi: 10.1016/j.jmoldx.2021.03.002. Epub 2021 Mar 26. J Mol Diagn. 2021. PMID: 33781964 Free article.

6

Biallelic Variants in ENDOG Associated with Mitochondrial Myopathy and Multiple mtDNA Deletions.

Nasca A, Legati A, Meneri M, Ermert ME, Frascarelli C, Zanetti N, Garbellini M, Comi GP, Catania A, Lamperti C, Ronchi D, Ghezzi D. Nasca A, et al. Among authors: zanetti n. Cells. 2022 Mar 12;11(6):974. doi: 10.3390/cells11060974. Cells. 2022. PMID: 35326425 Free PMC article.

7

Nanopore long-read next-generation sequencing for detection of mitochondrial DNA large-scale deletions.

Frascarelli C, Zanetti N, Nasca A, Izzo R, Lamperti C, Lamantea E, Legati A, Ghezzi D. Frascarelli C, et al. Among authors: zanetti n. Front Genet. 2023 Jun 29;14:1089956. doi: 10.3389/fgene.2023.1089956. eCollection 2023. Front Genet. 2023. PMID: 37456669 Free PMC article.

8

NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia.

Invernizzi F, Izzo R, Colangelo I, Legati A, Zanetti N, Garavaglia B, Lamantea E, Peverelli L, Ardissone A, Moroni I, Maggi L, Bonanno S, Fiori L, Velardo D, Magri F, Comi GP, Ronchi D, Ghezzi D, Lamperti C. Invernizzi F, et al. Among authors: zanetti n. Genes (Basel). 2023 Jul 2;14(7):1393. doi: 10.3390/genes14071393. Genes (Basel). 2023. PMID: 37510298 Free PMC article.

9

A new family with a case of severe early-onset muscle fatigue and a peculiar maternally inherited painful swelling in chewing muscles associated with homoplasmic m.15992A>T mutation in mitochondrial tRNA^Pro.

Ghirigato E, Terenzi F, Baglivo M, Zanetti N, Baldo F, Murru FM, Bobbo M, Barbi E, Zeviani M, Bruno I, Lamantea E. Ghirigato E, et al. Among authors: zanetti n. Neuromuscul Disord. 2023 Dec;33(12):972-977. doi: 10.1016/j.nmd.2023.11.001. Epub 2023 Nov 4. Neuromuscul Disord. 2023. PMID: 38030461

10

Bone morphogenetic proteins inhibit the tumorigenic potential of human brain tumour-initiating cells.

Piccirillo SG, Reynolds BA, Zanetti N, Lamorte G, Binda E, Broggi G, Brem H, Olivi A, Dimeco F, Vescovi AL. Piccirillo SG, et al. Among authors: zanetti n. Nature. 2006 Dec 7;444(7120):761-5. doi: 10.1038/nature05349. Nature. 2006. PMID: 17151667

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