Nesti C - Search Results

1

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. Among authors: nesti c. Hum Mol Genet. 2024 Apr 18;33(9):768-786. doi: 10.1093/hmg/ddae008. Hum Mol Genet. 2024. PMID: 38280232

2

Additive effect of nuclear and mitochondrial mutations in a patient with mitochondrial encephalomyopathy.

Nesti C, Meschini MC, Meunier B, Sacchini M, Doccini S, Romano A, Petrillo S, Pezzini I, Seddiki N, Rubegni A, Piemonte F, Donati MA, Brasseur G, Santorelli FM. Nesti C, et al. Hum Mol Genet. 2015 Jun 1;24(11):3248-56. doi: 10.1093/hmg/ddv078. Epub 2015 Mar 3. Hum Mol Genet. 2015. PMID: 25736212

3

Optic Atrophy and Generalized Chorea in a Patient Harboring an OPA10/RTN4IP1 Pathogenic Variant.

Giacomini T, Gamucci A, Pisciotta L, Nesti C, Fiorillo C, Doccini S, Morana G, Nobili L, Santorelli FM, Mancardi MM, De Grandis E. Giacomini T, et al. Among authors: nesti c. Neuropediatrics. 2020 Dec;51(6):425-429. doi: 10.1055/s-0040-1708539. Epub 2020 May 11. Neuropediatrics. 2020. PMID: 32392611

4

Bi-allelic variants in MDH2: Expanding the clinical phenotype.

Ticci C, Nesti C, Rubegni A, Doccini S, Baldacci J, Dal Canto F, Ragni L, Cordelli DM, Donati MA, Santorelli FM. Ticci C, et al. Among authors: nesti c. Clin Genet. 2022 Feb;101(2):260-264. doi: 10.1111/cge.14088. Epub 2021 Nov 22. Clin Genet. 2022. PMID: 34766628

5

Novel COX11 Mutations Associated with Mitochondrial Disorder: Functional Characterization in Patient Fibroblasts and Saccharomyces cerevisiae.

Caron-Godon CA, Della Vecchia S, Romano A, Doccini S, Dal Canto F, Pasquariello R, Rubegni A, Battini R, Santorelli FM, Glerum DM, Nesti C. Caron-Godon CA, et al. Among authors: nesti c. Int J Mol Sci. 2023 Nov 23;24(23):16636. doi: 10.3390/ijms242316636. Int J Mol Sci. 2023. PMID: 38068960 Free PMC article.

6

Intrafamilial "DOA-plus" phenotype variability related to different OMI/HTRA2 expression.

Napolitano F, Terracciano C, Bruno G, Nesti C, Barillari MR, Barillari U, Santorelli FM, Melone MAB, Esposito T, Sampaolo S. Napolitano F, et al. Among authors: nesti c. Am J Med Genet A. 2020 Jan;182(1):176-182. doi: 10.1002/ajmg.a.61381. Epub 2019 Oct 14. Am J Med Genet A. 2020. PMID: 31609081

7

Expanding the clinical and genetic heterogeneity of SPAX5.

Dosi C, Galatolo D, Rubegni A, Doccini S, Pasquariello R, Nesti C, Sicca F, Barghigiani M, Battini R, Tessa A, Santorelli FM. Dosi C, et al. Among authors: nesti c. Ann Clin Transl Neurol. 2020 Apr;7(4):595-601. doi: 10.1002/acn3.51024. Epub 2020 Apr 1. Ann Clin Transl Neurol. 2020. PMID: 32237276 Free PMC article.

8

Proteomic and functional analyses in disease models reveal CLN5 protein involvement in mitochondrial dysfunction.

Doccini S, Morani F, Nesti C, Pezzini F, Calza G, Soliymani R, Signore G, Rocchiccioli S, Kanninen KM, Huuskonen MT, Baumann MH, Simonati A, Lalowski MM, Santorelli FM. Doccini S, et al. Among authors: nesti c. Cell Death Discov. 2020 Mar 30;6:18. doi: 10.1038/s41420-020-0250-y. eCollection 2020. Cell Death Discov. 2020. PMID: 32257390 Free PMC article.

9

A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis?

Gotta F, Lamp M, Geroldi A, Trevisan L, Origone P, Fugazza G, Fabbri S, Nesti C, Rubegni A, Morani F, Santorelli FM, Bellone E, Mandich P. Gotta F, et al. Among authors: nesti c. Ann Hum Genet. 2020 Sep;84(5):417-422. doi: 10.1111/ahg.12384. Epub 2020 Apr 12. Ann Hum Genet. 2020. PMID: 32281099

10

Recurrent Sensory-Motor Neuropathy Mimicking CIDP as Predominant Presentation of PDH Deficiency.

Croci C, Cataldi M, Baratto S, Bruno C, Trucco F, Doccini S, Romano A, Nesti C, Santorelli FM, Fiorillo C. Croci C, et al. Among authors: nesti c. Neuropediatrics. 2023 Jun;54(3):211-216. doi: 10.1055/a-2018-4845. Epub 2023 Jan 24. Neuropediatrics. 2023. PMID: 36693417

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