Catania A - Search Results

1

Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy.

Aleo SJ, Del Dotto V, Romagnoli M, Fiorini C, Capirossi G, Peron C, Maresca A, Caporali L, Capristo M, Tropeano CV, Zanna C, Ross-Cisneros FN, Sadun AA, Pignataro MG, Giordano C, Fasano C, Cavaliere A, Porcelli AM, Tioli G, Musiani F, Catania A, Lamperti C, Marzoli SB, De Negri A, Cascavilla ML, Battista M, Barboni P, Carbonelli M, Amore G, La Morgia C, Smirnov D, Vasilescu C, Farzeen A, Blickhaeuser B, Prokisch H, Priglinger C, Livonius B, Catarino CB, Klopstock T, Tiranti V, Carelli V, Ghelli AM. Aleo SJ, et al. Among authors: catania a. Cell Rep Med. 2024 Feb 20;5(2):101383. doi: 10.1016/j.xcrm.2023.101383. Epub 2024 Jan 24. Cell Rep Med. 2024. PMID: 38272025 Free PMC article.

2

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. 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

3

DNMT1-complex disorder caused by a novel mutation associated with an overlapping phenotype of autosomal-dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) and hereditary sensory neuropathy with dementia and hearing loss (HSN1E).

Catania A, Peverelli L, Tabano S, Ghezzi D, Lamperti C. Catania A, et al. Neurol Sci. 2019 Sep;40(9):1963-1966. doi: 10.1007/s10072-019-03859-7. Epub 2019 Mar 25. Neurol Sci. 2019. PMID: 30911858 No abstract available.

4

Arabidopsis thaliana alternative dehydrogenases: a potential therapy for mitochondrial complex I deficiency? Perspectives and pitfalls.

Catania A, Iuso A, Bouchereau J, Kremer LS, Paviolo M, Terrile C, Bénit P, Rasmusson AG, Schwarzmayr T, Tiranti V, Rustin P, Rak M, Prokisch H, Schiff M. Catania A, et al. Orphanet J Rare Dis. 2019 Oct 29;14(1):236. doi: 10.1186/s13023-019-1185-3. Orphanet J Rare Dis. 2019. PMID: 31665043 Free PMC article.

5

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: catania a. Hum Mutat. 2020 Oct;41(10):1745-1750. doi: 10.1002/humu.24081. Epub 2020 Jul 22. Hum Mutat. 2020. PMID: 32652806

6

Leber's Hereditary Optic Neuropathy: A Report on Novel mtDNA Pathogenic Variants.

Peverelli L, Catania A, Marchet S, Ciasca P, Cammarata G, Melzi L, Bellino A, Fancellu R, Lamantea E, Capristo M, Caporali L, La Morgia C, Carelli V, Ghezzi D, Bianchi Marzoli S, Lamperti C. Peverelli L, et al. Among authors: catania a. Front Neurol. 2021 Jun 9;12:657317. doi: 10.3389/fneur.2021.657317. eCollection 2021. Front Neurol. 2021. PMID: 34177762 Free PMC article.

7

The m.3890G>A/MT-ND1 mtDNA rare pathogenic variant: Expanding clinical and MRI phenotypes.

Vacchiano V, Caporali L, La Morgia C, Carbonelli M, Amore G, Bartolomei I, Cascavilla ML, Barboni P, Lamperti C, Catania A, Chan JW, Karanja R, Sadun AA, Liguori R, Bianchi A, Gavazzi G, Mascalchi M, Salvi F, Carelli V. Vacchiano V, et al. Among authors: catania a. Mitochondrion. 2021 Sep;60:142-149. doi: 10.1016/j.mito.2021.08.007. Epub 2021 Aug 11. Mitochondrion. 2021. PMID: 34390870

8

Evaluation of Mitochondrial Dysfunction and Idebenone Responsiveness in Fibroblasts from Leber's Hereditary Optic Neuropathy (LHON) Subjects.

Baglivo M, Nasca A, Lamantea E, Vinci S, Spagnolo M, Marchet S, Prokisch H, Catania A, Lamperti C, Ghezzi D. Baglivo M, et al. Among authors: catania a. Int J Mol Sci. 2023 Aug 8;24(16):12580. doi: 10.3390/ijms241612580. Int J Mol Sci. 2023. PMID: 37628761 Free PMC article.

9

A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies.

Sala D, Marchet S, Nanetti L, Legati A, Mariotti C, Lamantea E, Ghezzi D, Catania A, Lamperti C. Sala D, et al. Among authors: catania a. Orphanet J Rare Dis. 2024 May 16;19(1):200. doi: 10.1186/s13023-024-03212-y. Orphanet J Rare Dis. 2024. PMID: 38755691 Free PMC article.

10

R106C TFG variant causes infantile neuroaxonal dystrophy "plus" syndrome.

Catania A, Battini R, Pippucci T, Pasquariello R, Chiapparini ML, Seri M, Garavaglia B, Zorzi G, Nardocci N, Ghezzi D, Tiranti V. Catania A, et al. Neurogenetics. 2018 Aug;19(3):179-187. doi: 10.1007/s10048-018-0552-x. Epub 2018 Jul 3. Neurogenetics. 2018. PMID: 29971521

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