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2015 2
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16 results

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Page 1
Recessive MECR pathogenic variants cause an LHON-like optic neuropathy.
Fiorini C, Degiorgi A, Cascavilla ML, Tropeano CV, La Morgia C, Battista M, Ormanbekova D, Palombo F, Carbonelli M, Bandello F, Carelli V, Maresca A, Barboni P, Baruffini E, Caporali L. Fiorini C, et al. Among authors: ormanbekova d. J Med Genet. 2023 Dec 21;61(1):93-101. doi: 10.1136/jmg-2023-109340. J Med Genet. 2023. PMID: 37734847 Free PMC article.
AFG3L2 and ACO2-Linked Dominant Optic Atrophy: Genotype-Phenotype Characterization Compared to OPA1 Patients.
Amore G, Romagnoli M, Carbonelli M, Cascavilla ML, De Negri AM, Carta A, Parisi V, Di Renzo A, Schiavi C, Lenzetti C, Zenesini C, Ormanbekova D, Palombo F, Fiorini C, Caporali L, Carelli V, Barboni P, La Morgia C. Amore G, et al. Among authors: ormanbekova d. Am J Ophthalmol. 2024 Jun;262:114-124. doi: 10.1016/j.ajo.2024.01.011. Epub 2024 Jan 24. Am J Ophthalmol. 2024. PMID: 38278202 Free article.
Co-occurrence of amyotrophic lateral sclerosis and Leber's hereditary optic neuropathy: is mitochondrial dysfunction a modifier?
Amore G, Vacchiano V, La Morgia C, Valentino ML, Caporali L, Fiorini C, Ormanbekova D, Salvi F, Bartoletti-Stella A, Capellari S, Liguori R, Carelli V. Amore G, et al. Among authors: ormanbekova d. J Neurol. 2023 Jan;270(1):559-564. doi: 10.1007/s00415-022-11355-w. Epub 2022 Sep 6. J Neurol. 2023. PMID: 36066624 Free PMC article. No abstract available.
The Italian reappraisal of the most frequent genetic defects in hereditary optic neuropathies and the global top 10.
Fiorini C, Ormanbekova D, Palombo F, Carbonelli M, Amore G, Romagnoli M, d'Agati P, Valentino ML, Barboni P, Cascavilla ML, De Negri A, Sadun F, Carta A, Testa F, Petruzzella V, Guerriero S, Bianchi Marzoli S, Carelli V, La Morgia C, Caporali L. Fiorini C, et al. Among authors: ormanbekova d. Brain. 2023 Sep 1;146(9):e67-e70. doi: 10.1093/brain/awad080. Brain. 2023. PMID: 36913248 Free PMC article. No abstract available.
Dissecting the multifaceted contribution of the mitochondrial genome to autism spectrum disorder.
Caporali L, Fiorini C, Palombo F, Romagnoli M, Baccari F, Zenesini C, Visconti P, Posar A, Scaduto MC, Ormanbekova D, Battaglia A, Tancredi R, Cameli C, Viggiano M, Olivieri A, Torroni A, Maestrini E, Rochat MJ, Bacchelli E, Carelli V, Maresca A. Caporali L, et al. Among authors: ormanbekova d. Front Genet. 2022 Nov 7;13:953762. doi: 10.3389/fgene.2022.953762. eCollection 2022. Front Genet. 2022. PMID: 36419830 Free PMC article.
Durum wheat genome highlights past domestication signatures and future improvement targets.
Maccaferri M, Harris NS, Twardziok SO, Pasam RK, Gundlach H, Spannagl M, Ormanbekova D, Lux T, Prade VM, Milner SG, Himmelbach A, Mascher M, Bagnaresi P, Faccioli P, Cozzi P, Lauria M, Lazzari B, Stella A, Manconi A, Gnocchi M, Moscatelli M, Avni R, Deek J, Biyiklioglu S, Frascaroli E, Corneti S, Salvi S, Sonnante G, Desiderio F, Marè C, Crosatti C, Mica E, Özkan H, Kilian B, De Vita P, Marone D, Joukhadar R, Mazzucotelli E, Nigro D, Gadaleta A, Chao S, Faris JD, Melo ATO, Pumphrey M, Pecchioni N, Milanesi L, Wiebe K, Ens J, MacLachlan RP, Clarke JM, Sharpe AG, Koh CS, Liang KYH, Taylor GJ, Knox R, Budak H, Mastrangelo AM, Xu SS, Stein N, Hale I, Distelfeld A, Hayden MJ, Tuberosa R, Walkowiak S, Mayer KFX, Ceriotti A, Pozniak CJ, Cattivelli L. Maccaferri M, et al. Among authors: ormanbekova d. Nat Genet. 2019 May;51(5):885-895. doi: 10.1038/s41588-019-0381-3. Epub 2019 Apr 8. Nat Genet. 2019. PMID: 30962619 Free article.
Recurrence of Visual Loss in Recessive Leber Hereditary Optic Neuropathy: New Paradigm.
Barboni P, Battista M, Brotto L, Nucci P, Checchin L, Bandello F, Fiorini C, Ormanbekova D, Carelli V, Cascavilla ML, Caporali L. Barboni P, et al. Among authors: ormanbekova d. J Neuroophthalmol. 2024 Feb 21. doi: 10.1097/WNO.0000000000002117. Online ahead of print. J Neuroophthalmol. 2024. PMID: 38381526 No abstract available.
Two more families supporting the existence of monogenic spinocerebellar ataxia 48.
Palombo F, Vaisfeld A, Tropeano VC, Ormanbekova D, Bacchi I, Fiorini C, Peruzzi A, Morandi L, Liguori R, Carelli V, Rizzo G. Palombo F, et al. Among authors: ormanbekova d. Neurogenetics. 2024 Jul;25(3):277-280. doi: 10.1007/s10048-024-00758-8. Epub 2024 Apr 16. Neurogenetics. 2024. PMID: 38625442
16 results