Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

466 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
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: carelli v. 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.
Optic Disc Classification by Deep Learning versus Expert Neuro-Ophthalmologists.
Biousse V, Newman NJ, Najjar RP, Vasseneix C, Xu X, Ting DS, Milea LB, Hwang JM, Kim DH, Yang HK, Hamann S, Chen JJ, Liu Y, Wong TY, Milea D; BONSAI (Brain and Optic Nerve Study with Artificial Intelligence) Study Group. Biousse V, et al. Ann Neurol. 2020 Oct;88(4):785-795. doi: 10.1002/ana.25839. Epub 2020 Aug 7. Ann Neurol. 2020. PMID: 32621348
The BONSAI (Brain and Optic Nerve Study with Artificial Intelligence) deep learning system can accurately identify pediatric papilledema on standard ocular fundus photographs.
Lin MY, Najjar RP, Tang Z, Cioplean D, Dragomir M, Chia A, Patil A, Vasseneix C, Peragallo JH, Newman NJ, Biousse V, Milea D; BONSAI (Brain and Optic Nerve Study with Artificial Intelligence) group. Lin MY, et al. J AAPOS. 2024 Feb;28(1):103803. doi: 10.1016/j.jaapos.2023.10.005. Epub 2024 Jan 10. J AAPOS. 2024. PMID: 38216117
A Deep Learning Approach for Accurate Discrimination Between Optic Disc Drusen and Papilledema on Fundus Photographs.
Sathianvichitr K, Najjar RP, Zhiqun T, Fraser JA, Yau CWL, Girard MJA, Costello F, Lin MY, Lagrèze WA, Vignal-Clermont C, Fraser CL, Hamann S, Newman NJ, Biousse V, Milea D; BONSAI Group. Sathianvichitr K, et al. J Neuroophthalmol. 2024 Dec 1;44(4):454-461. doi: 10.1097/WNO.0000000000002223. Epub 2024 Aug 2. J Neuroophthalmol. 2024. PMID: 39090774
Clinical study of ferredoxin-reductase-related mitochondriopathy: Genotype-phenotype correlation and proposal of ancestry-based carrier screening in the Mexican population.
Campbell T, Slone J, Metzger H, Liu W, Sacharow S, Yang A, Moosajee M, La Morgia C, Carelli V, Palombo F, Lines MA, Innes AM, Levy RJ, Neilson D, Longo N, Huang T. Campbell T, et al. Among authors: carelli v. Genet Med Open. 2023 Nov 11;2:100841. doi: 10.1016/j.gimo.2023.100841. eCollection 2024. Genet Med Open. 2023. PMID: 39669623 Free PMC article.
Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project.
Karaa A, Rahman S, Lombès A, Yu-Wai-Man P, Sheikh MK, Alai-Hansen S, Cohen BH, Dimmock D, Emrick L, Falk MJ, McCormack S, Mirsky D, Moore T, Parikh S, Shoffner J, Taivassalo T, Tarnopolsky M, Tein I, Odenkirchen JC, Goldstein A; Mito Working Group Member Participants:. Karaa A, et al. J Inherit Metab Dis. 2017 May;40(3):403-414. doi: 10.1007/s10545-017-0035-5. Epub 2017 Mar 16. J Inherit Metab Dis. 2017. PMID: 28303425 Free PMC article.
Effectiveness and Impact of Transcript Analysis in Clinical Genetics Daily Practice.
Innella G, Coccia E, Cristalli CP, Zacchi E, Calabrese S, Bacchi I, Palombo F, Taormina S, Evangelisti C, Lanzoni G, Carelli V, Diquigiovanni C, Ferrari S, Panza E, Rossi C, Vaisfeld A, Bonora E, Turchetti D. Innella G, et al. Among authors: carelli v. Clin Genet. 2024 Dec 21. doi: 10.1111/cge.14684. Online ahead of print. Clin Genet. 2024. PMID: 39707869
Five-Year Outcomes of Lenadogene Nolparvovec Gene Therapy in Leber Hereditary Optic Neuropathy.
Yu-Wai-Man P, Newman NJ, Biousse V, Carelli V, Moster ML, Vignal-Clermont C, Klopstock T, Sadun AA, Sergott RC, Hage R, Degli Esposti S, La Morgia C, Priglinger C, Karanja R, Taiel M, Sahel JA; LHON Study Group. Yu-Wai-Man P, et al. Among authors: carelli v. JAMA Ophthalmol. 2024 Dec 19. doi: 10.1001/jamaophthalmol.2024.5375. Online ahead of print. JAMA Ophthalmol. 2024. PMID: 39699886
466 results