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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 Aug 2. doi: 10.1097/WNO.0000000000002223. Online ahead of print. J Neuroophthalmol. 2024. PMID: 39090774
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.
Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial.
Karaa A, Bertini E, Carelli V, Cohen B, Ennes GM, Falk MJ, Goldstein A, Gorman G, Haas R, Hirano M, Klopstock T, Koenig MK, Kornblum C, Lamperti C, Lehman A, Longo N, Molnar MJ, Parikh S, Phan H, Pitceathly RDS, Saneto R, Scaglia F, Servidei S, Tarnopolsky M, Toscano A, Van Hove JLK, Vissing J, Vockley J, Finman JS, Abbruscato A, Brown DA, Sullivan A, Shiffer JA, Mancuso M; MMPOWER-3 Trial Investigators. Karaa A, et al. Among authors: carelli v. Orphanet J Rare Dis. 2024 Nov 21;19(1):431. doi: 10.1186/s13023-024-03421-5. Orphanet J Rare Dis. 2024. PMID: 39574155 Free PMC article. Clinical Trial.
Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder.
Seaby EG, Godwin A, Meyer-Dilhet G, Clerc V, Grand X, Fletcher T, Monteiro L, Kerkhofs M, Carelli V, Palombo F, Seri M, Olivucci G, Grippa M, Ciaccio C, D'Arrigo S, Iascone M, Bermudez M, Fischer J, Di Donato N, Goesswein S, Leung ML, Koboldt DC, Myers C, Arnadottir GA, Stefansson K, Sulem P, Goldberg EM, Bruel AL, Tran Mau Them F, Willems M, Bjornsson HT, Hognason HB, Thorolfsdottir ET, Agolini E, Novelli A, Zampino G, Onesimo R, Lachlan K, Baralle D, Rehm HL, O'Donnell-Luria A, Courchet J, Guille M, Bourgeois CF, Ennis S. Seaby EG, et al. Among authors: carelli v. Brain. 2024 Oct 15:awae320. doi: 10.1093/brain/awae320. Online ahead of print. Brain. 2024. PMID: 39405200
Glutamine Supplementation as a Novel Metabolic Therapeutic Strategy for LIG3-Dependent Chronic Intestinal Pseudo-Obstruction.
Diquigiovanni C, Rizzardi N, Cataldi-Stagetti E, Gozzellino L, Isidori F, Valenti F, Orsini A, Astolfi A, Giangregorio T, Pironi L, Boschetti E, Arrigo S, Maresca A, Magnoni P, Costanzini A, Carelli V, Taniguchi-Ikeda M, Fato R, Bergamini C, De Giorgio R, Bonora E. Diquigiovanni C, et al. Among authors: carelli v. Gastroenterology. 2024 Aug 21:S0016-5085(24)05350-2. doi: 10.1053/j.gastro.2024.08.009. Online ahead of print. Gastroenterology. 2024. PMID: 39173721
462 results