Vincent A - Search Results

1

Ocular phenotype and electroretinogram abnormalities in Lafora disease and correlation with disease stage.

Orsini A, Ferrari D, Riva A, Santangelo A, Macrì A, Freri E, Canafoglia L, D'Aniello A, Di Gennaro G, Massimetti G, Minetti C, Zara F, Michelucci R, Tumber A, Vincent A, Minassian BA, Striano P. Orsini A, et al. Among authors: vincent a. J Neurol. 2022 Jul;269(7):3597-3604. doi: 10.1007/s00415-022-10974-7. Epub 2022 Feb 20. J Neurol. 2022. PMID: 35184210 Free PMC article.

2

Ocular phenotype and electroretinogram abnormalities in Lafora disease: A "window to the brain".

Vincent A, Macrì A, Tumber A, Koukas N, Ahonen S, Striano P, Minassian B. Vincent A, et al. Neurology. 2018 Jul 17;91(3):137-139. doi: 10.1212/WNL.0000000000005821. Epub 2018 Jun 15. Neurology. 2018. PMID: 29907606 Free PMC article. No abstract available.

3

Evaluation of light- and dark-adapted ERGs using a mydriasis-free, portable system: clinical classifications and normative data.

Liu H, Ji X, Dhaliwal S, Rahman SN, McFarlane M, Tumber A, Locke J, Wright T, Vincent A, Westall C. Liu H, et al. Among authors: vincent a. Doc Ophthalmol. 2018 Dec;137(3):169-181. doi: 10.1007/s10633-018-9660-z. Epub 2018 Oct 24. Doc Ophthalmol. 2018. PMID: 30357588

4

Unique retinal signaling defect in GNB5-related disease.

Shao Z, Tumber A, Maynes J, Tavares E, Kannu P, Heon E, Vincent A. Shao Z, et al. Among authors: vincent a. Doc Ophthalmol. 2020 Jun;140(3):273-277. doi: 10.1007/s10633-019-09735-1. Epub 2019 Nov 12. Doc Ophthalmol. 2020. PMID: 31720979

5

Rod bipolar cell dysfunction in POLG retinopathy.

Sanderson KG, Millar E, Tumber A, Klatt R, Sondheimer N, Vincent A. Sanderson KG, et al. Among authors: vincent a. Doc Ophthalmol. 2021 Feb;142(1):111-118. doi: 10.1007/s10633-020-09777-w. Epub 2020 Jun 21. Doc Ophthalmol. 2021. PMID: 32567010

6

CRB1-related retinopathy overlapping the ocular phenotype of S-adenosylhomocysteine hydrolase deficiency.

Grudzinska Pechhacker MK, Di Scipio M, Vig A, Tumber A, Roslin N, Tavares E, Vincent A, Hèon E. Grudzinska Pechhacker MK, et al. Among authors: vincent a. Ophthalmic Genet. 2020 Oct;41(5):457-464. doi: 10.1080/13816810.2020.1790013. Epub 2020 Jul 20. Ophthalmic Genet. 2020. PMID: 32689861

7

Optic Atrophy and Inner Retinal Thinning in CACNA1F-related Congenital Stationary Night Blindness.

Leahy KE, Wright T, Grudzinska Pechhacker MK, Audo I, Tumber A, Tavares E, MacDonald H, Locke J, VandenHoven C, Zeitz C, Heon E, Buncic JR, Vincent A. Leahy KE, et al. Among authors: vincent a. Genes (Basel). 2021 Feb 25;12(3):330. doi: 10.3390/genes12030330. Genes (Basel). 2021. PMID: 33668843 Free PMC article.

8

Retinal alterations in patients with Lafora disease.

Heitkotter H, Linderman RE, Cava JA, Woertz EN, Mastey RR, Summerfelt P, Chui TY, Rosen RB, Patterson EJ, Vincent A, Carroll J, Minassian BA. Heitkotter H, et al. Among authors: vincent a. Am J Ophthalmol Case Rep. 2021 Jun 15;23:101146. doi: 10.1016/j.ajoc.2021.101146. eCollection 2021 Sep. Am J Ophthalmol Case Rep. 2021. PMID: 34195479 Free PMC article.

9

Extended Phenotyping and Functional Validation Facilitate Diagnosis of a Complex Patient Harboring Genetic Variants in MCCC1 and GNB5 Causing Overlapping Phenotypes.

Shao Z, Masuho I, Tumber A, Maynes JT, Tavares E, Ali A, Hewson S, Schulze A, Kannu P, Martemyanov KA, Vincent A. Shao Z, et al. Among authors: vincent a. Genes (Basel). 2021 Aug 29;12(9):1352. doi: 10.3390/genes12091352. Genes (Basel). 2021. PMID: 34573334 Free PMC article.

10

Unilateral cataract and congenital stationary night blindness in a child with novel variants in TRPM1.

Saleh E, Pechhacker MG, Vig A, Mehta M, Maynes J, Tumber A, Tavares E, Vincent A, Mireskandari K, Heon E. Saleh E, et al. Among authors: vincent a. J AAPOS. 2022 Aug;26(4):202-205. doi: 10.1016/j.jaapos.2022.03.013. Epub 2022 Jul 21. J AAPOS. 2022. PMID: 35872165 Free article.

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