Detalhe da pesquisa
1.
Late-onset mucopolysaccharidosis type IIIA mimicking Usher syndrome.
Am J Med Genet A
; 194(5): e63517, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38149346
2.
Changes in Circulating Acylated Ghrelin and Neutrophil Elastase in Diabetic Retinopathy.
Medicina (Kaunas)
; 60(1)2024 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38256379
3.
Inhibition of Galectins and the P2X7 Purinergic Receptor as a Therapeutic Approach in the Neurovascular Inflammation of Diabetic Retinopathy.
Int J Mol Sci
; 24(11)2023 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37298672
4.
Brolucizumab Intravitreal Injections for Wet Age-Related Macular Degeneration: Real-Life Study on a Cohort of Italian Patients.
Medicina (Kaunas)
; 59(6)2023 Jun 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37374314
5.
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs.
Hum Mol Genet
; 29(13): 2250-2260, 2020 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32533184
6.
THE TARGET SIGN: A Near Infrared Feature and Multimodal Imaging in a Pluri-Ethnic Cohort with RDH5-Related Fundus Albipunctatus.
Retina
; 42(7): 1364-1369, 2022 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35250012
7.
Resolution of Inflammation in Retinal Disorders: Briefly the State.
Int J Mol Sci
; 23(9)2022 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35562891
8.
Systemic Beta-Hydroxybutyrate Affects BDNF and Autophagy into the Retina of Diabetic Mice.
Int J Mol Sci
; 23(17)2022 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36077579
9.
Durability of Voretigene Neparvovec for Biallelic RPE65-Mediated Inherited Retinal Disease: Phase 3 Results at 3 and 4 Years.
Ophthalmology
; 128(10): 1460-1468, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33798654
10.
Two-year macular volume assessment in multiple sclerosis patients treated with fingolimod.
Neurol Sci
; 42(2): 731-733, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33033898
11.
Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy.
PLoS Genet
; 14(2): e1007210, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29444077
12.
Clinical and Molecular Characterization of Achromatopsia Patients: A Longitudinal Study.
Int J Mol Sci
; 22(4)2021 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33562422
13.
Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush.
Int J Mol Sci
; 22(19)2021 Sep 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-34638692
14.
Bergmeister's papilla in a young patient with type 1 sialidosis: case report.
BMC Ophthalmol
; 20(1): 356, 2020 Aug 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-32867703
15.
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.
Genet Med
; 21(6): 1319-1329, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30377383
16.
Correction: Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.
Genet Med
; 21(4): 1028, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30607024
17.
Efficacy, Safety, and Durability of Voretigene Neparvovec-rzyl in RPE65 Mutation-Associated Inherited Retinal Dystrophy: Results of Phase 1 and 3 Trials.
Ophthalmology
; 126(9): 1273-1285, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31443789
18.
Full-field electroretinography, visual acuity and visual fields in Usher syndrome: a multicentre European study.
Doc Ophthalmol
; 139(2): 151-160, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31267413
19.
Triple Vectors Expand AAV Transfer Capacity in the Retina.
Mol Ther
; 26(2): 524-541, 2018 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29292161
20.
ASSOCIATION BETWEEN GENOTYPE AND DISEASE PROGRESSION IN ITALIAN STARGARDT PATIENTS: A Retrospective Natural History Study.
Retina
; 39(7): 1399-1409, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29642238