Detalhe da pesquisa
1.
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance.
Cell
; 140(1): 74-87, 2010 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-20074521
2.
Congenital isolated unilateral third nerve palsy in children: the diagnostic contribution of high-resolution MR imaging.
Neuroradiology
; 65(4): 865-870, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36580093
3.
Paralog Studies Augment Gene Discovery: DDX and DHX Genes.
Am J Hum Genet
; 105(2): 302-316, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31256877
4.
Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorder.
Am J Med Genet A
; 188(10): 3032-3040, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35876338
5.
A novel p.(Glu111Val) missense mutation in GUCA1A associated with cone-rod dystrophy leads to impaired calcium sensing and perturbed second messenger homeostasis in photoreceptors.
Hum Mol Genet
; 27(24): 4204-4217, 2018 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30184081
6.
Expanding the Clinical and Genetic Spectrum of RAB28-Related Cone-Rod Dystrophy: Pathogenicity of Novel Variants in Italian Families.
Int J Mol Sci
; 22(1)2020 Dec 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-33396523
7.
Pathogenicity of new BEST1 variants identified in Italian patients with best vitelliform macular dystrophy assessed by computational structural biology.
J Transl Med
; 17(1): 330, 2019 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31570112
8.
Multimodal Imaging in Autosomal Dominant Cone-Rod Dystrophy Caused by Novel CRX Variant.
Ophthalmic Res
; 60(3): 169-175, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30078014
9.
Developmental visual deprivation: long term effects on human cone driven retinal function.
Graefes Arch Clin Exp Ophthalmol
; 255(12): 2481-2486, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28831547
10.
Pediatric keratoconus and iontophoretic corneal crosslinking: refractive and topographic evidence in patients underwent general and topical anesthesia, 18 months of follow-up.
Int Ophthalmol
; 36(4): 585-90, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26704375
11.
Refractive surgery for accommodative esotropia: 5-year follow-up.
J Refract Surg
; 30(2): 116-20, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24763477
12.
Short-term effects of vision trainer rehabilitation in patients affected by anisometropic amblyopia: electrofunctional evaluation.
Doc Ophthalmol
; 129(3): 177-89, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25294024
13.
Essential infantile esotropia: postoperative motor outcomes and inferential analysis of strabismus surgery.
BMC Ophthalmol
; 14: 35, 2014 Mar 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-24666468
14.
Long-term outcome of primary versus secondary intraocular lens implantation after simultaneous removal of bilateral congenital cataract.
Graefes Arch Clin Exp Ophthalmol
; 251(1): 309-14, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22411128
15.
Adalimumab for juvenile idiopathic arthritis-associated uveitis.
Graefes Arch Clin Exp Ophthalmol
; 251(6): 1601-6, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23446556
16.
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).
Nat Genet
; 35(4): 318-21, 2003 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-14595441
17.
Morphovascular changes after anti-VEGF intravitreal injection for a choroidal neovascularization secondary to COVID-19 infection in a pediatric patient.
Photodiagnosis Photodyn Ther
; 42: 103577, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37084932
18.
Long-term effects of early/late-onset visual deprivation on macular and retinal nerve fibers layer structure: A pilot study.
PLoS One
; 18(3): e0283423, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36952524
19.
Bilateral methicillin-resistant Staphylococcus aureus keratitis following hyperopic photorefractive surgery.
Int Ophthalmol
; 32(1): 47-9, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22215418
20.
A case of retinal vascular involvement in a 6-year-old patient with Covid-19.
Eur J Ophthalmol
; 32(4): NP1-NP5, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34176314