Detalhe da pesquisa
1.
ATYPICAL FOVEAL AND PARAFOVEAL ABNORMALITIES IN SICKLE CELL DISEASE.
Retina
; 44(3): 506-514, 2024 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37948742
2.
A plasma metabolomic signature of Leber hereditary optic neuropathy showing taurine and nicotinamide deficiencies.
Hum Mol Genet
; 30(1): 21-29, 2021 03 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33437983
3.
Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.
Am J Hum Genet
; 98(5): 971-980, 2016 May 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27108797
4.
Cardiac Disorders in Patients With Leber Hereditary Optic Neuropathy.
J Neuroophthalmol
; 38(4): 466-469, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29384800
5.
International Consensus Statement on the Clinical and Therapeutic Management of Leber Hereditary Optic Neuropathy.
J Neuroophthalmol
; 37(4): 371-381, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28991104
6.
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
Am J Hum Genet
; 90(5): 864-70, 2012 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-22503633
7.
The Optic Nerve at Stake: Update on Environmental Factors Modulating Expression of Leber's Hereditary Optic Neuropathy.
Biomedicines
; 12(3)2024 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38540197
8.
Relationship between paramacular thinning, cerebral vasculopathy, and hematological risk factors in sickle cell disease.
Front Med (Lausanne)
; 10: 1226210, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37700770
9.
[Decrease in visual acuity: retinal or optic nerve?]. / Baisse de l'acuité visuelle: rétine ou nerf optique?
Rev Prat
; 62(8): 1047-53, 2012 Oct.
Artigo
em Francês
| MEDLINE | ID: mdl-23227593
10.
Case Report: Abnormalities of sperm motility and morphology in a patient with Leber hereditary optic neuropathy: Improvement after idebenone therapy.
Front Neurol
; 13: 946559, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36686502
11.
MCAT Mutations Cause Nuclear LHON-like Optic Neuropathy.
Genes (Basel)
; 12(4)2021 04 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33918393
12.
Carotid artery dissection revealed by an oculosympathetic spasm.
J Emerg Med
; 39(5): 586-8, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-18455904
13.
[Preservation of automatic ocular saccades in healthy elderly: alteration in patients with dementia with Lewy body]. / Longévité et robustesse de la saccade oculaire automatique chez le sujet âgé sain : atteinte dans des cas de démence à corps de Lewy.
Psychol Neuropsychiatr Vieil
; 8(4): 295-306, 2010 Dec.
Artigo
em Francês
| MEDLINE | ID: mdl-21147667
14.
Letter to the editor on: prophylactic nicotinamide treatment protects from rotenone-induced neurodegeneration by increasing mitochondrial content and volume.
Acta Neuropathol Commun
; 12(1): 53, 2024 Apr 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38581047
15.
How the brain obeys Hering's law: a TMS study of the posterior parietal cortex.
Invest Ophthalmol Vis Sci
; 49(1): 230-7, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18172097
16.
Cyclosporine A does not prevent second-eye involvement in Leber's hereditary optic neuropathy.
Orphanet J Rare Dis
; 13(1): 33, 2018 02 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-29454364
17.
Nonpenetrating external trabeculectomy for congenital glaucoma: a retrospective study.
Ophthalmology
; 114(11): 1994-9, 2007 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17980742
18.
Identification of four new PITX2 gene mutations in patients with Axenfeld-Rieger syndrome.
Mol Vis
; 12: 1448-60, 2006 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-17167399
19.
[Importance of new examinations in the management of visual impairment]. / Importance des nouveaux examens dans la prise en charge des altérations de la fonction visuelle.
Rev Prat
; 61(9): 1274-5, 2011 Nov.
Artigo
em Francês
| MEDLINE | ID: mdl-22308819
20.
Relevance of Identifying JAG1 Mutations in Patients With Isolated Posterior Embryotoxon.
J Glaucoma
; 25(12): 923-925, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27820424