Detalhe da pesquisa
1.
Electrical responses from human retinal cone pathways associate with a common genetic polymorphism implicated in myopia.
Proc Natl Acad Sci U S A
; 119(21): e2119675119, 2022 05 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-35594404
2.
Cone-driven strong flash electroretinograms in healthy adults: Prevalence of negative waveforms.
Doc Ophthalmol
; 148(1): 25-36, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37924416
3.
Neurofilament light levels predict clinical progression and death in multiple system atrophy.
Brain
; 145(12): 4398-4408, 2022 12 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35903017
4.
Relative Genetic and Environmental Contributions to Variations in Human Retinal Electrical Responses Quantified in a Twin Study.
Ophthalmology
; 124(8): 1175-1185, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28434717
5.
Elevated Bile Acid 3ß,5α,6ß-Trihydroxycholanoyl Glycine in a Subset of Adult Ataxias Including Niemann-Pick Type C.
Antioxidants (Basel)
; 13(5)2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38790666
6.
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.
Nat Commun
; 15(1): 2269, 2024 Mar 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38480682
7.
Prevalence of electronegative electroretinograms in a healthy adult cohort.
BMJ Open Ophthalmol
; 6(1): e000751, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34368462
8.
Rare novel CYP2U1 and ZFYVE26 variants identified in two Pakistani families with spastic paraplegia.
J Neurol Sci
; 411: 116669, 2020 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32006740
9.
Systemic redox biomarkers and their relationship to prognostic risk markers in autosomal dominant polycystic kidney disease and IgA nephropathy.
Clin Biochem
; 56: 33-40, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29655960
10.
The heritability of the ring-like distribution of macular pigment assessed in a twin study.
Invest Ophthalmol Vis Sci
; 55(4): 2214-9, 2014 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-24609627