Detalhe da pesquisa
1.
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Am J Hum Genet
; 111(1): 200-210, 2024 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38118446
2.
Whole exome sequencing in Serbian patients with hereditary spastic paraplegia.
Neurogenetics
; 2024 Mar 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38499745
3.
LONG-TERM CLINICAL OUTCOMES AND GENOTYPE-PHENOTYPE CORRELATION IN FAMILIAL EXUDATIVE VITREORETINOPATHY IN A TERTIARY REFERRAL CENTER.
Retina
; 43(11): 1945-1950, 2023 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37339455
4.
Case report: novel PCDH15 variant causes usher syndrome type 1F with congenital hearing loss and syndromic retinitis pigmentosa.
BMC Ophthalmol
; 22(1): 441, 2022 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36384460
5.
α-Synuclein A53T Binds to Transcriptional Adapter 2-Alpha and Blocks Histone H3 Acetylation.
Int J Mol Sci
; 22(10)2021 May 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-34065515
6.
PARIS reprograms glucose metabolism by HIF-1α induction in dopaminergic neurodegeneration.
Biochem Biophys Res Commun
; 495(4): 2498-2504, 2018 01 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-29287724
7.
Identification of transketolase as a target of PARIS in substantia nigra.
Biochem Biophys Res Commun
; 493(2): 1050-1056, 2017 11 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-28939041
8.
Cross-Sectional Analysis of Exome Sequencing Diagnosis in Patients With Neurologic Phenotypes Facing Barriers to Clinical Testing.
Neurol Genet
; 10(3): e200133, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38617022
9.
Maternal Mosaicism in SSBP1 Causing Optic Atrophy with Retinal Degeneration: Implications for Genetic Counseling.
Res Sq
; 2023 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36993412
10.
Maternal mosaicism in SSBP1 causing optic atrophy with retinal degeneration: implications for genetic counseling.
Orphanet J Rare Dis
; 18(1): 131, 2023 05 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-37259171
11.
Whole exome sequencing identified five novel variants in CNTN2, CARS2, ARSA, and CLCN4 leading to epilepsy in consanguineous families.
Front Genet
; 14: 1185065, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37359369
12.
Farnesol prevents aging-related muscle weakness in mice through enhanced farnesylation of Parkin-interacting substrate.
Sci Transl Med
; 15(711): eabh3489, 2023 08 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-37647389
13.
Loss of zinc-finger protein 212 leads to Purkinje cell death and locomotive abnormalities with phospholipase D3 downregulation.
Sci Rep
; 11(1): 22745, 2021 11 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-34815492
14.
PARIS farnesylation prevents neurodegeneration in models of Parkinson's disease.
Sci Transl Med
; 13(604)2021 07 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-34321320
15.
Activation of the ATF2/CREB-PGC-1α pathway by metformin leads to dopaminergic neuroprotection.
Oncotarget
; 8(30): 48603-48618, 2017 Jul 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-28611284
16.
Diaminodiphenyl sulfone-induced parkin ameliorates age-dependent dopaminergic neuronal loss.
Neurobiol Aging
; 41: 1-10, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-27103513
17.
The biguanide metformin alters phosphoproteomic profiling in mouse brain.
Neurosci Lett
; 579: 145-50, 2014 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-25067825