Detalhe da pesquisa
1.
Synergistic use of glycomics and single-molecule molecular inversion probes for identification of congenital disorders of glycosylation type-1.
J Inherit Metab Dis
; 45(4): 769-781, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35279850
2.
Circulating Brain-enriched MicroRNAs for detection and discrimination of idiopathic and genetic Parkinson's disease.
Mov Disord
; 35(3): 457-467, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31799764
3.
TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation.
Am J Hum Genet
; 98(2): 322-30, 2016 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26833330
4.
Toward understanding tissue-specific symptoms in dolichol-phosphate-mannose synthesis disorders; insight from DPM3-CDG.
J Inherit Metab Dis
; 42(5): 984-992, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30931530
5.
Impact of APOE Genotype on Cognition in Idiopathic and Genetic Forms of Parkinson's Disease.
Mov Disord
; 38(5): 907-909, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37148559
6.
Smart Health Caring Home: A Systematic Review of Smart Home Care for Elders and Chronic Disease Patients.
Adv Exp Med Biol
; 989: 255-264, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28971433
7.
Lysosomal alterations in peripheral blood mononuclear cells of Parkinson's disease patients.
Mov Disord
; 30(13): 1830-4, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26769460
8.
Gaucher disease: plasmalogen levels in relation to primary lipid abnormalities and oxidative stress.
Blood Cells Mol Dis
; 53(1-2): 30-3, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24521822
9.
a-Synuclein and lipids in erythrocytes of Gaucher disease carriers and patients before and after enzyme replacement therapy.
PLoS One
; 18(2): e0277602, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36735655
10.
Evidence of an association between the scavenger receptor class B member 2 gene and Parkinson's disease.
Mov Disord
; 27(3): 400-5, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22223122
11.
ß-Glucocerebrosidase gene mutations in two cohorts of Greek patients with sporadic Parkinson's disease.
Mol Genet Metab
; 104(1-2): 149-52, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21745757
12.
Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece.
Mol Genet Metab Rep
; 24: 100614, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32547927
13.
A novel mutation deep within intron 7 of the GBA gene causes Gaucher disease.
Mol Genet Genomic Med
; 8(3): e1090, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31943857
14.
Haplotype analysis suggests a single Balkan origin for the Gaucher disease [D409H;H255Q] double mutant allele.
Hum Mutat
; 29(6): E58-67, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18429048
15.
Plasmalogen levels in Gaucher disease.
Blood Cells Mol Dis
; 41(2): 196-9, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18501647
16.
Phenotypic Characteristics in GBA-Associated Parkinson's Disease: A Study in a Greek Population.
J Parkinsons Dis
; 8(1): 101-105, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29480223
17.
Alpha-synuclein dimerization in erythrocytes of patients with genetic and non-genetic forms of Parkinson's Disease.
Neurosci Lett
; 672: 145-149, 2018 04 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-29129675
18.
Linoleic and arachidonic acid in perinatal asphyxia and prematurity.
J Matern Fetal Neonatal Med
; 20(8): 623-6, 2007 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17674280
19.
Homozygosity for the double D409H+H255Q allele in type II Gaucher disease.
J Inherit Metab Dis
; 29(4): 591, 2006 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-16830265
20.
α-Synuclein dimerization in erythrocytes of Gaucher disease patients: correlation with lipid abnormalities and oxidative stress.
Neurosci Lett
; 613: 1-5, 2016 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-26708635