Detalhe da pesquisa
1.
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings.
Am J Hum Genet
; 108(11): 2130-2144, 2021 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34653363
2.
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
3.
Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview.
Mol Genet Metab
; 129(2): 47-58, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31711734
4.
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
5.
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
6.
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
7.
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
8.
Novel NPC1 mutations with different segregation in two related Greek patients with Niemann-Pick type C disease: molecular study in the extended pedigree and clinical correlations.
BMC Med Genet
; 18(1): 51, 2017 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28472934
9.
Correction: Stereodivergent synthesis of right- and left-handed iminoxylitol heterodimers and monomers. Study of their impact on ß-glucocerebrosidase activity.
Org Biomol Chem
; 15(37): 7977, 2017 09 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-28905961
10.
Stereodivergent synthesis of right- and left-handed iminoxylitol heterodimers and monomers. Study of their impact on ß-glucocerebrosidase activity.
Org Biomol Chem
; 15(17): 3681-3705, 2017 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28401966
11.
Case report: Aqueous and Vitreous amino-acid concentrations in a patient with maple syrup urine disease operated on rhegmatogenous retinal detachment.
BMC Ophthalmol
; 16(1): 170, 2016 Oct 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27716111
12.
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
13.
"Old Roads-New Connections" SSIEM 2018 Annual Symposium in Athens.
J Inherit Metab Dis
; 43(1): 1, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31958349
14.
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
15.
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
16.
Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants.
Hum Mutat
; 33(8): 1161-5, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22644586
17.
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
18.
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
19.
Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece.
Am J Med Genet A
; 155A(1): 58-68, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21204211
20.
Correction: Loss of ß-Glucocerebrosidase Activity Does Not Affect Alpha-Synuclein Levels or Lysosomal Function in Neuronal Cells.
PLoS One
; 16(6): e0252975, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34086800