Detalhe da pesquisa
1.
Identification of metabolic pathways and key genes associated with atypical parkinsonism using a systems biology approach.
Metab Brain Dis
; 39(4): 577-587, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38305999
2.
Copy number variations in SPAST and ATL1 are rare among Brazilians.
Clin Genet
; 103(5): 580-584, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36537231
3.
Cytokine profiling in patients with hepatic glycogen storage disease: Are there clues for unsolved aspects?
Cytokine
; 162: 156088, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36462220
4.
Genome Editing Tools for Lysosomal Storage Disorders.
Adv Exp Med Biol
; 1429: 127-155, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37486520
5.
Diagnostic yield of multi-gene panel for muscular dystrophies and other hereditary myopathies.
Neurol Sci
; 43(7): 4473-4481, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35175440
6.
Risk factors associated with the development of oral mucositis in pediatric oncology patients: Systematic review and meta-analysis.
Oral Dis
; 28(4): 1068-1084, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33774891
7.
Elevated holo-transcobalamin in Gaucher disease type II: A case report.
Am J Med Genet A
; 185(8): 2471-2476, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34031990
8.
Assessment of cellular cobalamin metabolism in Gaucher disease.
BMC Med Genet
; 21(1): 12, 2020 01 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-31931749
9.
Metabarcoding reveals that a non-nutritive sweetener and sucrose yield similar gut microbiota patterns in Wistar rats.
Genet Mol Biol
; 43(1): e20190028, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32191789
10.
Humoral immune response in adult Brazilian patients with Mucolipidosis III gamma.
Genet Mol Biol
; 42(3): 571-573, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31188938
11.
Determining the pathogenicity of CFTR missense variants: Multiple comparisons of in silico predictors and variant annotation databases.
Genet Mol Biol
; 42(3): 560-570, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31808782
12.
Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders.
Genet Mol Biol
; 42(1 suppl 1): 197-206, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30985853
13.
Phenotype-oriented NGS panels for mucopolysaccharidoses: Validation and potential use in the diagnostic flowchart.
Genet Mol Biol
; 42(1 suppl 1): 207-214, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30985855
14.
Use of a multiplex ligation-dependent probe amplification method for the detection of deletions/duplications in the GBA1 gene in Gaucher disease patients.
Blood Cells Mol Dis
; 68: 17-20, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27825739
15.
Salivary microbiome and oral mucositis in HSCT recipients: A pilot study.
Oral Dis
; 2023 Aug 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37641195
16.
Tyrosine receptor kinase B gene variants (NTRK2 variants) are associated with depressive disorders in temporal lobe epilepsy.
Epilepsy Behav
; 71(Pt A): 65-72, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28550723
17.
Glycosylation is crucial for a proper catalytic site organization in human glucocerebrosidase.
Glycoconj J
; 33(2): 237-44, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27023912
18.
The prognostic value of the serum ferritin in a southern Brazilian cohort of patients with Gaucher disease.
Genet Mol Biol
; 39(1): 30-4, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-27007895
19.
Glucocerebrosidase is shaking up the synucleinopathies.
Brain
; 137(Pt 5): 1304-22, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24531622
20.
Identification of miRNAs that modulate glucocerebrosidase activity in Gaucher disease cells.
RNA Biol
; 11(10): 1291-300, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25584808