Detalhe da pesquisa
1.
Development and validation of a new genotype-phenotype correlation for Niemann-Pick disease type C1.
J Inherit Metab Dis
; 47(2): 317-326, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38131230
2.
Antigen-encapsulating host extracellular vesicles derived from Salmonella-infected cells stimulate pathogen-specific Th1-type responses in vivo.
PLoS Pathog
; 17(5): e1009465, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33956909
3.
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
Am J Hum Genet
; 104(6): 1210-1222, 2019 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31079897
4.
Investigation of GALNS variants and genotype-phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA.
J Inherit Metab Dis
; 45(3): 593-604, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35212421
5.
Clinical, biochemical, and genotype-phenotype correlations of 118 patients with Niemann-Pick disease Types A/B.
Hum Mutat
; 42(5): 614-625, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33675270
6.
Ambroxol improves skeletal and hematological manifestations on a child with Gaucher disease.
J Hum Genet
; 65(3): 345-349, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31822786
7.
Microphthalmia and linear skin defects syndrome: Precise diagnosis guides prognosis.
Pediatr Dermatol
; 37(1): 217-218, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31373408
8.
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.
Am J Hum Genet
; 98(2): 347-57, 2016 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26805781
9.
KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.
Ann Neurol
; 84(5): 766-780, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30295347
10.
Cell-based high-throughput screening identifies galactocerebrosidase enhancers as potential small-molecule therapies for Krabbe's disease.
J Neurosci Res
; 94(11): 1231-45, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27638606
11.
Characterization and application of a disease-cell model for a neurodegenerative lysosomal disease.
Mol Genet Metab
; 111(2): 172-83, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24094551
12.
Newborn Screening for 6 Lysosomal Storage Disorders in China.
JAMA Netw Open
; 7(5): e2410754, 2024 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38739391
13.
A high-throughput screening assay using Krabbe disease patient cells.
Anal Biochem
; 434(1): 15-25, 2013 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23138179
14.
Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency.
J Magn Reson Imaging
; 37(4): 974-80, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23055421
15.
Integrating whole-genome sequencing and transcriptomic findings in the diagnosis and management of Coffin-Siris syndrome.
Brain Dev
; 45(9): 495-504, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37302973
16.
USP8 inhibition regulates autophagy flux and controls Salmonella infection.
Front Cell Infect Microbiol
; 13: 1070271, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37026055
17.
Use of Ambroxol as Therapy for Gaucher Disease.
JAMA Netw Open
; 6(6): e2319364, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37342037
18.
Fluorescent Labeling of Small Extracellular Vesicles (EVs) Isolated from Conditioned Media.
Bio Protoc
; 12(12)2022 Jun 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-35864901
19.
Potential Disease-Modifying Effects of Lithium Carbonate in Niemann-Pick Disease, Type C1.
Front Pharmacol
; 12: 667361, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34177581
20.
CNS-Targeting Therapies for Lysosomal Storage Diseases: Current Advances and Challenges.
Front Mol Biosci
; 7: 559804, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33304924