Detalhe da pesquisa
1.
Lysosomal glycogen accumulation in Pompe disease results in disturbed cytoplasmic glycogen metabolism.
J Inherit Metab Dis
; 46(1): 101-115, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36111639
2.
Effect of Anti-Iduronate 2-Sulfatase Antibodies in Patients with Mucopolysaccharidosis Type II Treated with Enzyme Replacement Therapy.
J Pediatr
; 248: 100-107.e3, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35568060
3.
Outcome of Later-Onset Pompe Disease Identified Through Newborn Screening.
J Pediatr
; 244: 139-147.e2, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34995642
4.
Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.
Hum Mutat
; 42(2): 119-134, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33560568
5.
Broad variation in phenotypes for common GAA genotypes in Pompe disease.
Hum Mutat
; 42(11): 1461-1472, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34405923
6.
Opportunities and challenges for antisense oligonucleotide therapies.
J Inherit Metab Dis
; 44(1): 72-87, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32391605
7.
Effects of higher and more frequent dosing of alglucosidase alfa and immunomodulation on long-term clinical outcome of classic infantile Pompe patients.
J Inherit Metab Dis
; 43(6): 1243-1253, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32506446
8.
ATAC-king the complexity of SAGA during evolution.
Genes Dev
; 26(6): 527-41, 2012 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22426530
9.
Extension of the Pompe mutation database by linking disease-associated variants to clinical severity.
Hum Mutat
; 40(11): 1954-1967, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31254424
10.
A central role for TFIID in the pluripotent transcription circuitry.
Nature
; 495(7442): 516-9, 2013 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-23503660
11.
High Sustained Antibody Titers in Patients with Classic Infantile Pompe Disease Following Immunomodulation at Start of Enzyme Replacement Therapy.
J Pediatr
; 195: 236-243.e3, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29428273
12.
Pompe disease in adulthood: effects of antibody formation on enzyme replacement therapy.
Genet Med
; 19(1): 90-97, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27362911
13.
Genotype-phenotype relationship in mucopolysaccharidosis II: predictive power of IDS variants for the neuronopathic phenotype.
Dev Med Child Neurol
; 59(10): 1063-1070, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28543354
14.
Absolute quantification of the total and antidrug antibody-bound concentrations of recombinant human α-glucosidase in human plasma using protein G extraction and LC-MS/MS.
Anal Chem
; 87(8): 4394-401, 2015 Apr 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-25802928
15.
Tight cooperation between Mot1p and NC2ß in regulating genome-wide transcription, repression of transcription following heat shock induction and genetic interaction with SAGA.
Nucleic Acids Res
; 40(3): 996-1008, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21976730
16.
Interconversion between active and inactive TATA-binding protein transcription complexes in the mouse genome.
Nucleic Acids Res
; 40(4): 1446-59, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22013162
17.
A knock down strategy for rapid, generic, and versatile modelling of muscular dystrophies in 3D-tissue-engineered-skeletal muscle.
Skelet Muscle
; 14(1): 3, 2024 Feb 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38389096
18.
Lentiviral gene therapy with IGF2-tagged GAA normalizes the skeletal muscle proteome in murine Pompe disease.
J Proteomics
; 291: 105037, 2024 01 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38288553
19.
Lentiviral Gene Therapy for Mucopolysaccharidosis II with Tagged Iduronate 2-Sulfatase Prevents Life-Threatening Pathology in Peripheral Tissues But Fails to Correct Cartilage.
Hum Gene Ther
; 35(7-8): 256-268, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38085235
20.
Highly contractile 3D tissue engineered skeletal muscles from human iPSCs reveal similarities with primary myoblast-derived tissues.
Stem Cell Reports
; 18(10): 1954-1971, 2023 10 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37774701