Detalhe da pesquisa
1.
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
2.
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
3.
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
4.
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
5.
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
6.
Newborn screening for Pompe disease in Italy: Long-term results and future challenges.
Mol Genet Metab Rep
; 33: 100929, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36310651
7.
A generic assay for the identification of splicing variants that induce nonsense-mediated decay in Pompe disease.
Eur J Hum Genet
; 29(3): 422-433, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33168984
8.
Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis.
Mol Ther Methods Clin Dev
; 17: 337-348, 2020 Jun 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32071926
9.
A genetic modifier of symptom onset in Pompe disease.
EBioMedicine
; 43: 553-561, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-30922962
10.
Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays.
Eur J Hum Genet
; 27(6): 919-927, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30737479
11.
Satellite cells maintain regenerative capacity but fail to repair disease-associated muscle damage in mice with Pompe disease.
Acta Neuropathol Commun
; 6(1): 119, 2018 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30404653
12.
The ACE I/D polymorphism does not explain heterogeneity of natural course and response to enzyme replacement therapy in Pompe disease.
PLoS One
; 13(12): e0208854, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30532252
13.
Large-Scale Expansion of Human iPSC-Derived Skeletal Muscle Cells for Disease Modeling and Cell-Based Therapeutic Strategies.
Stem Cell Reports
; 10(6): 1975-1990, 2018 06 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29731431
14.
GAA Deficiency in Pompe Disease Is Alleviated by Exon Inclusion in iPSC-Derived Skeletal Muscle Cells.
Mol Ther Nucleic Acids
; 7: 101-115, 2017 Jun 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-28624186