Detalhe da pesquisa
1.
Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders.
Am J Hum Genet
; 110(2): 251-272, 2023 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36669495
2.
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
3.
High-yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing.
Hum Mutat
; 43(12): 2130-2140, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36251260
4.
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
5.
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
6.
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
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.
Modelling the neuropathology of lysosomal storage disorders through disease-specific human induced pluripotent stem cells.
Exp Cell Res
; 380(2): 216-233, 2019 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31039347
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.
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
11.
Structural Basis of the Interaction between Tuberous Sclerosis Complex 1 (TSC1) and Tre2-Bub2-Cdc16 Domain Family Member 7 (TBC1D7).
J Biol Chem
; 291(16): 8591-601, 2016 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26893383
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.
Severe bleeding complications and multiple kidney transplants in a patient with tuberous sclerosis complex caused by a novel TSC2 missense variant.
Croat Med J
; 58(6): 416-423, 2017 Dec 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-29308833
15.
Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis.
Hum Mutat
; 37(4): 364-70, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26703369
16.
Preliminary functional assessment and classification of DEPDC5 variants associated with focal epilepsy.
Hum Mutat
; 36(2): 200-9, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25366275
17.
Identification and characterization of aberrant GAA pre-mRNA splicing in pompe disease using a generic approach.
Hum Mutat
; 36(1): 57-68, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25243733
18.
Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia.
Mol Genet Metab
; 114(3): 467-73, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25523067
19.
Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations.
BMC Med Genet
; 16: 10, 2015 Feb 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-25927202
20.
Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease.
J Inherit Metab Dis
; 38(2): 305-14, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24715333