Detalhe da pesquisa
1.
Evaluation of safety and early efficacy of AAV gene therapy in mouse models of vanishing white matter disease.
Mol Ther
; 2024 Mar 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38549375
2.
Exome sequencing in the pediatric neuromuscular clinic leads to more frequent diagnosis of both neuromuscular and neurodevelopmental conditions.
Muscle Nerve
; 68(6): 833-840, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37789688
3.
Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy.
Hum Mutat
; 43(4): 511-528, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35165973
4.
Automated immunofluorescence analysis for sensitive and precise dystrophin quantification in muscle biopsies.
Neuropathol Appl Neurobiol
; 48(3): e12785, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34847621
5.
Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial.
JAMA
; 327(15): 1456-1468, 2022 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35381069
6.
Longitudinal MRI brain volume changes over one year in children with mucopolysaccharidosis types IIIA and IIIB.
Mol Genet Metab
; 133(2): 193-200, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33962822
7.
The Genotypic and Phenotypic Spectrum of BICD2 Variants in Spinal Muscular Atrophy.
Ann Neurol
; 87(4): 487-496, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32057122
8.
Evaluating longitudinal therapy effects via the North Star Ambulatory Assessment.
Muscle Nerve
; 64(5): 614-619, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34383312
9.
Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia.
Hum Mutat
; 41(3): 632-640, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31696996
10.
Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2.
Am J Med Genet A
; 182(3): 557-560, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31833174
11.
Association Study of Exon Variants in the NF-κB and TGFß Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy.
Am J Hum Genet
; 99(5): 1163-1171, 2016 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27745838
12.
Update in Duchenne and Becker muscular dystrophy.
Curr Opin Neurol
; 32(5): 722-727, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31343429
13.
Correction: Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect.
Genet Med
; 21(11): 2663, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31267042
14.
Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect.
Genet Med
; 21(12): 2713-2722, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31155615
15.
Evaluation of biomarkers for Sanfilippo syndrome.
Mol Genet Metab
; 128(1-2): 68-74, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31104888
16.
Long-range genomic regulators of THBS1 and LTBP4 modify disease severity in duchenne muscular dystrophy.
Ann Neurol
; 84(2): 234-245, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30014611
17.
Twice-weekly glucocorticosteroids in infants and young boys with Duchenne muscular dystrophy.
Muscle Nerve
; 59(6): 650-657, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30706490
18.
Diagnostic Utility of Whole Exome Sequencing in the Neuromuscular Clinic.
Neuropediatrics
; 50(2): 96-102, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30665247
19.
Letter by Duan et al Regarding Article, "Therapeutic Exon Skipping Through a CRISPR-Guided Cytidine Deaminase Rescues Dystrophic Cardiomyopathy In Vivo".
Circulation
; 145(18): e872-e873, 2022 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35500049
20.
Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial.
Lancet
; 390(10101): 1489-1498, 2017 09 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-28728956