Detalhe da pesquisa
1.
One episode of low intensity aerobic exercise prior to systemic AAV9 administration augments transgene delivery to the heart and skeletal muscle.
J Transl Med
; 21(1): 748, 2023 10 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-37875924
2.
Peripheral neuropathies associated with DNA repair disorders.
Muscle Nerve
; 67(2): 101-110, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36190439
3.
Infiltrative and drug-resistant slow-cycling cells support metabolic heterogeneity in glioblastoma.
EMBO J
; 37(23)2018 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30322894
4.
The Notch signaling pathway in skeletal muscle health and disease.
Muscle Nerve
; 66(5): 530-544, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35968817
5.
Selective serotonin reuptake inhibitors ameliorate MEGF10 myopathy.
Hum Mol Genet
; 28(14): 2365-2377, 2019 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31267131
6.
Myocardial glucose and fatty acid metabolism is altered and associated with lower cardiac function in young adults with Barth syndrome.
J Nucl Cardiol
; 28(4): 1649-1659, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31705425
7.
Consequences of MEGF10 deficiency on myoblast function and Notch1 interactions.
Hum Mol Genet
; 26(15): 2984-3000, 2017 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28498977
8.
Blunted fat oxidation upon submaximal exercise is partially compensated by enhanced glucose metabolism in children, adolescents, and young adults with Barth syndrome.
J Inherit Metab Dis
; 42(3): 480-493, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30924938
9.
Increased mtDNA Abundance and Improved Function in Human Barth Syndrome Patient Fibroblasts Following AAV-TAZ Gene Delivery.
Int J Mol Sci
; 20(14)2019 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31336787
10.
Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.
Physiol Genomics
; 50(11): 929-939, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30345904
11.
Longitudinal Patterns of Thalidomide Neuropathy in Children and Adolescents.
J Pediatr
; 178: 227-232, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27567409
12.
Silencing of drpr leads to muscle and brain degeneration in adult Drosophila.
Am J Pathol
; 184(10): 2653-61, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25111228
13.
Cognitive Decline and Other Late-Stage Neurologic Complications in Cockayne Syndrome.
Neurol Clin Pract
; 14(4): e200309, 2024 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-38808024
14.
Pompe disease gene therapy.
Hum Mol Genet
; 20(R1): R61-8, 2011 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21518733
15.
Transplantation of autologously derived mitochondria protects the heart from ischemia-reperfusion injury.
Am J Physiol Heart Circ Physiol
; 304(7): H966-82, 2013 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23355340
16.
Elevated liver glycogenolysis mediates higher blood glucose during acute exercise in Barth syndrome.
PLoS One
; 18(8): e0290832, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37651450
17.
The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome.
Pediatr Neurol
; 141: 79-86, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36791574
18.
AAV vectors for cardiac gene transfer: experimental tools and clinical opportunities.
Mol Ther
; 19(9): 1582-90, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21792180
19.
Matrix produced by diseased cardiac fibroblasts affects early myotube formation and function.
Acta Biomater
; 152: 100-112, 2022 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36055608
20.
Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy.
Ann Clin Transl Neurol
; 9(8): 1302-1309, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35734998