Detalhe da pesquisa
1.
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.
Am J Hum Genet
; 103(3): 431-439, 2018 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30100084
2.
Clinical and genetic characterization of PYROXD1-related myopathy patients from Turkey.
Am J Med Genet A
; 185(6): 1678-1690, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33694278
3.
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.
Am J Hum Genet
; 108(12): 2385, 2021 Dec 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34861176
4.
Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization.
Brain
; 140(11): 2838-2850, 2017 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29088354
5.
Tenotomy immobilization as a model to investigate skeletal muscle fibrosis (with emphasis on Secreted frizzled-related protein 2).
Physiol Genomics
; 48(6): 397-408, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27113532
6.
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.
Am J Hum Genet
; 103(5): 826, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30388405
7.
LC-MS/HRMS Analysis, Anti-Cancer, Anti-Enzymatic and Anti-Oxidant Effects of Boerhavia diffusa Extracts: A Potential Raw Material for Functional Applications.
Antioxidants (Basel)
; 10(12)2021 Dec 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-34943106
8.
Shorter Phosphorodiamidate Morpholino Splice-Switching Oligonucleotides May Increase Exon-Skipping Efficacy in DMD.
Mol Ther Nucleic Acids
; 13: 534-542, 2018 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30396145
9.
Periostin is temporally expressed as an extracellular matrix component in skeletal muscle regeneration and differentiation.
Gene
; 553(2): 130-9, 2014 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25303869
10.
The vasorelaxant effect of hydrogen sulfide is enhanced in streptozotocin-induced diabetic rats.
Naunyn Schmiedebergs Arch Pharmacol
; 383(5): 509-17, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21394483