Detalhe da pesquisa
1.
[Research Progress in the Roles of MRE11-RAD50-NBS1 Complex and Human Diseases].
Zhongguo Yi Xue Ke Xue Yuan Xue Bao
; 46(2): 232-241, 2024 Apr.
Artigo
em Zh
| MEDLINE | ID: mdl-38686720
2.
A new phenotype of syndromic retinitis pigmentosa with myopathy is caused by mutations in retinol dehydrogenase 11.
Clin Genet
; 101(4): 448-453, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34988992
3.
Compound heterozygous mutations in the ALDH3A2 gene cause Sjögren-Larsson syndrome: a case report.
Int J Neurosci
; 130(11): 1156-1160, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31944864
4.
Uniparental disomy for chromosome 1 with POMGNT1 splice-site variant causes muscle-eye-brain disease.
Front Genet
; 14: 1170089, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37342771
5.
Deciphering Adult Neural Stem Cells with Single-Cell Sequencing.
Stem Cells Dev
; 32(9-10): 213-224, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36721381
6.
Case report: Muscle involvement in a Chinese patient with TRNT1-related disorder.
Front Pediatr
; 11: 1160107, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37215601
7.
Gastrodin ameliorates cognitive dysfunction in diabetes by inhibiting PAK2 phosphorylation.
Aging (Albany NY)
; 15(16): 8298-8314, 2023 08 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37610708
8.
[Soil Properties, Heavy Metal Accumulation, and Ecological Risk in Vegetable Greenhouses of Different Planting Years].
Huan Jing Ke Xue
; 43(2): 995-1003, 2022 Feb 08.
Artigo
em Zh
| MEDLINE | ID: mdl-35075873
9.
Phenotype and Genotype Study of Chinese POMT2-Related α-Dystroglycanopathy.
Front Genet
; 12: 692479, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34413876
10.
Brain Proteomic Profiling in Intractable Epilepsy Caused by TSC1 Truncating Mutations: A Small Sample Study.
Front Neurol
; 11: 475, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32655475
11.
Paroxysmal spasticity of lower extremities as the initial symptom in two siblings with maple syrup urine disease.
Mol Med Rep
; 19(6): 4872-4880, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30957186
12.
Early intervention with gastrodin reduces striatal neurotoxicity in adult rats with experimentallyinduced diabetes mellitus.
Mol Med Rep
; 19(4): 3114-3122, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30816461
13.
Gastrodin Ameliorates Motor Learning Deficits Through Preserving Cerebellar Long-Term Depression Pathways in Diabetic Rats.
Front Neurosci
; 13: 1239, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31824244
14.
CNKSR2 mutation causes the X-linked epilepsy-aphasia syndrome: A case report and review of literature.
World J Clin Cases
; 6(12): 570-576, 2018 Oct 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-30397616
15.
In Vitro and In Vivo Effects of Norathyriol and Mangiferin on α-Glucosidase.
Biochem Res Int
; 2017: 1206015, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28168055
16.
Gastrodin inhibits expression of inducible NO synthase, cyclooxygenase-2 and proinflammatory cytokines in cultured LPS-stimulated microglia via MAPK pathways.
PLoS One
; 6(7): e21891, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21765922
17.
Albaconol from the mushroom Albatrellus confluens induces contraction and desensitization in guinea pig trachea.
Planta Med
; 69(8): 715-9, 2003 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-14531021