Detalles de la búsqueda
1.
20 potentially new compounds and 11 new bioactive constituents found in Smilacis Glabrae Rhizoma utilizing HPLC-DAD-ESI-IT-TOF-MSn.
Phytochem Anal
; 2024 Apr 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-38639052
2.
Novel stop-gain RNF170 variation detected in a Chinese family with adolescent-onset hereditary spastic paraplegia.
Clin Genet
; 103(1): 87-92, 2023 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36046950
3.
Purification and Structure Characterization of the Crude Polysaccharide from the Fruiting Bodies of Butyriboletus pseudospeciosus and Its Modulation Effects on Gut Microbiota.
Molecules
; 28(6)2023 Mar 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-36985654
4.
Features Differ Between Paroxysmal Kinesigenic Dyskinesia Patients with PRRT2 and TMEM151A Variants.
Mov Disord
; 37(3): 608-613, 2022 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-35083789
5.
Bi-allelic loss of function variants in COX20 gene cause autosomal recessive sensory neuronopathy.
Brain
; 144(8): 2457-2470, 2021 09 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-33751098
6.
CHIP control degradation of mutant ETF:QO through ubiquitylation in late-onset multiple acyl-CoA dehydrogenase deficiency.
J Inherit Metab Dis
; 44(2): 450-468, 2021 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-33438237
7.
Genetic spectrum of MCM3AP and its relationship with phenotype of Charcot-Marie-Tooth disease.
J Peripher Nerv Syst
; 25(2): 107-111, 2020 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-32319184
8.
Exploring the In Vivo Existence Forms (23 Original Constituents and 147 Metabolites) of Astragali Radix Total Flavonoids and Their Distributions in Rats Using HPLC-DAD-ESI-IT-TOF-MSn.
Molecules
; 25(23)2020 Nov 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-33256251
9.
Genetic spectrum and clinical profiles in a southeast Chinese cohort of Charcot-Marie-Tooth disease.
Clin Genet
; 96(5): 439-448, 2019 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-31372974
10.
Clinical and genetic characterization of a cohort of Chinese patients with hereditary spastic paraplegia.
Clin Genet
; 95(5): 637-639, 2019 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-30780198
11.
Evaluation of Multislice Spiral Computed Tomography Perfusion Imaging for the Efficacy of Preoperative Concurrent Chemoradiotherapy in Middle-aged and Elderly Patients with Locally Advanced Gastric Cancer.
Med Sci Monit
; 24: 235-245, 2018 Jan 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-29326419
12.
Identification of novel senataxin mutations in Chinese patients with autosomal recessive cerebellar ataxias by targeted next-generation sequencing.
BMC Neurol
; 16(1): 179, 2016 Sep 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-27644330
13.
Detection of 191 Taxifolin Metabolites and Their Distribution in Rats Using HPLC-ESI-IT-TOF-MS(n).
Molecules
; 21(9)2016 Sep 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-27649117
14.
Green synthesis of silver nanoparticles using Phlebopus portentosus polysaccharide and their antioxidant, antidiabetic, anticancer, and antimicrobial activities.
Int J Biol Macromol
; 254(Pt 1): 127579, 2024 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-37918606
15.
Biallelic variants in the COQ4 gene caused hereditary spastic paraplegia predominant phenotype.
CNS Neurosci Ther
; 30(4): e14529, 2024 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-38013626
16.
Both gain- and loss-of-function variants of KCNA1 are associated with paroxysmal kinesigenic dyskinesia.
J Genet Genomics
; 2024 Apr 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-38570113
17.
Evaluation of hemostatic, anti-inflammatory, wound healing, skin irritation and allergy, and antimicrobial properties of active fraction from the ethanol extract of Chromolaena odorata (L.) R.M. King & H. Rob.
J Ethnopharmacol
; 331: 118330, 2024 Sep 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-38740109
18.
Paroxysmal Kinesigenic Dyskinesia: Genetics and Pathophysiological Mechanisms.
Neurosci Bull
; 2023 Dec 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-38091244
19.
A multi-locus linear mixed model methodology for detecting small-effect QTLs for quantitative traits in MAGIC, NAM, and ROAM populations.
Comput Struct Biotechnol J
; 21: 2241-2252, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37035553
20.
Pathogenicity classification of SOD1 variants of uncertain significance by in vitro aggregation propensity.
Neurobiol Aging
; 123: 182-190, 2023 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-36376198