Detalhe da pesquisa
1.
Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases.
J Med Genet
; 61(1): 8-17, 2023 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37316190
2.
Screening and follow-up results of fatty acid oxidative metabolism disorders in 608 818 newborns in Jining, Shandong province.
Zhejiang Da Xue Xue Bao Yi Xue Ban
; 50(4): 472-480, 2021 Aug 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-34704412
3.
Combining newborn metabolic and genetic screening for neonatal intrahepatic cholestasis caused by citrin deficiency.
J Inherit Metab Dis
; 43(3): 467-477, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31845334
4.
The intellectual disability gene PQBP1 rescues Alzheimer's disease pathology.
Mol Psychiatry
; 23(10): 2090-2110, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30283027
5.
RpA1 ameliorates symptoms of mutant ataxin-1 knock-in mice and enhances DNA damage repair.
Hum Mol Genet
; 25(20): 4432-4447, 2016 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28173122
6.
Targeting TEAD/YAP-transcription-dependent necrosis, TRIAD, ameliorates Huntington's disease pathology.
Hum Mol Genet
; 25(21): 4749-4770, 2016 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28171658
7.
Diagnosis and therapeutic monitoring of inborn errors of metabolism in 100,077 newborns from Jining city in China.
BMC Pediatr
; 18(1): 110, 2018 03 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-29534692
8.
Comprehensive phosphoproteome analysis unravels the core signaling network that initiates the earliest synapse pathology in preclinical Alzheimer's disease brain.
Hum Mol Genet
; 24(2): 540-58, 2015 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25231903
9.
Interleukin-1 receptor accessory protein organizes neuronal synaptogenesis as a cell adhesion molecule.
J Neurosci
; 32(8): 2588-600, 2012 Feb 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-22357843
10.
Variable phenotypes and outcomes associated with the MMACHC c.482G > A mutation: follow-up in a large CblC disease cohort.
World J Pediatr
; 2023 Dec 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38070096
11.
Protein tyrosine phosphatase σ regulates the synapse number of zebrafish olfactory sensory neurons.
J Neurochem
; 119(3): 532-43, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21812780
12.
Reference Standards for Newborn Screening of Metabolic Disorders by Tandem Mass Spectrometry: A Nationwide Study on Millions of Chinese Neonatal Populations.
Front Mol Biosci
; 8: 719866, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34977148
13.
A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients.
Orphanet J Rare Dis
; 16(1): 22, 2021 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33413471
14.
Different mutations in the MMUT gene are associated with the effect of vitamin B12 in a cohort of 266 Chinese patients with mut-type methylmalonic acidemia: A retrospective study.
Mol Genet Genomic Med
; 9(11): e1822, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34668645
15.
Effect of PBNA on the NO content and NOS activity in ischemia/reperfusion injury in the rat retina.
Adv Exp Med Biol
; 664: 501-7, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20238052
16.
Newborn screening and diagnosis of inborn errors of metabolism: A 5-year study in an eastern Chinese population.
Clin Chim Acta
; 502: 133-138, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31893530
17.
Methods to Image Macroautophagy in the Brain In Vivo.
Methods Mol Biol
; 1880: 529-534, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30610719
18.
Newborn Screening for Spinal Muscular Atrophy in China Using DNA Mass Spectrometry.
Front Genet
; 10: 1255, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31921298
19.
Chronic cerebral hypoperfusion shifts the equilibrium of amyloid ß oligomers to aggregation-prone species with higher molecular weight.
Sci Rep
; 9(1): 2827, 2019 02 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-30808940
20.
Expanded Newborn Screening for Inborn Errors of Metabolism and Genetic Characteristics in a Chinese Population.
Front Genet
; 9: 122, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29731766