Detalhe da pesquisa
1.
Early autoimmunity and outcome in virus encephalitis: a retrospective study based on tissue-based assay.
J Neurol Neurosurg Psychiatry
; 94(8): 605-613, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37225405
2.
Whole-Exome Sequencing Identified a Novel Mutation in RNF216 in a Family with Gordon Holmes Syndrome.
J Mol Neurosci
; 72(4): 691-694, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35088240
3.
Common genetic variants in PRRC2A are associated with both neuromyelitis optica spectrum disorder and multiple sclerosis in Han Chinese population.
J Neurol
; 268(2): 506-515, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32862241
4.
Association between novel TARDBP mutations and Chinese patients with amyotrophic lateral sclerosis.
BMC Med Genet
; 11: 8, 2010 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-20082726
5.
High frequency of Machado-Joseph disease identified in southeastern Chinese kindreds with spinocerebellar ataxia.
BMC Med Genet
; 11: 47, 2010 Mar 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-20334689
6.
A novel de novo RNF216 mutation associated with autosomal recessive Huntington-like disorder.
Ann Clin Transl Neurol
; 7(5): 860-864, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32358900
7.
A novel mutation in the senataxin gene identified in a Chinese patient with sporadic amyotrophic lateral sclerosis.
Amyotroph Lateral Scler
; 10(2): 118-22, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19058054
8.
Tuberous Sclerosis Complex in Chinese patients: Phenotypic analysis and mutational screening of TSC1/TSC2 genes.
Seizure
; 71: 322-327, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31525612
9.
Novel mutation in the ABCA1 gene identified in a chinese patient with dementia and atherothrombotic cerebral infarction.
Dement Geriatr Cogn Disord
; 26(3): 234-8, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18841006
10.
Mutation analysis of 218 Chinese patients with Wilson disease revealed no correlation between the canine copper toxicosis gene MURR1 and Wilson disease.
J Mol Med (Berl)
; 84(5): 438-42, 2006 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-16649058
11.
Clinical features and mutation spectrum in Chinese patients with CADASIL: A multicenter retrospective study.
CNS Neurosci Ther
; 23(9): 707-716, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28710804
12.
Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis.
Theranostics
; 6(5): 638-49, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27022412
13.
Variants of Interleukin-7/Interleukin-7 Receptor Alpha are Associated with Both Neuromyelitis Optica and Multiple Sclerosis Among Chinese Han Population in Southeastern China.
Chin Med J (Engl)
; 128(22): 3062-8, 2015 Nov 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-26608987
14.
Variants of Interferon Regulatory Factor 5 are Associated with Neither Neuromyelitis Optica Nor Multiple Sclerosis in the Southeastern Han Chinese Population.
Chin Med J (Engl)
; 128(13): 1743-7, 2015 Jul 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26112714
15.
Variants of CYP27B1 are associated with both multiple sclerosis and neuromyelitis optica patients in Han Chinese population.
Gene
; 557(2): 236-9, 2015 Feb 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-25542806
16.
No association between identified multiple sclerosis non-MHC risk loci and neuromyelitis optica.
Neurosci Bull
; 30(6): 1036-1044, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24927785
17.
Variants of autophagy-related gene 5 are associated with neuromyelitis optica in the Southern Han Chinese population.
Autoimmunity
; 47(8): 563-6, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24953774
18.
Variants in the promoter region of CYP7A1 are associated with neuromyelitis optica but not with multiple sclerosis in the Han Chinese population.
Neurosci Bull
; 29(5): 525-30, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23740208
19.
Novel SLC20A2 mutations identified in southern Chinese patients with idiopathic basal ganglia calcification.
Gene
; 529(1): 159-62, 2013 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23939468
20.
A Chinese pedigree with an individual homozygous for CAG repeats of Huntington's disease.
Psychiatr Genet
; 22(1): 53-4, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21610555