Detalhe da pesquisa
1.
Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders.
Am J Hum Genet
; 105(1): 166-176, 2019 07 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31178126
2.
Identification of the Largest SCA36 Pedigree in Asia: with Multimodel Neuroimaging Evaluation for the First Time.
Cerebellum
; 21(3): 358-367, 2022 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-34264505
3.
Expansion of GGC repeat in the human-specific NOTCH2NLC gene is associated with essential tremor.
Brain
; 143(1): 222-233, 2020 01 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31819945
4.
Coding mutations in NUS1 contribute to Parkinson's disease.
Proc Natl Acad Sci U S A
; 115(45): 11567-11572, 2018 11 06.
Artigo
Inglês
| MEDLINE | ID: mdl-30348779
5.
Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene.
Hum Mol Genet
; 27(4): 625-637, 2018 02 15.
Artigo
Inglês
| MEDLINE | ID: mdl-29294000
6.
Long-read sequencing identified intronic repeat expansions in SAMD12 from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy.
J Med Genet
; 56(4): 265-270, 2019 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30194086
7.
Exome sequencing identifies POU4F3 as the causative gene for a large Chinese family with non-syndromic hearing loss.
J Hum Genet
; 62(2): 317-320, 2017 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-27535032
8.
miR-222 attenuates cisplatin-induced cell death by targeting the PPP2R2A/Akt/mTOR Axis in bladder cancer cells.
J Cell Mol Med
; 20(3): 559-67, 2016 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-26800397
9.
Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene.
Hum Mol Genet
; 27(4): 757-758, 2018 02 15.
Artigo
Inglês
| MEDLINE | ID: mdl-29351621
10.
Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias.
Brain
; 134(Pt 12): 3493-3501, 2011 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-22120146
11.
[Analysis of CX32 gene mutation and related clinical features in Chinese Han Charcot-Marie-Tooth families].
Zhonghua Yi Xue Za Zhi
; 92(21): 1463-7, 2012 Jun 05.
Artigo
Chinês
| MEDLINE | ID: mdl-22944031
12.
Loss of the collagen IV modifier prolyl 3-hydroxylase 2 causes thin basement membrane nephropathy.
J Clin Invest
; 132(9)2022 05 02.
Artigo
Inglês
| MEDLINE | ID: mdl-35499085
13.
TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing.
Brain
; 133(Pt 12): 3510-8, 2010 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-21106500
14.
[Linkage analysis of susceptibility loci in 2 target chromosomes in pedigrees with paranoid schizophrenia and undifferentiated schizophrenia].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 28(3): 256-60, 2011 Jun.
Artigo
Chinês
| MEDLINE | ID: mdl-21644218
15.
[Mutation analysis of LITAF, RAB7, LMNA and MTMR2 genes in Chinese Charcot-Marie-Tooth disease.].
Yi Chuan
; 32(8): 817-23, 2010 Aug.
Artigo
Chinês
| MEDLINE | ID: mdl-20709679
16.
Mutation analysis of CAPN1 in Chinese populations with spastic paraplegia and related neurodegenerative diseases.
J Neurol Sci
; 411: 116691, 2020 Apr 15.
Artigo
Inglês
| MEDLINE | ID: mdl-31982778
17.
[Mutation analysis of MFN2 gene in Chinese patients with Charcot-Marie-Tooth disease].
Zhonghua Yi Xue Za Zhi
; 89(47): 3324-7, 2009 Dec 22.
Artigo
Chinês
| MEDLINE | ID: mdl-20193559
18.
[Mutations of Cx26 gene in patients with NSHL and intracellular distribution of two mutants].
Yi Chuan
; 31(7): 705-12, 2009 Jul.
Artigo
Chinês
| MEDLINE | ID: mdl-19586875
19.
[Mutation screening of 20 candidate genes located in chromo-some 5q31-5q32 for DFNA52 locus].
Yi Chuan
; 31(1): 43-9, 2009 Jan.
Artigo
Chinês
| MEDLINE | ID: mdl-19138900
20.
[A novel mutation of CYP1B1 gene in primary congenital glaucoma].
Zhonghua Yan Ke Za Zhi
; 45(10): 875-8, 2009 Oct.
Artigo
Chinês
| MEDLINE | ID: mdl-20137445