Detalles de la búsqueda
1.
Heterozygous Seryl-tRNA Synthetase 1 Variants Cause Charcot-Marie-Tooth Disease.
Ann Neurol
; 93(2): 244-256, 2023 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-36088542
2.
Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders.
Am J Hum Genet
; 105(1): 166-176, 2019 07 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-31178126
3.
Sensitivity of Sniffer Dogs for a Diagnosis of Parkinson's Disease: A Diagnostic Accuracy Study.
Mov Disord
; 37(9): 1807-1816, 2022 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-36054272
4.
The Phenotypic and Genetic Spectrum of Paroxysmal Kinesigenic Dyskinesia in China.
Mov Disord
; 35(8): 1428-1437, 2020 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-32392383
5.
Mutations in C1orf194, encoding a calcium regulator, cause dominant Charcot-Marie-Tooth disease.
Brain
; 142(8): 2215-2229, 2019 08 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31199454
6.
[Classification and molecular diagnostic procedure for Chacort-Marie-Tooth disease].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 29(5): 553-7, 2012 Oct.
Artículo
en Zh
| MEDLINE | ID: mdl-23042392
7.
[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.
Artículo
en Zh
| MEDLINE | ID: mdl-22944031
8.
[The effect of HSPB8 gene mutation on cell viability in Charcot-Marie-Tooth disease type 2L].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 28(5): 528-31, 2011 Oct.
Artículo
en Zh
| MEDLINE | ID: mdl-21983727
9.
[Cellular expression of (R127W)HSPB1 and its co-localization with neurofilament light chain].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 28(5): 496-500, 2011 Oct.
Artículo
en Zh
| MEDLINE | ID: mdl-21983720
10.
[Mutation analysis of LITAF, RAB7, LMNA and MTMR2 genes in Chinese Charcot-Marie-Tooth disease.].
Yi Chuan
; 32(8): 817-23, 2010 Aug.
Artículo
en Zh
| MEDLINE | ID: mdl-20709679
11.
[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.
Artículo
en Zh
| MEDLINE | ID: mdl-20193559
12.
Screening for SH3TC2, PMP2, and BSCL2 Variants in a Cohort of Chinese Patients with Charcot-Marie-Tooth.
Chin Med J (Engl)
; 131(2): 151-155, 2018 Jan 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-29336362
13.
[Study on aggregate formation mechanism of HSPB8 gene mutation resulting in CMT2L].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 23(6): 601-4, 2006 Dec.
Artículo
en Zh
| MEDLINE | ID: mdl-17160934
14.
[The wild-type alpha-synuclein over-expression to induce the protein aberrant aggregation of alpha-synuclein in HEK293 cells in vitro].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 23(1): 19-22, 2006 Feb.
Artículo
en Zh
| MEDLINE | ID: mdl-16456779
15.
[Cloning to rule out 10 candidate genes located in chromosome 12q24 for Charcot-Marie-Tooth disease type 2L].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 23(2): 189-91, 2006 Apr.
Artículo
en Zh
| MEDLINE | ID: mdl-16604494
16.
[Mutation analysis of small heat shock protein 27 gene in Chinese patients with Charcot-Marie-Tooth disease].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 22(5): 510-3, 2005 Oct.
Artículo
en Zh
| MEDLINE | ID: mdl-16215937
17.
[Detection of duplications or deletions of the PMP22 gene using real-time quantitative PCR].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 22(5): 537-40, 2005 Oct.
Artículo
en Zh
| MEDLINE | ID: mdl-16215943
18.
Mutation analysis of small heat-shock protein 22 gene in Chinese patients with Charcot-Marie-Tooth disease.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 22(4): 361-3, 2005 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-16086267
19.
Mutation screening of Cx32 in Han Chinese patients with Charcot-Marie-Tooth disease.
Beijing Da Xue Xue Bao Yi Xue Ban
; 37(1): 68-71, 2005 Feb 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-15719046
20.
[Analysis of the pathological features and gene mutations of Chinese patients with Charcot-Marie-Tooth disease].
Zhonghua Yi Xue Za Zhi
; 85(34): 2382-5, 2005 Sep 07.
Artículo
en Zh
| MEDLINE | ID: mdl-16321242