Detalhe da pesquisa
1.
Diagnostic value of nerve conduction study in NOTCH2NLC-related neuronal intranuclear inclusion disease.
J Peripher Nerv Syst
; 28(4): 629-641, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37749855
2.
Genotype and phenotype distribution of 435 patients with Charcot-Marie-Tooth disease from central south China.
Eur J Neurol
; 28(11): 3774-3783, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34255403
3.
Mutations in C1orf194, encoding a calcium regulator, cause dominant Charcot-Marie-Tooth disease.
Brain
; 142(8): 2215-2229, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31199454
4.
A novel WARS mutation (p.Asp314Gly) identified in a Chinese distal hereditary motor neuropathy family.
Clin Genet
; 96(2): 176-182, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31069783
5.
MFN2-related genetic and clinical features in a cohort of Chinese CMT2 patients.
J Peripher Nerv Syst
; 21(1): 38-44, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26801520
6.
PMP22-Related neuropathies and other clinical manifestations in Chinese han patients with charcot-marie-tooth disease type 1.
Muscle Nerve
; 52(1): 69-75, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25522693
7.
Two novel MPZ mutations in Chinese CMT patients.
J Peripher Nerv Syst
; 18(3): 256-60, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24028194
8.
MORC2 mutations in a cohort of Chinese patients with Charcot-Marie-Tooth disease type 2.
Brain
; 139(Pt 10): e56, 2016 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27329773
9.
[Classification and molecular diagnostic procedure for Chacort-Marie-Tooth disease].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 29(5): 553-7, 2012 Oct.
Artigo
em Zh
| MEDLINE | ID: mdl-23042392
10.
[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
em Zh
| MEDLINE | ID: mdl-22944031
11.
[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.
Artigo
em Zh
| MEDLINE | ID: mdl-21983727
12.
[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.
Artigo
em Zh
| MEDLINE | ID: mdl-21983720
13.
One PMP22/MPZ and Three MFN2/GDAP1 Concomitant Variants Occurred in a Cohort of 189 Chinese Charcot-Marie-Tooth Families.
Front Neurol
; 12: 736704, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-35153971
14.
[Mutation analysis of LITAF, RAB7, LMNA and MTMR2 genes in Chinese Charcot-Marie-Tooth disease.].
Yi Chuan
; 32(8): 817-23, 2010 Aug.
Artigo
em Zh
| MEDLINE | ID: mdl-20709679
15.
Genetic and Clinical Features in 24 Chinese Distal Hereditary Motor Neuropathy Families.
Front Neurol
; 11: 603003, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33381078
16.
[Clinical and pathologic analysis of an autosomal recessive kindred with nemaline myopathy].
Zhonghua Yi Xue Za Zhi
; 89(47): 3316-9, 2009 Dec 22.
Artigo
em Zh
| MEDLINE | ID: mdl-20193557
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
em Zh
| MEDLINE | ID: mdl-20193559
18.
Analysis of Salivary Microbiome in Patients with Alzheimer's Disease.
J Alzheimers Dis
; 72(2): 633-640, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31594229
19.
A novel AIFM1 mutation in a Chinese family with X-linked Charcot-Marie-Tooth disease type 4.
Neuromuscul Disord
; 28(8): 652-659, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30031633
20.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-29336362