Detalhe da pesquisa
1.
Heterozygous Seryl-tRNA Synthetase 1 Variants Cause Charcot-Marie-Tooth Disease.
Ann Neurol
; 93(2): 244-256, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36088542
2.
Genotype-phenotype correlations of AR-CMT2S in a cohort of axonal Charcot-Marie-Tooth patients from Central South China.
J Peripher Nerv Syst
; 2024 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38772550
3.
Genetic and clinical profile of 15 Chinese families with GDAP1-related Charcot-Marie-Tooth disease and identification of H256R as a frequent mutation.
J Peripher Nerv Syst
; 2024 May 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38705839
4.
Expanding the genetic and clinical spectrum of SORD-related peripheral neuropathy by reporting a novel variant c.210T>G and evidence of subclinical muscle involvement.
J Peripher Nerv Syst
; 28(4): 608-613, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37584201
5.
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
6.
Clinical and molecular genetic characteristics of 24 families of hereditary neuropathy with liability to pressure palsy and literature review. / éä¼ æ§ååæææ§å¨å´ç¥ç»ç 24个家系ç临åºåååéä¼ å¦ç¹å¾åæç®å顾.
Zhong Nan Da Xue Xue Bao Yi Xue Ban
; 48(10): 1572-1582, 2023 Oct 28.
Artigo
em Inglês, Zh
| MEDLINE | ID: mdl-38432886
7.
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
em Inglês
| MEDLINE | ID: mdl-31178126
8.
Sensitivity of Sniffer Dogs for a Diagnosis of Parkinson's Disease: A Diagnostic Accuracy Study.
Mov Disord
; 37(9): 1807-1816, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36054272
9.
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
10.
The Phenotypic and Genetic Spectrum of Paroxysmal Kinesigenic Dyskinesia in China.
Mov Disord
; 35(8): 1428-1437, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32392383
11.
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
12.
[Research advance of underlying pathogenesis and target therapies in Charcot-Marie-Tooth disease type 1A].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(5): 578-583, 2020 May 10.
Artigo
em Zh
| MEDLINE | ID: mdl-32335891
13.
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
14.
Guillain-Barré syndrome in southern China: retrospective analysis of hospitalised patients from 14 provinces in the area south of the Huaihe River.
J Neurol Neurosurg Psychiatry
; 89(6): 618-626, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29326294
15.
Listeria Monocytogenes Meningoencephalitis Due to IRAK4 Deficiency.
J Clin Immunol
; 41(7): 1677-1680, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34232442
16.
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
17.
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
18.
Association between weekend catch-up sleep and depression of the United States population from 2017 to 2018: A cross-sectional study.
Sleep Med
; 119: 9-16, 2024 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38631161
19.
Phenotype-driven reanalysis reveals five novel pathogenic variants in 40 exome-negative families with Charcot-Marie-Tooth Disease.
J Neurol
; 271(1): 497-503, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37776383
20.
Metagenomic next-generation sequencing of cell-free DNA for the identification of viruses causing central nervous system infections.
Microbiol Spectr
; 12(1): e0226423, 2024 Jan 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38095471