Detalhe da pesquisa
1.
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
2.
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
3.
Bright and Dark Quadrupolar Excitons in the WSe_{2}/MoSe_{2}/WSe_{2} Heterotrilayer.
Phys Rev Lett
; 131(18): 186901, 2023 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37977607
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.
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
6.
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
7.
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
8.
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
9.
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
10.
Body composition and inflammation variables as the potential prognostic factors in epithelial ovarian cancer treated with Olaparib.
Front Oncol
; 14: 1359635, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38725625
11.
Radiogenomic analysis based on lipid metabolism-related subset for non-invasive prediction for prognosis of renal clear cell carcinoma.
Eur J Radiol
; 175: 111433, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38554673
12.
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
13.
Immunosenescence of brain accelerates Alzheimer's disease progression.
Rev Neurosci
; 34(1): 85-101, 2023 01 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35791032
14.
A conjoint analysis of bulk RNA-seq and single-nucleus RNA-seq for revealing the role of ferroptosis and iron metabolism in ALS.
Front Neurosci
; 17: 1113216, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36937665
15.
Ultrasonography-based radiomics and computer-aided diagnosis in thyroid nodule management: performance comparison and clinical strategy optimization.
Front Endocrinol (Lausanne)
; 14: 1140816, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37251675
16.
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
17.
Accelerated aging-related transcriptome alterations in neurovascular unit cells in the brain of Alzheimer's disease.
Front Aging Neurosci
; 14: 949074, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36062157
18.
Novel Insight Into the Role of Immune Dysregulation in Amyotrophic Lateral Sclerosis Based on Bioinformatic Analysis.
Front Neurosci
; 15: 657465, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33994932
19.
Identification of an individualized RNA binding protein-based prognostic signature for diffuse large B-cell lymphoma.
Cancer Med
; 10(8): 2703-2713, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33749163
20.
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