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.
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
4.
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
5.
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
6.
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
7.
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
8.
Genetic and Clinical Features in 24 Chinese Distal Hereditary Motor Neuropathy Families.
Front Neurol
; 11: 603003, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33381078