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.
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
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.
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.
Photo-Fenton self-cleaning carbon fibers membrane supported with Zr-MOF@Fe2O3 for effective phosphate removal from algae-rich water.
Chemosphere
; 323: 138175, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-36863624
8.
Surface biofunctionalization of three-dimensional porous poly(lactic acid) scaffold using chitosan/OGP coating for bone tissue engineering.
Mater Sci Eng C Mater Biol Appl
; 77: 92-101, 2017 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28532111