Detalhe da pesquisa
1.
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
2.
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
3.
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
4.
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, Chinês
| MEDLINE | ID: mdl-38432886
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.
[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 Chinês
| MEDLINE | ID: mdl-32335891
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