Detalhe da pesquisa
1.
Clinical and genetic characterization of NEFL-related neuropathy in Taiwan.
J Formos Med Assoc
; 122(2): 132-138, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36031490
2.
Exome sequencing identifies GNB4 mutations as a cause of dominant intermediate Charcot-Marie-Tooth disease.
Am J Hum Genet
; 92(3): 422-30, 2013 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23434117
3.
GGC Repeat Expansion of NOTCH2NLC in Taiwanese Patients With Inherited Neuropathies.
Neurology
; 98(2): e199-e206, 2022 01 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34675106
4.
Mutation spectrum of Charcot-Marie-Tooth disease among the Han Chinese in Taiwan.
Ann Clin Transl Neurol
; 6(6): 1090-1101, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-31211173
5.
Comparison of two PCR-based molecular methods in the diagnosis of CMT 1A and HNPP diseases in Chinese.
Clin Neurol Neurosurg
; 110(5): 466-71, 2008 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-18353535
6.
[Charcot-Marie-Tooth disease].
Acta Neurol Taiwan
; 17(3): 203-13, 2008 Sep.
Artigo
em Zh
| MEDLINE | ID: mdl-18975529
7.
Clinical and Molecular Characterization of PMP22 point mutations in Taiwanese patients with Inherited Neuropathy.
Sci Rep
; 7(1): 15363, 2017 11 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29127354
8.
Allele-specific all-or-none PCR product diagnostic strategy for Charcot-Marie-Tooth 1A and hereditary neuropathy with liability to pressure palsies.
J Chin Med Assoc
; 69(2): 68-73, 2006 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-16570573
9.
Clinical and Molecular Characterization of BSCL2 Mutations in a Taiwanese Cohort with Hereditary Neuropathy.
PLoS One
; 11(1): e0147677, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26815532
10.
Clinical and biophysical characterization of 19 GJB1 mutations.
Ann Clin Transl Neurol
; 3(11): 854-865, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27844031
11.
Median nerve motor conduction velocity is concordant with myelin protein zero gene mutation.
J Neurol
; 252(2): 151-5, 2005 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-15729519
12.
Coexistence of Charcot Marie Tooth disease type 1A and diabetes in Taiwan: A clinicopathological study.
J Neurol Sci
; 358(1-2): 213-20, 2015 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26349404
13.
Myelin protein zero gene mutations in Taiwanese patients with Charcot-Marie-Tooth disease type 1.
J Neurol Sci
; 219(1-2): 95-100, 2004 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-15050444
14.
A novel TFG mutation causes Charcot-Marie-Tooth disease type 2 and impairs TFG function.
Neurology
; 83(10): 903-12, 2014 Sep 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-25098539
15.
Mutational analysis of the 5' non-coding region of GJB1 in a Taiwanese cohort with Charcot-Marie-Tooth neuropathy.
J Neurol Sci
; 332(1-2): 51-5, 2013 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23827825
16.
Electrophysiological characterization of Charcot-Marie-Tooth disease type 1A in Taiwan.
J Chin Med Assoc
; 75(5): 197-202, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22632984
17.
The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan.
PLoS One
; 6(12): e29393, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-22206013
18.
Clinical characterization and genetic analysis of a possible novel type of dominant Charcot-Marie-Tooth disease.
Neuromuscul Disord
; 20(8): 534-9, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20627571
19.
Cellular characterization of MPZ mutations presenting with diverse clinical phenotypes.
J Neurol
; 257(10): 1661-8, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20461396
20.
Charcot-Marie-Tooth disease type 1A: a clinical, electrophysiological, pathological, and genetic study.
Chang Gung Med J
; 27(4): 300-6, 2004 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-15239197