Detalhe da pesquisa
1.
INF2 mutations in patients with a broad phenotypic spectrum of Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis.
J Peripher Nerv Syst
; 28(1): 108-118, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36637069
2.
Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype.
J Neurol Neurosurg Psychiatry
; 93(1): 48-56, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34518334
3.
CEP41-mediated ciliary tubulin glutamylation drives angiogenesis through AURKA-dependent deciliation.
EMBO Rep
; 21(2): e48290, 2020 02 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31885126
4.
Variants of aminoacyl-tRNA synthetase genes in Charcot-Marie-Tooth disease: A Korean cohort study.
J Peripher Nerv Syst
; 27(1): 38-49, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34813128
5.
Fibulin 5, a human Wharton's jelly-derived mesenchymal stem cells-secreted paracrine factor, attenuates peripheral nervous system myelination defects through the Integrin-RAC1 signaling axis.
Stem Cells
; 2020 Oct 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-33107705
6.
Loss-of-function of EBP50 is a new cause of hereditary peripheral neuropathy: EBP50 functions in peripheral nerve system.
Glia
; 68(9): 1794-1809, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32077526
7.
Homozygous mutations in Pakistani consanguineous families with prelingual nonsyndromic hearing loss.
Mol Biol Rep
; 47(12): 9979-9985, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33269433
8.
Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family.
Neurogenetics
; 20(3): 117-127, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31011849
9.
Compound heterozygous mutations of SH3TC2 in Charcot-Marie-Tooth disease type 4C patients.
J Hum Genet
; 64(9): 961-965, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31227790
10.
A Mutation in PMP2 Causes Dominant Demyelinating Charcot-Marie-Tooth Neuropathy.
PLoS Genet
; 12(2): e1005829, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26828946
11.
Cerebral white matter abnormalities in patients with charcot-marie-tooth disease.
Ann Neurol
; 81(1): 147-151, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27863451
12.
A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy.
Brain
; 140(5): 1252-1266, 2017 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28369220
13.
Differentiation of Human Tonsil-Derived Mesenchymal Stem Cells into Schwann-Like Cells Improves Neuromuscular Function in a Mouse Model of Charcot-Marie-Tooth Disease Type 1A.
Int J Mol Sci
; 19(8)2018 Aug 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-30110925
14.
Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.
Am J Hum Genet
; 95(5): 590-601, 2014 Nov 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-25439726
15.
ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy.
Ann Neurol
; 79(2): 231-43, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26506222
16.
Axonal Charcot-Marie-Tooth neuropathy concurrent with distal and proximal weakness by translational elongation of the 3' UTR in NEFH.
J Peripher Nerv Syst
; 22(3): 200-207, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28544463
17.
DGAT2 Mutation in a Family with Autosomal-Dominant Early-Onset Axonal Charcot-Marie-Tooth Disease.
Hum Mutat
; 37(5): 473-80, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26786738
18.
Identification of Korean-specific SNP markers from whole-exome sequencing data.
Int J Legal Med
; 130(3): 669-77, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26862047
19.
Charcot-Marie-Tooth Disease Type 4H Resulting from Compound Heterozygous Mutations in FGD4 from Nonconsanguineous Korean Families.
Ann Hum Genet
; 79(6): 460-9, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26400421
20.
Severe phenotypes in a Charcot-Marie-Tooth 1A patient with PMP22 triplication.
J Hum Genet
; 60(2): 103-6, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25500726