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.
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
4.
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
5.
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
6.
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
7.
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
8.
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
9.
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
10.
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
11.
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
12.
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
13.
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
14.
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
15.
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
16.
A novel homozygous MPV17 mutation in two families with axonal sensorimotor polyneuropathy.
BMC Neurol
; 15: 179, 2015 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26437932
17.
Gene Distribution in Pediatric-Onset Inherited Peripheral Neuropathy: A Single Tertiary Center in Thailand.
J Neuromuscul Dis
; 11(1): 191-199, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-37927275
18.
A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth disease.
BMC Med Genet
; 14: 125, 2013 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24314034
19.
Peripheral Neuropathy and Decreased Locomotion of a RAB40B Mutation in Human and Model Animals.
Exp Neurobiol
; 32(6): 410-422, 2023 Dec 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-38196136
20.
Whole-genome sequencing in clinically diagnosed Charcot-Marie-Tooth disease undiagnosed by whole-exome sequencing.
Brain Commun
; 5(3): fcad139, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37180992