Detalhe da pesquisa
1.
Charcot-Marie-tooth disease causing mutation (p.R158H) in pyruvate dehydrogenase kinase 3 (PDK3) affects synaptic transmission, ATP production and causes neurodegeneration in a CMTX6 C. elegans model.
Hum Mol Genet
; 31(1): 133-145, 2021 12 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34387338
2.
Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3.
PLoS Genet
; 12(7): e1006177, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27438001
3.
SOX10 regulates an alternative promoter at the Charcot-Marie-Tooth disease locus MTMR2.
Hum Mol Genet
; 25(18): 3925-3936, 2016 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27466180
4.
A 1.35 Mb DNA fragment is inserted into the DHMN1 locus on chromosome 7q34-q36.2.
Hum Genet
; 135(11): 1269-1278, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27487800
5.
Distal enhancers upstream of the Charcot-Marie-Tooth type 1A disease gene PMP22.
Hum Mol Genet
; 21(7): 1581-91, 2012 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22180461
6.
Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation.
Mol Genet Genomic Med
; 6(3): 422-433, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29573232
7.
Unique clinical and neurophysiologic profile of a cohort of children with CMTX3.
Neurology
; 90(19): e1706-e1710, 2018 05 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29626178
8.
Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.
Mol Genet Genomic Med
; 3(2): 143-54, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25802885