Detalhe da pesquisa
1.
Functional characterization of the novel DES mutation p.L136P associated with dilated cardiomyopathy reveals a dominant filament assembly defect.
J Mol Cell Cardiol
; 91: 207-14, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26724190
2.
Rational design of a cytotoxic dinuclear Cu2 complex that binds by molecular recognition at two neighboring phosphates of the DNA backbone.
Inorg Chem
; 54(6): 2679-90, 2015 Mar 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-25650993
3.
Dual color photoactivation localization microscopy of cardiomyopathy-associated desmin mutants.
J Biol Chem
; 287(19): 16047-57, 2012 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-22403400
4.
De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy.
Hum Mol Genet
; 19(23): 4595-607, 2010 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-20829228
5.
A novel desmin (DES) indel mutation causes severe atypical cardiomyopathy in combination with atrioventricular block and skeletal myopathy.
Mol Genet Genomic Med
; 6(2): 288-293, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29274115
6.
Arrhythmogenic cardiomyopathy related DSG2 mutations affect desmosomal cadherin binding kinetics.
Sci Rep
; 7(1): 13791, 2017 10 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-29062102
7.
Apertureless scanning near-field optical microscopy of sparsely labeled tobacco mosaic viruses and the intermediate filament desmin.
Beilstein J Nanotechnol
; 4: 510-6, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24062977
8.
The novel desmin mutant p.A120D impairs filament formation, prevents intercalated disk localization, and causes sudden cardiac death.
Circ Cardiovasc Genet
; 6(6): 615-23, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24200904
9.
Functional characterization of desmin mutant p.P419S.
Eur J Hum Genet
; 21(6): 589-90, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23032110