Detalhe da pesquisa
1.
Genetic variants of unknown significance in alpha-galactosidase A: Cellular delineation from Fabry disease.
J Inherit Metab Dis
; 2024 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38618884
2.
In vitro characterization of cells derived from a patient with the GLA variant c.376A>G (p.S126G) highlights a non-pathogenic role in Fabry disease.
Mol Genet Metab Rep
; 38: 101029, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38469097
3.
Elevated interleukin-8 expression by skin fibroblasts as a potential contributor to pain in women with Fabry disease.
PLoS One
; 19(4): e0300687, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38593151
4.
Small fibre neuropathy in Fabry disease: a human-derived neuronal in vitro disease model and pilot data.
Brain Commun
; 6(2): fcae095, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38638148
5.
Different binding and pathogenic effect of neurofascin and contactin-1 autoantibodies in autoimmune nodopathies.
Front Immunol
; 14: 1189734, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37388725
6.
Anti-contactin-1 Antibodies Affect Surface Expression and Sodium Currents in Dorsal Root Ganglia.
Neurol Neuroimmunol Neuroinflamm
; 8(5)2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34429341