Detalhe da pesquisa
1.
Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans.
Hum Mol Genet
; 26(6): 1078-1086, 2017 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28087732
2.
The expression of the MSC-marker CD73 and of NF2/Merlin are correlated in meningiomas.
J Neurooncol
; 138(2): 251-259, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29468444
3.
Novel GCH1 Compound Heterozygosity Mutation in Infancy-Onset Generalized Dystonia.
Neuropediatrics
; 49(4): 296-297, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29471552
4.
In-depth Characterization of the Homodimerization Domain of the Transcription Factor THAP1 and Dystonia-Causing Mutations Therein.
J Mol Neurosci
; 62(1): 11-16, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28299530
5.
Functional Characterization of Rare RAB12 Variants and Their Role in Musician's and Other Dystonias.
Genes (Basel)
; 8(10)2017 Oct 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-29057844