Detalhe da pesquisa
1.
Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders.
Hum Mol Genet
; 30(22): 2068-2081, 2021 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34170319
2.
Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile Encephalopathy.
Am J Hum Genet
; 105(1): 48-64, 2019 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31178128
3.
G4C2 Repeat RNA Initiates a POM121-Mediated Reduction in Specific Nucleoporins in C9orf72 ALS/FTD.
Neuron
; 107(6): 1124-1140.e11, 2020 09 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-32673563