Detalhe da pesquisa
1.
Isolated homozygous R217X OPTN mutation causes knock-out of functional C-terminal optineurin domains and associated oligodendrogliopathy-dominant ALS-TDP.
J Neurol Neurosurg Psychiatry
; 92(9): 1022-1024, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33727253
2.
High-Depth PRNP Sequencing in Brains With Sporadic Creutzfeldt-Jakob Disease.
Neurol Genet
; 9(1): e200054, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36686280
3.
Longitudinal Analysis of Respiratory Function of Different Types of Limb Girdle Muscular Dystrophies Reveals Independent Trajectories.
Neurol Genet
; 9(4): e200084, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37440793