Detalhe da pesquisa
1.
Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly.
Am J Hum Genet
; 109(10): 1909-1922, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36044892
2.
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.
Genet Med
; 25(1): 76-89, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36331550
3.
Neurofilament light levels predict clinical progression and death in multiple system atrophy.
Brain
; 145(12): 4398-4408, 2022 12 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35903017
4.
Brain region-specific susceptibility of Lewy body pathology in synucleinopathies is governed by α-synuclein conformations.
Acta Neuropathol
; 143(4): 453-469, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35141810
5.
Update on leukodystrophies and developing trials.
J Neurol
; 271(1): 593-605, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37755460
6.
Letter to the editor on: Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions by Park et al. (2022).
Acta Neuropathol Commun
; 12(1): 2, 2024 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38167323