Detalhe da pesquisa
1.
Involvement of mTOR pathway in neurodegeneration in NSF-related developmental and epileptic encephalopathy.
Hum Mol Genet
; 32(10): 1683-1697, 2023 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36645181
2.
A 37-Year-Old Man With Intellectual Disability Discovered to Have Aspartylglucosaminuria: Implications for the Diagnosis of Genetic Causes.
Neurol Genet
; 10(3): e200161, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38831911
3.
Ketogenic Diet Therapy for Intractable Epilepsy in Infantile Alexander Disease: A Small Case Series and Analyses of Astroglial Chemokines and Proinflammatory Cytokines.
Epilepsy Res
; 170: 106519, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33395615
4.
Isolated sixth nerve palsy as an initial presentation of primary angiitis of the central nervous system.
Brain Dev
; 43(8): 884-888, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34053793
5.
Inflammatory neuropathology of infantile Alexander disease: A case report.
Brain Dev
; 42(1): 64-68, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31455510