Detalhe da pesquisa
1.
Reply: The expanding neurological phenotype of DNM1L-related disorders.
Brain
; 141(4): e29, 2018 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29529130
2.
Next-Generation Sequencing Identifies Novel PMPCA Variants in Patients with Late-Onset Dominant Optic Atrophy.
Genes (Basel)
; 13(7)2022 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35885985
3.
Glutamate-Induced Deregulation of Krebs Cycle in Mitochondrial Encephalopathy Lactic Acidosis Syndrome Stroke-Like Episodes (MELAS) Syndrome Is Alleviated by Ketone Body Exposure.
Biomedicines
; 10(7)2022 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35884972
4.
Dominant ACO2 mutations are a frequent cause of isolated optic atrophy.
Brain Commun
; 3(2): fcab063, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34056600
5.
Primary fibroblasts derived from sporadic amyotrophic lateral sclerosis patients do not show ALS cytological lesions.
Amyotroph Lateral Scler Frontotemporal Degener
; 19(5-6): 446-456, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29382228