Detalhe da pesquisa
1.
De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities.
Am J Med Genet A
; 194(1): 17-30, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37743782
2.
Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients.
Genet Med
; 25(4): 100352, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36473599
3.
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.
J Inherit Metab Dis
; 43(6): 1333-1348, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32681751
4.
Responsive neurostimulation of thalamic nuclei for regional and multifocal drug-resistant epilepsy in children and young adults.
J Neurosurg Pediatr
; : 1-9, 2024 Apr 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38608307
5.
Cardiac crises: Cardiac arrhythmias and cardiomyopathy during TANGO2 deficiency related metabolic crises.
Heart Rhythm
; 19(10): 1673-1681, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35568137
6.
Voltage-gated Potassium Channel Antibody Autoimmune Encephalopathy Presenting With Isolated Psychosis in an Adolescent.
J Psychiatr Pract
; 23(6): 441-445, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29303952