Detalhe da pesquisa
1.
Recessive NUP54 Variants Underlie Early-Onset Dystonia with Striatal Lesions.
Ann Neurol
; 93(2): 330-335, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36333996
2.
Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation.
Epilepsia
; 63(10): 2519-2533, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35718920
3.
Movement disorders in valine métabolism diseases caused by HIBCH and ECHS1 deficiencies.
Eur J Neurol
; 29(11): 3229-3242, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36200804
4.
De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy.
J Med Genet
; 53(12): 850-858, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27358180
5.
Recurrent familial case of early childhood sudden death: Complex post mortem genetic investigations.
Forensic Sci Int Genet
; 71: 103028, 2024 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38518711
6.
Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia.
Eur J Hum Genet
; 28(10): 1403-1413, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32467598