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.
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.
Mol Psychiatry
; 28(2): 668-697, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36385166
3.
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
4.
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
5.
Paroxysmal Dyskinesias Revealing 3-Hydroxy-Isobutyryl-CoA Hydrolase (HIBCH) Deficiency.
Neuropediatrics
; 52(5): 410-414, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33506479
6.
Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.
Am J Hum Genet
; 101(3): 428-440, 2017 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28823707
7.
Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome.
J Med Genet
; 55(5): 329-343, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29572252
8.
Voltage-gated potassium channels autoantibodies in a child with rasmussen encephalitis.
Neuropediatrics
; 45(5): 336-40, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25062271
9.
Clinical and Electrophysiological Characterization of Essential Tremor in 18 Children and Adolescents.
Tremor Other Hyperkinet Mov (N Y)
; 13: 46, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38145278
10.
Renal disease in Cockayne syndrome.
Eur J Med Genet
; 63(1): 103612, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30630117
11.
Increased diagnostic yield in complex dystonia through exome sequencing.
Parkinsonism Relat Disord
; 74: 50-56, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32334381
12.
Relapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3.
Eur J Paediatr Neurol
; 23(3): 448-455, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-30862413
13.
Delineating FOXG1 syndrome: From congenital microcephaly to hyperkinetic encephalopathy.
Neurol Genet
; 4(6): e281, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30533527