Detalhe da pesquisa
1.
ALDH5A1-deficient iPSC-derived excitatory and inhibitory neurons display cell type specific alterations.
Neurobiol Dis
; 190: 106386, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38110041
2.
Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency.
Mol Genet Metab
; 142(1): 108363, 2024 Mar 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38452608
3.
Interictal EEG source connectivity to localize the epileptogenic zone in patients with drug-resistant epilepsy: A machine learning approach.
Epilepsia
; 65(4): 944-960, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38318986
4.
Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency.
J Inherit Metab Dis
; 2024 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38581234
5.
Non-invasive mapping of epileptogenic networks predicts surgical outcome.
Brain
; 146(5): 1916-1931, 2023 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36789500
6.
Spike propagation mapping reveals effective connectivity and predicts surgical outcome in epilepsy.
Brain
; 146(9): 3898-3912, 2023 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37018068
7.
Sleep Spindle Generation Before and After Epilepsy Surgery: A Source Imaging Study in Children with Drug-Resistant Epilepsy.
Brain Topogr
; 37(1): 88-101, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37737957
8.
Treatable inherited metabolic epilepsies.
Epilepsy Behav
; 151: 109621, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38237465
9.
Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants.
Hum Genet
; 142(12): 1755-1776, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37962671
10.
Clinical and biochemical footprints of inherited metabolic diseases. XV. Epilepsies.
Mol Genet Metab
; 140(3): 107690, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37659319
11.
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Mol Genet Metab
; 139(3): 107624, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37348148
12.
Eating disorders occur at high rates in adolescents with epilepsy and are associated with psychiatric comorbidities and suicidality.
Epilepsia
; 64(11): 2982-2992, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37611929
13.
The presence and severity of epilepsy coincide with reduced γ-aminobutyrate and cortical excitatory markers in succinic semialdehyde dehydrogenase deficiency.
Epilepsia
; 64(6): 1516-1526, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36961285
14.
Glymphatic dysfunction coincides with lower GABA levels and sleep disturbances in succinic semialdehyde dehydrogenase deficiency.
J Sleep Res
; : e14105, 2023 Dec 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38148273
15.
Establishment and validation of a clinical severity scoring system for succinic semialdehyde dehydrogenase deficiency.
J Inherit Metab Dis
; 46(5): 992-1003, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37219411
16.
Treatment of neurometabolic epilepsies: Overview and recent advances.
Epilepsy Behav
; 142: 109181, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37001467
17.
Fetal anomaly diagnosis and termination of pregnancy.
Dev Med Child Neurol
; 65(7): 900-907, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36732680
18.
Autism spectrum disorder and GABA levels in children with succinic semialdehyde dehydrogenase deficiency.
Dev Med Child Neurol
; 65(12): 1596-1606, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37246331
19.
Childhood-onset hereditary spastic paraplegia and its treatable mimics.
Mol Genet Metab
; 137(4): 436-444, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34183250
20.
Noninvasive Mapping of Ripple Onset Predicts Outcome in Epilepsy Surgery.
Ann Neurol
; 89(5): 911-925, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33710676