Detalhe da pesquisa
1.
De novo FRMD5 Missense Variants in Patients with Childhood-Onset Ataxia, Prominent Nystagmus, and Seizures.
Mov Disord
; 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38576116
2.
Delineating the epilepsy phenotype of NGLY1 deficiency.
J Inherit Metab Dis
; 45(3): 571-583, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35243670
3.
Evaluation of Seizure Risk in Infants After Cardiopulmonary Bypass in the Absence of Deep Hypothermic Cardiac Arrest.
Neurocrit Care
; 36(1): 30-38, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34322828
4.
Aicardi-Goutières syndrome may present with positive newborn screen for X-linked adrenoleukodystrophy.
Am J Med Genet A
; 185(6): 1848-1853, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33683010
5.
Deoxycytidine and Deoxythymidine Treatment for Thymidine Kinase 2 Deficiency.
Ann Neurol
; 81(5): 641-652, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28318037
6.
Altered axonal targeting and short-term plasticity in the hippocampus of Disc1 mutant mice.
Proc Natl Acad Sci U S A
; 108(49): E1349-58, 2011 Dec 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-22049344
7.
Ocular features of NGLY1 deficiency from a prospective longitudinal cohort.
J AAPOS
; 28(3): 103925, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38697387
8.
What Have Organoids and Assembloids Taught Us About the Pathophysiology of Neuropsychiatric Disorders?
Biol Psychiatry
; 93(7): 632-641, 2023 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36739210
9.
A Cross-Sectional Study of the Neuropsychiatric Phenotype of CACNA1C-Related Disorder.
Pediatr Neurol
; 138: 101-106, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36436328
10.
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
JAMA Neurol
; 79(12): 1267-1276, 2022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36315135
11.
A Case of Abulia From Left Middle Cerebral Artery Stroke in an Adolescent Treated Successfully With Short Duration Olanzapine.
Clin Neuropharmacol
; 43(3): 86-89, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32384311
12.
A Previously Healthy Adolescent With Acute Psychosis and Severe Hyperhidrosis.
Pediatrics
; 145(6)2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32444380
13.
Differentiation and maturation of oligodendrocytes in human three-dimensional neural cultures.
Nat Neurosci
; 22(3): 484-491, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30692691
14.
Long survival in patients with leigh syndrome and the m.10191T>C mutation in MT-ND3 : a case report and review of the literature.
J Child Neurol
; 29(10): NP105-10, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24284231
15.
Copy number variation and psychiatric disease risk.
Methods Mol Biol
; 838: 97-113, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22228008