Detalhe da pesquisa
1.
Abnormal behavior in a chromosome-engineered mouse model for human 15q11-13 duplication seen in autism.
Cell
; 137(7): 1235-46, 2009 Jun 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-19563756
2.
Apparent diffusion coefficient values can predict neuromotor outcome in term neonates with hypoxic-ischaemic encephalopathy.
Acta Paediatr
; 113(2): 191-198, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37874257
3.
Two Siblings Showing a Mild Phenotype of Joubert Syndrome with a Specific CEP290 Variant.
Neuropediatrics
; 54(3): 217-221, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35642300
4.
Perturbation of monoamine metabolism and enhanced fear responses in mice defective in the regeneration of tetrahydrobiopterin.
J Neurochem
; 161(2): 129-145, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35233765
5.
The Incidence of Intraventricular Hemorrhage in Low-Birth-Weight Infants: Assessment by Magnetic Resonance Imaging.
Neuropediatrics
; 53(4): 246-250, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35843217
6.
Prenatal clinical manifestations in individuals with COL4A1/2 variants.
J Med Genet
; 58(8): 505-513, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32732225
7.
Morphological changes in the pons and cerebellum during the first two weeks in term infants with pontine and cerebellar injury and profound neonatal asphyxia.
Acta Radiol
; 63(8): 1110-1117, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34259022
8.
Diffusion restriction in the corticospinal tract and the corpus callosum of term neonates with hypoxic-ischemic encephalopathy.
Pediatr Radiol
; 52(7): 1356-1369, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35294621
9.
Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses.
Hum Mutat
; 42(1): 50-65, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33131168
10.
Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing.
J Med Genet
; 56(6): 396-407, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30842224
11.
Magnetic resonance imaging features of four neonates with total brain injury.
Childs Nerv Syst
; 36(6): 1223-1229, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31865401
12.
Pontine and cerebellar injury in neonatal hypoxic-ischemic encephalopathy: MRI features and clinical outcomes.
Acta Radiol
; 61(10): 1398-1405, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31979976
13.
Diffusion pseudonormalization and clinical outcome in term neonates with hypoxic-ischemic encephalopathy.
Pediatr Radiol
; 48(6): 865-874, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29417166
14.
Verification of the ability of the new MRI classification system to predict neurodevelopmental outcome in very low-birth-weight infants.
Brain Dev
; 44(9): 605-611, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-35798636
15.
Diffusion Restriction in the Optic Radiation of Term Neonates With Hypoxic-Ischemic Encephalopathy Demonstrated by Magnetic Resonance Imaging (MRI).
J Child Neurol
; 36(11): 950-957, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34547931
16.
Clinical manifestations and epilepsy treatment in Japanese patients with pathogenic CDKL5 variants.
Brain Dev
; 43(4): 505-514, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33436160
17.
Mice with altered myelin proteolipid protein gene expression display cognitive deficits accompanied by abnormal neuron-glia interactions and decreased conduction velocities.
J Neurosci
; 29(26): 8363-71, 2009 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-19571127
18.
Leigh syndrome with Fukuyama congenital muscular dystrophy: a case report.
Brain Dev
; 36(8): 730-3, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24113355
19.
Enhanced stability of hippocampal place representation caused by reduced magnesium block of NMDA receptors in the dentate gyrus.
Mol Brain
; 7: 44, 2014 Jun 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-24893573
20.
Comprehensive behavioral analysis of pituitary adenylate cyclase-activating polypeptide (PACAP) knockout mice.
Front Behav Neurosci
; 6: 58, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23060763