Detalhe da pesquisa
1.
The choroid plexus links innate immunity to CSF dysregulation in hydrocephalus.
Cell
; 186(4): 764-785.e21, 2023 02 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36803604
2.
A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus.
Brain
; 147(4): 1553-1570, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38128548
3.
Distal hereditary motor neuronopathy of the Jerash type is caused by a novel SIGMAR1 c.500A>T missense mutation.
J Med Genet
; 57(3): 178-186, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31511340
4.
Inflammatory hydrocephalus.
Childs Nerv Syst
; 37(11): 3341-3353, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34164718
5.
Hyperactivity of newborn Pten knock-out neurons results from increased excitatory synaptic drive.
J Neurosci
; 35(3): 943-59, 2015 Jan 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-25609613
6.
Rapamycin prevents, but does not reverse, aberrant migration in Pten knockout neurons.
Neurobiol Dis
; 93: 12-20, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-26992888
7.
Human genetics and molecular genomics of Chiari malformation type 1.
Trends Mol Med
; 29(12): 1059-1075, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37802664
8.
A novel SMARCC1 -mutant BAFopathy implicates epigenetic dysregulation of neural progenitors in hydrocephalus.
medRxiv
; 2023 Mar 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36993720
9.
Genetic dysregulation of an endothelial Ras signaling network in vein of Galen malformations.
bioRxiv
; 2023 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-36993588
10.
Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations.
Nat Commun
; 14(1): 7452, 2023 11 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37978175
11.
Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus.
Nat Neurosci
; 25(4): 458-473, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35379995
12.
PTEN mutations in autism spectrum disorder and congenital hydrocephalus: developmental pleiotropy and therapeutic targets.
Trends Neurosci
; 44(12): 961-976, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34625286
13.
Risk Factors for the Development of Post-Traumatic Hydrocephalus in Children.
World Neurosurg
; 141: e105-e111, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32389871
14.
Comparison of epidemiology, treatments, and outcomes in pediatric versus adult ependymoma.
Neurooncol Adv
; 2(1): vdaa019, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32642681
15.
Risk Factors Portending Extended Length of Stay After Suboccipital Decompression for Adult Chiari I Malformation.
World Neurosurg
; 138: e515-e522, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32147550
16.
Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus.
Nat Med
; 26(11): 1754-1765, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33077954
17.
Recessive Inheritance of Congenital Hydrocephalus With Other Structural Brain Abnormalities Caused by Compound Heterozygous Mutations in ATP1A3.
Front Cell Neurosci
; 13: 425, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31616254
18.
Nuclear Excluded Autism-Associated Phosphatase and Tensin Homolog Mutations Dysregulate Neuronal Growth.
Biol Psychiatry
; 84(4): 265-277, 2018 08 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29373119
19.
De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus.
Neuron
; 99(2): 302-314.e4, 2018 07 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-29983323
20.
Digenic mutations of human OCRL paralogs in Dent's disease type 2 associated with Chiari I malformation.
Hum Genome Var
; 3: 16042, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-28018608