Detalhe da pesquisa
1.
The Daam2-VHL-Nedd4 axis governs developmental and regenerative oligodendrocyte differentiation.
Genes Dev
; 34(17-18): 1177-1189, 2020 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32792353
2.
Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy.
Am J Hum Genet
; 110(6): 989-997, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37167966
3.
PIK3CA variants selectively initiate brain hyperactivity during gliomagenesis.
Nature
; 578(7793): 166-171, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31996845
4.
Intracranial calcifications simulating Aicardi-Goutières syndrome in PARS2-related mitochondrial disease.
Am J Med Genet A
; : e63589, 2024 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38469956
5.
A Role for Insulin-like Growth Factor 1 in the Generation of Epileptic Spasms in a murine model.
Ann Neurol
; 92(1): 45-60, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35467038
6.
A Teenage Boy With a Radiation-Induced High-Grade Astrocytoma.
J Neuroophthalmol
; 2023 Dec 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38096031
7.
Circulating tumor DNA sequencing of pediatric solid and brain tumor patients: An institutional feasibility study.
Pediatr Hematol Oncol
; 40(8): 719-738, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37366551
8.
Double Vision and Gait Ataxia in an Immunocompetent 9-Year-Old Girl With Intracranial Phaeohyphomycosis.
J Neuroophthalmol
; 41(3): 399-403, 2021 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33630777
9.
Ependymoma Presenting as a -Rim-Enhancing Lesion in the Brainstem.
Pediatr Neurosurg
; 56(5): 455-459, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34148044
10.
New generation lipid emulsions increase brain DHA and improve body composition, but not short-term neurodevelopment in parenterally-fed preterm piglets.
Brain Behav Immun
; 85: 46-56, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31026499
11.
GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment.
Am J Med Genet A
; 182(5): 1167-1176, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32181591
12.
Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum.
Am J Med Genet A
; 179(3): 386-396, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30652412
13.
Spontaneous Regression of Atypical Teratoid Rhabdoid Tumor Without Therapy in a Patient With Uncommon Regional Inactivation of SMARCB1 ( hSNF5/INI1).
Pediatr Dev Pathol
; 22(2): 161-165, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30470167
14.
ATRX protein loss and deregulation of PI3K/AKT pathway is frequent in pilocytic astrocytoma with anaplastic features.
Clin Neuropathol
; 38(2): 59-73, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30499772
15.
The use of BRAF V600E mutation-specific immunohistochemistry in pediatric Langerhans cell histiocytosis.
Hematol Oncol
; 36(1): 307-315, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-28219109
16.
Five-Year-Old Boy With Behavioral Changes and Papilledema.
J Neuroophthalmol
; 38(1): 75-80, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28991098
17.
Temporal Profiling of Astrocyte Precursors Reveals Parallel Roles for Asef during Development and after Injury.
J Neurosci
; 36(47): 11904-11917, 2016 11 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-27881777
18.
Rasmussen encephalitis with dual pathology in a patient without seizures: case report and literature review.
Childs Nerv Syst
; 31(11): 2165-71, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26033376
19.
Mouse model reveals the role of SOX7 in the development of congenital diaphragmatic hernia associated with recurrent deletions of 8p23.1.
Hum Mol Genet
; 21(18): 4115-25, 2012 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22723016
20.
In vivo functional characterization of EGFR variants identifies novel drivers of glioblastoma.
Neuro Oncol
; 25(3): 471-481, 2023 03 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36044040