Detalhe da pesquisa
1.
Long-term treatment with ganaxolone for seizures associated with cyclin-dependent kinase-like 5 deficiency disorder: Two-year open-label extension follow-up.
Epilepsia
; 65(1): 37-45, 2024 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-37950390
2.
Timing the clinical onset of epileptic spasms in infantile epileptic spasms syndrome: A tertiary health center's experience.
Epilepsia
; 65(4): 984-994, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-38317356
3.
CDKL5 deficiency disorder and other infantile-onset genetic epilepsies.
Dev Med Child Neurol
; 66(4): 456-468, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-37771170
4.
Anaerobic gut fungi are an untapped reservoir of natural products.
Proc Natl Acad Sci U S A
; 118(18)2021 05 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33906945
5.
Benchmark dose profiles for bivariate exposures.
Risk Anal
; 2024 Apr 23.
Artigo
Inglês
| MEDLINE | ID: mdl-38651726
6.
Rat bronchoalveolar lavage proteome changes following e-cigarette aerosol exposures.
Am J Physiol Lung Cell Mol Physiol
; 324(5): L571-L583, 2023 05 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36881561
7.
New insights into the natural history of bronchopulmonary dysplasia from proteomics and multiplexed immunohistochemistry.
Am J Physiol Lung Cell Mol Physiol
; 325(4): L419-L433, 2023 10 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37489262
8.
Ezogabine impacts seizures and development in patients with KCNQ2 developmental and epileptic encephalopathy.
Epilepsia
; 64(7): e143-e147, 2023 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37096745
9.
Epileptic spasms in CDKL5 deficiency disorder: Delayed treatment and poor response to first-line therapies.
Epilepsia
; 64(7): 1821-1832, 2023 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37114835
10.
Assessing the landscape of STXBP1-related disorders in 534 individuals.
Brain
; 145(5): 1668-1683, 2022 06 03.
Artigo
Inglês
| MEDLINE | ID: mdl-35190816
11.
Characterization of the GABRB2-Associated Neurodevelopmental Disorders.
Ann Neurol
; 89(3): 573-586, 2021 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33325057
12.
Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain.
Am J Med Genet A
; 188(12): 3516-3524, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-35934918
13.
Proteomic Profiling of the Substantia Nigra to Identify Determinants of Lewy Body Pathology and Dopaminergic Neuronal Loss.
J Proteome Res
; 20(5): 2266-2282, 2021 05 07.
Artigo
Inglês
| MEDLINE | ID: mdl-33900085
14.
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.
Am J Hum Genet
; 102(5): 995-1007, 2018 05 03.
Artigo
Inglês
| MEDLINE | ID: mdl-29656858
15.
Effects of prenatal alcohol exposure on cognitive and behavioral development: Findings from a hierarchical meta-analysis of data from six prospective longitudinal U.S. cohorts.
Alcohol Clin Exp Res
; 45(10): 2040-2058, 2021 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34342030
16.
Modelling and treating GRIN2A developmental and epileptic encephalopathy in mice.
Brain
; 143(7): 2039-2057, 2020 07 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32577763
17.
Cerebral visual impairment in CDKL5 deficiency disorder: vision as an outcome measure.
Dev Med Child Neurol
; 63(11): 1308-1315, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34028805
18.
Repetitive diacetyl vapor exposure promotes ubiquitin proteasome stress and precedes bronchiolitis obliterans pathology.
Arch Toxicol
; 95(7): 2469-2483, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-34031698
19.
Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort.
Epilepsia
; 61(2): 249-258, 2020 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31957018
20.
Biological concepts in human sodium channel epilepsies and their relevance in clinical practice.
Epilepsia
; 61(3): 387-399, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-32090326