Detalhe da pesquisa
1.
In search of a cure: PACS1 Research Foundation as a model of rare disease therapy development.
Trends Genet
; 38(2): 109-112, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34836651
2.
Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy.
Ann Neurol
; 90(2): 274-284, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34185323
3.
Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia.
Am J Hum Genet
; 101(3): 441-450, 2017 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28823706
4.
Characterization of seizure susceptibility in Pcdh19 mice.
Epilepsia
; 61(10): 2313-2320, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32944953
5.
Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome.
Ann Neurol
; 84(5): 638-647, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30178464
6.
Mutations in CSPP1 lead to classical Joubert syndrome.
Am J Hum Genet
; 94(1): 80-6, 2014 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-24360807
7.
iPSC-derived models of PACS1 syndrome reveal transcriptional and functional deficits in neuron activity.
Nat Commun
; 15(1): 827, 2024 Jan 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38280846
8.
Quantifying differentiation of progenitor populations using cerebral organoid models for neurodevelopmental disorders.
STAR Protoc
; 5(1): 102904, 2024 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38427568
9.
Spatially Resolved Tumor Microenvironment Predicts Treatment Outcomes in Relapsed/Refractory Hodgkin Lymphoma.
J Clin Oncol
; 42(9): 1077-1087, 2024 Mar 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38113419
10.
Impaired migration and premature differentiation underlie the neurological phenotype associated with PCDH12 loss of function.
bioRxiv
; 2023 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36711630
11.
PCDH12 loss results in premature neuronal differentiation and impeded migration in a cortical organoid model.
Cell Rep
; 42(8): 112845, 2023 08 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37480564
12.
Single-cell spatial analysis of tumor immune architecture in diffuse large B-cell lymphoma.
Blood Adv
; 6(16): 4675-4690, 2022 08 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35675517
13.
Reactive oxygen species are related to ionic fluxes and volume decrease in apoptotic cerebellar granule neurons: role of NOX enzymes.
J Neurochem
; 117(4): 654-64, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21371036
14.
Apoptosis and autophagy in rat cerebellar granule neuron death: Role of reactive oxygen species.
J Neurosci Res
; 88(1): 73-85, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19598251
15.
"Very humble" vs. "Not humble": What do ratings of fictitious physician profiles with humility descriptors reveal about potential patient preferences and behaviors?
Patient Educ Couns
; 103(7): 1399-1406, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32019696
16.
PYRC2-Related Hypomyelinating Leukodystrophy: More to This Than Meets the Eye.
Neuron
; 107(1): 3-5, 2020 07 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32645307
17.
NOX2 mediates apoptotic death induced by staurosporine but not by potassium deprivation in cerebellar granule neurons.
J Neurosci Res
; 87(11): 2531-40, 2009 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19360906
18.
Genetic Causes and Modifiers of Autism Spectrum Disorder.
Front Cell Neurosci
; 13: 385, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31481879
19.
Purkinje Cell Survival in Organotypic Cerebellar Slice Cultures.
J Vis Exp
; (154)2019 12 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-31904025
20.
Higher Order Architecture of Designer Peptides Forms Bioinspired 10 nm siRNA Delivery System.
Sci Rep
; 9(1): 16875, 2019 11 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-31728030