Detalhe da pesquisa
1.
Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome.
Genet Med
; 24(11): 2399-2407, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36083289
2.
X-linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibition.
Acta Neuropathol
; 144(3): 537-563, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35844027
3.
Mouse model of severe recessive RYR1-related myopathy.
Hum Mol Genet
; 28(18): 3024-3036, 2019 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31107960
4.
Characterization of a Clival Chordoma Xenograft Model Reveals Tumor Genomic Instability.
Am J Pathol
; 188(12): 2902-2911, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30248342
5.
Conditional knockout of pik3c3 causes a murine muscular dystrophy.
Am J Pathol
; 184(6): 1819-30, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24726497
6.
A preclinical study demonstrating the efficacy of nilotinib in inhibiting the growth of pediatric high-grade glioma.
J Neurooncol
; 122(3): 471-80, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25732621
7.
The role of drebrin in glioma migration and invasion.
Exp Cell Res
; 319(4): 517-28, 2013 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23201135
8.
Biallelic pathogenic variants in the mitochondrial form of phosphoenolpyruvate carboxykinase cause peripheral neuropathy.
HGG Adv
; 4(2): 100182, 2023 04 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36845668
9.
Frequent ATRX mutations and loss of expression in adult diffuse astrocytic tumors carrying IDH1/IDH2 and TP53 mutations.
Acta Neuropathol
; 124(5): 615-25, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22886134
10.
Natural history of a mouse model of X-linked myotubular myopathy.
Dis Model Mech
; 15(7)2022 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35694952
11.
Uropathogenic E. coli infection provokes epigenetic downregulation of CDKN2A (p16INK4A) in uroepithelial cells.
Lab Invest
; 91(6): 825-36, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21242958
12.
Mammalian target of rapamycin (mTOR) induces proliferation and de-differentiation responses to three coordinate pathophysiologic stimuli (mechanical strain, hypoxia, and extracellular matrix remodeling) in rat bladder smooth muscle.
Am J Pathol
; 176(1): 304-19, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20019183
13.
MRI-guided focused ultrasound enhances drug delivery in experimental diffuse intrinsic pontine glioma.
J Control Release
; 330: 1034-1045, 2021 02 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33188825
14.
Inhibition of TRPM7 with waixenicin A reduces glioblastoma cellular functions.
Cell Calcium
; 92: 102307, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33080445
15.
High-grade glioma formation results from postnatal pten loss or mutant epidermal growth factor receptor expression in a transgenic mouse glioma model.
Cancer Res
; 66(15): 7429-37, 2006 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-16885338
16.
Tamoxifen therapy in a murine model of myotubular myopathy.
Nat Commun
; 9(1): 4849, 2018 11 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-30451841
17.
Brainstem blood brain barrier disruption using focused ultrasound: A demonstration of feasibility and enhanced doxorubicin delivery.
J Control Release
; 281: 29-41, 2018 07 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29753957
18.
Matrix metalloproteinase-7 and epidermal growth factor receptor mediate hypoxia-induced extracellular signal-regulated kinase 1/2 mitogen-activated protein kinase activation and subsequent proliferation in bladder smooth muscle cells.
In Vitro Cell Dev Biol Anim
; 42(5-6): 124-33, 2006.
Artigo
em Inglês
| MEDLINE | ID: mdl-16848631
19.
PIK3C2B inhibition improves function and prolongs survival in myotubular myopathy animal models.
J Clin Invest
; 126(9): 3613-25, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27548528
20.
A role for activated Cdc42 in glioblastoma multiforme invasion.
Oncotarget
; 7(35): 56958-56975, 2016 08 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-27486972