Detalhe da pesquisa
1.
MTSS1/Src family kinase dysregulation underlies multiple inherited ataxias.
Proc Natl Acad Sci U S A
; 115(52): E12407-E12416, 2018 12 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-30530649
2.
Loss of cerebellar glutamate transporters EAAT4 and GLAST differentially affects the spontaneous firing pattern and survival of Purkinje cells.
Hum Mol Genet
; 27(15): 2614-2627, 2018 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29741614
3.
PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins.
Am J Hum Genet
; 100(5): 706-724, 2017 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28413018
4.
Posterior cerebellar Purkinje cells in an SCA5/SPARCA1 mouse model are especially vulnerable to the synergistic effect of loss of ß-III spectrin and GLAST.
Hum Mol Genet
; 25(20): 4448-4461, 2016 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28173092
5.
Cerebellar ataxias: ß-III spectrin's interactions suggest common pathogenic pathways.
J Physiol
; 594(16): 4661-76, 2016 08 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26821241
6.
ß-III spectrin underpins ankyrin R function in Purkinje cell dendritic trees: protein complex critical for sodium channel activity is impaired by SCA5-associated mutations.
Hum Mol Genet
; 23(14): 3875-82, 2014 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24603075
7.
De novo point mutations in patients diagnosed with ataxic cerebral palsy.
Brain
; 138(Pt 7): 1817-32, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25981959
8.
Recessive mutations in SPTBN2 implicate ß-III spectrin in both cognitive and motor development.
PLoS Genet
; 8(12): e1003074, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23236289
9.
Clinical implications and molecular features of extracellular matrix networks in soft tissue sarcomas.
Clin Cancer Res
; 2024 May 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38810090
10.
Enhanced hippocampal LTP but normal NMDA receptor and AMPA receptor function in a rat model of CDKL5 deficiency disorder.
Mol Autism
; 15(1): 28, 2024 Jun 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38877552
11.
The proteomic landscape of soft tissue sarcomas.
Nat Commun
; 14(1): 3834, 2023 06 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37386008
12.
ß-III spectrin is critical for development of purkinje cell dendritic tree and spine morphogenesis.
J Neurosci
; 31(46): 16581-90, 2011 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-22090485
13.
Beta-III spectrin mutation L253P associated with spinocerebellar ataxia type 5 interferes with binding to Arp1 and protein trafficking from the Golgi.
Hum Mol Genet
; 19(18): 3634-41, 2010 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20603325
14.
The use of video laryngoscopy outside the operating room: A systematic review.
PLoS One
; 17(10): e0276420, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36264980
15.
Proteomic Profiling Identifies Co-Regulated Expression of Splicing Factors as a Characteristic Feature of Intravenous Leiomyomatosis.
Cancers (Basel)
; 14(12)2022 Jun 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35740573
16.
Loss of beta-III spectrin leads to Purkinje cell dysfunction recapitulating the behavior and neuropathology of spinocerebellar ataxia type 5 in humans.
J Neurosci
; 30(14): 4857-67, 2010 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-20371805
17.
Altered network properties in C9ORF72 repeat expansion cortical neurons are due to synaptic dysfunction.
Mol Neurodegener
; 16(1): 13, 2021 03 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33663561
18.
Epidemiology and clinical features of emergency department patients with suspected and confirmed COVID-19: A multisite report from the COVID-19 Emergency Department Quality Improvement Project for July 2020 (COVED-3).
Emerg Med Australas
; 33(1): 114-124, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32959497
19.
Transactive response DNA-binding protein-43 proteinopathy in oligodendrocytes revealed using an induced pluripotent stem cell model.
Brain Commun
; 3(4): fcab255, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-35350711
20.
Smartphone use and perceptions of their benefit and detriment within Australian anaesthetic practice.
Anaesth Intensive Care
; 48(5): 366-372, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-33021808