Detalhe da pesquisa
1.
Novel Homozygous Truncating Variant Widens the Spectrum of Early-Onset Multisystemic SYNE1 Ataxia.
Cerebellum
; 21(3): 514-519, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-34318393
2.
Enhancement of Autophagy and Solubilization of Ataxin-2 Alleviate Apoptosis in Spinocerebellar Ataxia Type 2 Patient Cells.
Cerebellum
; 19(2): 165-181, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31898278
3.
Serum Neurofilament Light in Patients with Frontotemporal Dementia Caused by CHMP2B Mutation.
Dement Geriatr Cogn Disord
; 49(6): 533-538, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33626531
4.
Early microgliosis precedes neuronal loss and behavioural impairment in mice with a frontotemporal dementia-causing CHMP2B mutation.
Hum Mol Genet
; 26(5): 873-887, 2017 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28093491
5.
SCA28: Novel Mutation in the AFG3L2 Proteolytic Domain Causes a Mild Cerebellar Syndrome with Selective Type-1 Muscle Fiber Atrophy.
Cerebellum
; 16(1): 62-67, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-26868664
6.
Frontotemporal dementia caused by CHMP2B mutation is characterised by neuronal lysosomal storage pathology.
Acta Neuropathol
; 130(4): 511-23, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26358247
7.
Tubulin polymerization-promoting protein (TPPP/p25α) promotes unconventional secretion of α-synuclein through exophagy by impairing autophagosome-lysosome fusion.
J Biol Chem
; 288(24): 17313-35, 2013 Jun 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-23629650
8.
Cognitive impairment in the preclinical stage of dementia in FTD-3 CHMP2B mutation carriers: a longitudinal prospective study.
J Neurol Neurosurg Psychiatry
; 84(2): 170-6, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23142962
9.
Endo-lysosomal protein concentrations in CSF from patients with frontotemporal dementia caused by CHMP2B mutation.
Alzheimers Dement (Amst)
; 15(1): e12402, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36815874
10.
Golgi fragmentation - One of the earliest organelle phenotypes in Alzheimer's disease neurons.
Front Neurosci
; 17: 1120086, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36875643
11.
Reversal of pathology in CHMP2B-mediated frontotemporal dementia patient cells using RNA interference.
J Gene Med
; 14(8): 521-9, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22786763
12.
Severe and rapidly progressing cognitive phenotype in a SCA17-family with only marginally expanded CAG/CAA repeats in the TATA-box binding protein gene: a case report.
BMC Neurol
; 12: 73, 2012 Aug 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-22889412
13.
Knockdown of GAD67 protein levels normalizes neuronal activity in a rat model of Parkinson's disease.
J Gene Med
; 13(3): 188-97, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21449035
14.
Astrocytic reactivity triggered by defective autophagy and metabolic failure causes neurotoxicity in frontotemporal dementia type 3.
Stem Cell Reports
; 16(11): 2736-2751, 2021 11 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34678206
15.
Compromised IGF signaling causes caspase-6 activation in Huntington disease.
Exp Neurol
; 332: 113396, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32622701
16.
Neuron-specific RNA interference using lentiviral vectors.
J Gene Med
; 11(7): 559-69, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19434604
17.
Inflammatory markers of CHMP2B-mediated frontotemporal dementia.
J Neuroimmunol
; 324: 136-142, 2018 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30193769
18.
Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2.
Eur J Hum Genet
; 21(6): 626-9, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23047744
19.
Dysfunctional mitochondrial respiration in the striatum of the Huntington's disease transgenic R6/2 mouse model.
PLoS Curr
; 52013 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-23568011
20.
ATXN2 with intermediate-length CAG/CAA repeats does not seem to be a risk factor in hereditary spastic paraplegia.
J Neurol Sci
; 321(1-2): 100-2, 2012 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22868089