Detalhe da pesquisa
1.
VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidification.
Cell
; 137(2): 235-46, 2009 Apr 17.
Artigo
Inglês
| MEDLINE | ID: mdl-19379691
2.
Mutations in the V-ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease.
Hepatology
; 72(6): 1968-1986, 2020 12.
Artigo
Inglês
| MEDLINE | ID: mdl-32145091
3.
Clusterin/Apolipoprotein J immunoreactivity is associated with white matter damage in cerebral small vessel diseases.
Neuropathol Appl Neurobiol
; 42(2): 194-209, 2016 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-25940137
4.
X-linked myopathy with excessive autophagy: a failure of self-eating.
Acta Neuropathol
; 129(3): 383-90, 2015 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-25644398
5.
Hypomorphic Notch 3 alleles link Notch signaling to ischemic cerebral small-vessel disease.
Proc Natl Acad Sci U S A
; 108(21): E128-35, 2011 May 24.
Artigo
Inglês
| MEDLINE | ID: mdl-21555590
6.
The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone.
Nat Genet
; 37(12): 1309-11, 2005 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-16282978
7.
Monoclonal antibodies selective for α-synuclein oligomers/protofibrils recognize brain pathology in Lewy body disorders and α-synuclein transgenic mice with the disease-causing A30P mutation.
J Neurochem
; 126(1): 131-44, 2013 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-23363402
8.
White matter degeneration with Unverricht-Lundborg progressive myoclonus epilepsy: a translational diffusion-tensor imaging study in patients and cystatin B-deficient mice.
Radiology
; 269(1): 232-9, 2013 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-23788720
9.
VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy.
Acta Neuropathol
; 125(3): 439-57, 2013 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-23315026
10.
Multi-infarct dementia of Swedish type is caused by a 3'UTR mutation of COL4A1.
Brain
; 140(5): e29, 2017 05 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28369186
11.
Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene.
J Med Genet
; 49(6): 391-9, 2012 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-22693283
12.
Prolonged myalgia in Sindbis virus infection: case description and in vitro infection of myotubes and myoblasts.
J Infect Dis
; 206(3): 407-14, 2012 Aug 01.
Artigo
Inglês
| MEDLINE | ID: mdl-22615321
13.
Identification of low molecular weight pyroglutamate A{beta} oligomers in Alzheimer disease: a novel tool for therapy and diagnosis.
J Biol Chem
; 285(53): 41517-24, 2010 Dec 31.
Artigo
Inglês
| MEDLINE | ID: mdl-20971852
14.
Gelsolin co-occurs with Lewy bodies in vivo and accelerates α-synuclein aggregation in vitro.
Biochem Biophys Res Commun
; 412(1): 32-8, 2011 Aug 19.
Artigo
Inglês
| MEDLINE | ID: mdl-21798243
15.
Autophagy in neuropathology.
Acta Neuropathol
; 129(3): 333-5, 2015 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-25648862
16.
alpha-Synuclein pathology in the spinal cord autonomic nuclei associates with alpha-synuclein pathology in the brain: a population-based Vantaa 85+ study.
Acta Neuropathol
; 119(6): 715-22, 2010 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-20037761
17.
Differences in aberrant expression and splicing of sarcomeric proteins in the myotonic dystrophies DM1 and DM2.
Acta Neuropathol
; 119(4): 465-79, 2010 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-20066428
18.
Bedside diagnosis of rippling muscle disease in CAV3 p.A46T mutation carriers.
Muscle Nerve
; 41(6): 751-7, 2010 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-20229577
19.
Pyroglutamate Abeta pathology in APP/PS1KI mice, sporadic and familial Alzheimer's disease cases.
J Neural Transm (Vienna)
; 117(1): 85-96, 2010 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-19823761
20.
Notch signaling regulates platelet-derived growth factor receptor-beta expression in vascular smooth muscle cells.
Circ Res
; 102(12): 1483-91, 2008 Jun 20.
Artigo
Inglês
| MEDLINE | ID: mdl-18483410