Detalhe da pesquisa
1.
Cognitive Impairment Is Part of the Phenotype of Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (CANVAS).
Mov Disord
; 2024 Mar 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38480525
2.
Motor neuron pathology in CANVAS due to RFC1 expansions.
Brain
; 145(6): 2121-2132, 2022 06 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-34927205
3.
Conservative Iron Chelation for Neuroferritinopathy.
Mov Disord
; 37(9): 1948-1952, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35996824
4.
Functional Analyses of Two Novel LRRK2 Pathogenic Variants in Familial Parkinson's Disease.
Mov Disord
; 37(8): 1761-1767, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35708213
5.
Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations.
Neurogenetics
; 22(1): 71-79, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33486633
6.
Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms.
Brain
; 143(1): 303-319, 2020 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31855245
7.
The TMEM240 Protein, Mutated in SCA21, Is Expressed in Purkinje Cells and Synaptic Terminals.
Cerebellum
; 19(3): 358-369, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32002801
8.
Exacerbation of C1q dysregulation, synaptic loss and memory deficits in tau pathology linked to neuronal adenosine A2A receptor.
Brain
; 142(11): 3636-3654, 2019 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31599329
9.
Two RFC1 splicing variants in CANVAS.
Brain
; 146(3): e14-e16, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36478048
10.
Reply: Early-onset phenotype of bi-allelic GRN mutations.
Brain
; 144(2): e23, 2021 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33351057
11.
Reply: Two heterozygous progranulin mutations in progressive supranuclear palsy.
Brain
; 144(3): e28, 2021 04 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33428710
12.
The MAPT gene is differentially methylated in the progressive supranuclear palsy brain.
Mov Disord
; 31(12): 1883-1890, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27709663
13.
TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment.
Brain
; 137(Pt 10): 2657-63, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25070513
14.
Late-onset Kjellin syndrome: Diagnosis of SPG11 on fundus examination.
Eur J Ophthalmol
; : 11206721241247418, 2024 Apr 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38613257
15.
Neuronal ApoE4 stimulates C/EBPß activation, promoting Alzheimer's disease pathology in a mouse model.
Prog Neurobiol
; 209: 102212, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34958873
16.
Equilibrative nucleoside transporter 1 inhibition rescues energy dysfunction and pathology in a model of tauopathy.
Acta Neuropathol Commun
; 9(1): 112, 2021 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34158119
17.
P2X7-deficiency improves plasticity and cognitive abilities in a mouse model of Tauopathy.
Prog Neurobiol
; 206: 102139, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34391810
18.
Isolated parkinsonism is an atypical presentation of GRN and C9orf72 gene mutations.
Parkinsonism Relat Disord
; 80: 73-81, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32961397
19.
Cramp-fasciculation syndrome phenotype of cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) due to RFC1 repeat expansion.
Clin Neurophysiol
; 134: 34-36, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34968871
20.
Alternative promoter usage generates novel shorter MAPT mRNA transcripts in Alzheimer's disease and progressive supranuclear palsy brains.
Sci Rep
; 7(1): 12589, 2017 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28974731