Detalhe da pesquisa
1.
Elevated 4R-tau in astrocytes from asymptomatic carriers of the MAPT 10+16 intronic mutation.
J Cell Mol Med
; 26(4): 1327-1331, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34951131
2.
Fulminant corticobasal degeneration: a distinct variant with predominant neuronal tau aggregates.
Acta Neuropathol
; 139(4): 717-734, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31950334
3.
Developmental regulation of tau splicing is disrupted in stem cell-derived neurons from frontotemporal dementia patients with the 10 + 16 splice-site mutation in MAPT.
Hum Mol Genet
; 24(18): 5260-9, 2015 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26136155
4.
Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.
Am J Hum Genet
; 95(5): 611-21, 2014 Nov 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-25439728
5.
Glucocerebrosidase mutations confer a greater risk of dementia during Parkinson's disease course.
Mov Disord
; 27(3): 393-9, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22173904
6.
Using the neanderthal and denisova genetic data to understand the common MAPT 17q21 inversion in modern humans.
Hum Biol
; 84(6): 633-40, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23959642
7.
A clinical, molecular genetics and pathological study of a FTDP-17 family with a heterozygous splicing variant c.823-10G>T at the intron 9/exon 10 of the MAPT gene.
Neurobiol Aging
; 106: 343.e1-343.e8, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34274155
8.
Genetics of cleft lip and/or cleft palate: association with other common anomalies.
Eur J Med Genet
; 57(8): 381-93, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24768816
9.
Rare variants in calcium homeostasis modulator 1 (CALHM1) found in early onset Alzheimer's disease patients alter calcium homeostasis.
PLoS One
; 8(9): e74203, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24069280
10.
Dementia risk in Parkinson disease: disentangling the role of MAPT haplotypes.
Arch Neurol
; 68(3): 359-64, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21403021
11.
[Genetics of Alzheimer's disease]. / Genética en la enfermedad de Alzheimer.
Rev Neurol
; 50(6): 360-4, 2010 Mar 16.
Artigo
em Espanhol
| MEDLINE | ID: mdl-20309834
12.
Genética en la enfermedad de Alzheimer / Genetics of Alzheimers disease
Rev. neurol. (Ed. impr.)
; 50(6): 360-364, 16 mar., 2010. tab
Artigo
em Espanhol
| IBECS (Espanha) | ID: ibc-86819