Detalhe da pesquisa
1.
A mutation in the PRKAR1B gene drives pathological mechanisms of neurodegeneration across species.
Brain
; 2024 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38743596
2.
Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF gene.
Genet Med
; 26(3): 101041, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38054406
3.
Psychiatric symptoms of frontotemporal dementia and subcortical (co-)pathology burden: new insights.
Brain
; 146(1): 307-320, 2023 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35136978
4.
Inhibition of the epigenetic suppressor EZH2 primes osteogenic differentiation mediated by BMP2.
J Biol Chem
; 295(23): 7877-7893, 2020 06 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32332097
5.
Somatic TARDBP variants as a cause of semantic dementia.
Brain
; 143(12): 3827-3841, 2020 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33155043
6.
Molecular Pathways Involved in Frontotemporal Lobar Degeneration with TDP-43 Proteinopathy: What Can We Learn from Proteomics?
Int J Mol Sci
; 22(19)2021 Sep 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34638637
7.
Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD.
Acta Neuropathol
; 137(6): 879-899, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30739198
8.
Distinctive pattern of temporal atrophy in patients with frontotemporal dementia and the I383V variant in TARDBP.
J Neurol Neurosurg Psychiatry
; 92(7): 787-789, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33452055
9.
Presymptomatic and early pathological features of MAPT-associated frontotemporal lobar degeneration.
Acta Neuropathol Commun
; 11(1): 126, 2023 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37533060
10.
The reporting of neuropsychiatric symptoms in electronic health records of individuals with Alzheimer's disease: a natural language processing study.
Alzheimers Res Ther
; 15(1): 94, 2023 05 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37173801
11.
Proteomics of the dentate gyrus reveals semantic dementia specific molecular pathology.
Acta Neuropathol Commun
; 10(1): 190, 2022 12 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36578035
12.
Mapping the genetic landscape of early-onset Alzheimer's disease in a cohort of 36 families.
Alzheimers Res Ther
; 14(1): 77, 2022 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35650585
13.
Distinct cell type-specific protein signatures in GRN and MAPT genetic subtypes of frontotemporal dementia.
Acta Neuropathol Commun
; 10(1): 100, 2022 07 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35799292
14.
Novel TUBA4A Variant Associated With Familial Frontotemporal Dementia.
Neurol Genet
; 7(3): e596, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-34169147
15.
Underlying genetic variation in familial frontotemporal dementia: sequencing of 198 patients.
Neurobiol Aging
; 97: 148.e9-148.e16, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32843152
16.
Genome-wide association study of frontotemporal dementia identifies a C9ORF72 haplotype with a median of 12-G4C2 repeats that predisposes to pathological repeat expansions.
Transl Psychiatry
; 11(1): 451, 2021 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34475377
17.
Global Prevalence of Young-Onset Dementia: A Systematic Review and Meta-analysis.
JAMA Neurol
; 78(9): 1080-1090, 2021 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34279544
18.
Clinical and pathologic phenotype of a large family with heterozygous STUB1 mutation.
Neurol Genet
; 6(3): e417, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32337344
19.
Letter to the editor on a paper by Kaivola et al. (2020): carriership of two copies of C9orf72 hexanucleotide repeat intermediate-length alleles is not associated with amyotrophic lateral sclerosis or frontotemporal dementia.
Acta Neuropathol Commun
; 10(1): 141, 2022 09 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-36131298