Detalhe da pesquisa
1.
Alzheimer's polygenic risk scores are associated with cognitive phenotypes in Down syndrome.
Alzheimers Dement
; 20(2): 1038-1049, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37855447
2.
Dominantly inherited Alzheimer's disease in Latin America: Genetic heterogeneity and clinical phenotypes.
Alzheimers Dement
; 17(4): 653-664, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33226734
3.
A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers.
Brain
; 141(10): 2895-2907, 2018 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30252044
4.
Hypermethylation of the CpG-island near the C9orf72 G4C2-repeat expansion in FTLD patients.
Hum Mol Genet
; 23(21): 5630-7, 2014 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24908669
5.
The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients.
Acta Neuropathol
; 129(5): 715-27, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25716178
6.
Systematic proteomics in Autosomal dominant Alzheimer's disease reveals decades-early changes of CSF proteins in neuronal death, and immune pathways.
medRxiv
; 2024 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38260583
7.
Notch signaling proteins HES-1 and Hey-1 bind to insulin degrading enzyme (IDE) proximal promoter and repress its transcription and activity: implications for cellular Aß metabolism.
Biochim Biophys Acta
; 1823(2): 227-35, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22036964
8.
Generation of a human induced pluripotent stem cell line (INEUi001-A) from an amyotrophic lateral sclerosis/frontotemporal dementia patient with a C9ORF72 G4C2 genotype of <2 (GGGGCCG) and 10 repeats.
Stem Cell Res
; 69: 103076, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36963214
9.
A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects.
Genome Med
; 14(1): 27, 2022 03 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35260199
10.
Mutation analysis of CHCHD10 in different neurodegenerative diseases.
Brain
; 138(Pt 9): e380, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25833818
11.
A novel mutation in PSEN1 (p.T119I) in an Argentine family with early- and late-onset Alzheimer's disease.
Neurobiol Aging
; 85: 155.e9-155.e12, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31153663
12.
Evaluation of Cerebrospinal Fluid Neurofilament Light Chain as a Routine Biomarker in a Memory Clinic.
J Gerontol A Biol Sci Med Sci
; 74(4): 442-445, 2019 03 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-30107413
13.
Argentina-Alzheimer's disease neuroimaging initiative (Arg-ADNI): neuropsychological evolution profile after one-year follow up.
Arq Neuropsiquiatr
; 76(4): 231-240, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-29742242
14.
Intrafamilial variable phenotype including corticobasal syndrome in a family with p.P301L mutation in the MAPT gene: first report in South America.
Neurobiol Aging
; 53: 195.e11-195.e17, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28268100
15.
Perry disease in an Argentine family due to the DCTN1 p.G67D variant.
Parkinsonism Relat Disord
; 97: 63-64, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35325666
16.
Tslc1 (nectin-like molecule-2) is essential for spermatozoa motility and male fertility.
J Androl
; 27(6): 816-25, 2006.
Artigo
em Inglês
| MEDLINE | ID: mdl-16837733
17.
Predicting episodic memory performance using different biomarkers: results from Argentina-Alzheimer's Disease Neuroimaging Initiative.
Neuropsychiatr Dis Treat
; 12: 2199-2206, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27695331
18.
Analysis of C9orf72 in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Argentina.
Neurobiol Aging
; 40: 192.e13-192.e15, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26925510
19.
Effect of merlin phosphorylation on neurofibromatosis 2 (NF2) gene function.
Oncogene
; 23(2): 580-7, 2004 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-14724586
20.
Serine 518 phosphorylation modulates merlin intramolecular association and binding to critical effectors important for NF2 growth suppression.
Oncogene
; 23(52): 8447-54, 2004 Nov 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-15378014