Detalhe da pesquisa
1.
LRRC37B is a human modifier of voltage-gated sodium channels and axon excitability in cortical neurons.
Cell;
186(26): 5766-5783.e25, 2023 12 21.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38134874
2.
Mitochondria-to-nucleus retrograde signaling drives formation of cytoplasmic chromatin and inflammation in senescence.
Genes Dev;
34(5-6): 428-445, 2020 03 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32001510
3.
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
Am J Hum Genet;
110(7): 1098-1109, 2023 07 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37301203
4.
Hepatic glutamine synthetase controls N5-methylglutamine in homeostasis and cancer.
Nat Chem Biol;
19(3): 292-300, 2023 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36280791
5.
TREM2 variants that cause early dementia and increase Alzheimer's disease risk affect gene splicing.
Brain;
2024 Jan 16.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38226698
6.
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance.
Cell;
140(1): 74-87, 2010 Jan 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20074521
7.
Aß and tau prions feature in the neuropathogenesis of Down syndrome.
Proc Natl Acad Sci U S A;
119(46): e2212954119, 2022 11 16.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36343257
8.
Evidence of mutant huntingtin and tau-related pathology within neuronal grafts in Huntington's disease cases.
Neurobiol Dis;
198: 106542, 2024 May 27.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38810948
9.
Anti-Cholestatic Therapy with Obeticholic Acid Improves Short-Term Memory in Bile Duct-Ligated Mice.
Am J Pathol;
193(1): 11-26, 2023 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36243043
10.
A familial missense variant in the Alzheimer's disease gene SORL1 impairs its maturation and endosomal sorting.
Acta Neuropathol;
147(1): 20, 2024 Jan 20.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38244079
11.
Aberrant splicing of PSEN2, but not PSEN1, in individuals with sporadic Alzheimer's disease.
Brain;
146(2): 507-518, 2023 02 13.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35949106
12.
Absent expansion of AXIN2+ hepatocytes and altered physiology in Axin2CreERT2 mice challenges the role of pericentral hepatocytes in homeostatic liver regeneration.
J Hepatol;
78(5): 1028-1036, 2023 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36702176
13.
Amyloid-Related Imaging Abnormalities in the DIAN-TU-001 Trial of Gantenerumab and Solanezumab: Lessons from a Trial in Dominantly Inherited Alzheimer Disease.
Ann Neurol;
92(5): 729-744, 2022 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36151869
14.
Clinical outcomes in relapsed oropharyngeal cancer after definitive (chemo) radiotherapy.
Oral Dis;
29(2): 595-603, 2023 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34338394
15.
CXCR2 inhibition enables NASH-HCC immunotherapy.
Gut;
2022 Apr 27.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35477863
16.
Patterns of CAG repeat instability in the central nervous system and periphery in Huntington's disease and in spinocerebellar ataxia type 1.
Hum Mol Genet;
29(15): 2551-2567, 2020 08 29.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32761094
17.
Beneficial Noncancerous Mutations in Liver Disease.
Trends Genet;
35(7): 475-477, 2019 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31151757
18.
Spinal cord-predominant neuropathology in an adult-onset case of POLR3A-related spastic ataxia.
Neuropathology;
42(1): 58-65, 2022 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34753215
19.
Genome wide analysis reveals heparan sulfate epimerase modulates TDP-43 proteinopathy.
PLoS Genet;
15(12): e1008526, 2019 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31834878
20.
Correction: Genetic data and cognitively defined late-onset Alzheimer's disease subgroups.
Mol Psychiatry;
25(11): 3100, 2020 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30647434