Detalhe da pesquisa
1.
Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies.
Hum Mol Genet
; 32(4): 595-607, 2023 01 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36084042
2.
Tau alternative splicing in familial and sporadic tauopathies.
Biochem Soc Trans
; 40(4): 677-80, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22817715
3.
Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease.
Mol Ther Nucleic Acids
; 21: 412-427, 2020 Sep 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32653833
4.
RNA Misprocessing in C9orf72-Linked Neurodegeneration.
Front Cell Neurosci
; 11: 195, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28744202
5.
Lack of association between TDP-43 pathology and tau mis-splicing in Alzheimer's disease.
Neurobiol Aging
; 37: 45-46, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26507309
6.
Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD.
Acta Neuropathol Commun
; 4: 18, 2016 Feb 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-26916632
7.
Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease.
Neurobiol Aging
; 35(12): 2881.e1-2881.e6, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25104557
8.
Loss of neuronal cell cycle control as a mechanism of neurodegeneration in the presenilin-1 Alzheimer's disease brain.
Cell Cycle
; 7(5): 637-46, 2008 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18239458