Detalhe da pesquisa
1.
DNAscan2: a versatile, scalable, and user-friendly analysis pipeline for human next-generation sequencing data.
Bioinformatics
; 39(4)2023 04 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37010501
2.
GEOexplorer: a webserver for gene expression analysis and visualisation.
Nucleic Acids Res
; 50(W1): W367-W374, 2022 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35609980
3.
The impact of age on genetic testing decisions in amyotrophic lateral sclerosis.
Brain
; 145(12): 4440-4447, 2022 12 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36162820
4.
DGLinker: flexible knowledge-graph prediction of disease-gene associations.
Nucleic Acids Res
; 49(W1): W153-W161, 2021 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34125897
5.
Advances in the genetic classification of amyotrophic lateral sclerosis.
Curr Opin Neurol
; 34(5): 756-764, 2021 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34343141
6.
Relationship between smoking and ALS: Mendelian randomisation interrogation of causality.
J Neurol Neurosurg Psychiatry
; 91(12): 1312-1315, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32848012
7.
Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias.
J Neurol Neurosurg Psychiatry
; 90(3): 268-271, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30270202
8.
PepComposer: computational design of peptides binding to a given protein surface.
Nucleic Acids Res
; 44(W1): W522-8, 2016 07 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27131789
9.
Rare and common genetic determinants of mitochondrial function determine severity but not risk of amyotrophic lateral sclerosis.
Heliyon
; 10(3): e24975, 2024 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38317984
10.
Mutations in the tail and rod domains of the neurofilament heavy-chain gene increase the risk of ALS.
Ann Clin Transl Neurol
; 2024 May 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38775181
11.
VariantSurvival: a tool to identify genotype-treatment response.
Front Bioinform
; 3: 1277923, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37885757
12.
Harnessing Transcriptomic Signals for Amyotrophic Lateral Sclerosis to Identify Novel Drugs and Enhance Risk Prediction.
medRxiv
; 2023 Jan 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-36747854
13.
SOD1-ALS-Browser: a web-utility for investigating the clinical phenotype in SOD1 amyotrophic lateral sclerosis.
Amyotroph Lateral Scler Frontotemporal Degener
; : 1-10, 2023 Aug 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37534756
14.
Unsupervised machine learning identifies distinct ALS molecular subtypes in post-mortem motor cortex and blood expression data.
Acta Neuropathol Commun
; 11(1): 208, 2023 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38129934
15.
Molecular dynamics analysis of superoxide dismutase 1 mutations suggests decoupling between mechanisms underlying ALS onset and progression.
Comput Struct Biotechnol J
; 21: 5296-5308, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37954145
16.
Co-targeting HSP90 alpha and CDK7 overcomes resistance against HSP90 inhibitors in BCR-ABL1+ leukemia cells.
Cell Death Dis
; 14(12): 799, 2023 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38057328
17.
Large-scale analyses of CAV1 and CAV2 suggest their expression is higher in post-mortem ALS brain tissue and affects survival.
Front Cell Neurosci
; 17: 1112405, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36937187
18.
Amyotrophic lateral sclerosis and cerebellum.
Sci Rep
; 12(1): 12586, 2022 07 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-35869263
19.
Calculating variant penetrance from family history of disease and average family size in population-scale data.
Genome Med
; 14(1): 141, 2022 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36522764
20.
RetroSnake: A modular pipeline to detect human endogenous retroviruses in genome sequencing data.
iScience
; 25(11): 105289, 2022 Nov 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-36339261