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.
Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries.
Circ Res
; 130(2): 166-180, 2022 01 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34886679
3.
Cost-effectiveness of acceptance and commitment therapy for people living with motor neuron disease, and their health-related quality of life.
Eur J Neurol
; : e16317, 2024 Apr 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38660985
4.
European Academy of Neurology (EAN) guideline on the management of amyotrophic lateral sclerosis in collaboration with European Reference Network for Neuromuscular Diseases (ERN EURO-NMD).
Eur J Neurol
; : e16264, 2024 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38470068
5.
Genetic variability in sporadic amyotrophic lateral sclerosis.
Brain
; 146(9): 3760-3769, 2023 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37043475
6.
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
7.
The contribution of Neanderthal introgression and natural selection to neurodegenerative diseases.
Neurobiol Dis
; 180: 106082, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36925053
8.
UNC13A in amyotrophic lateral sclerosis: from genetic association to therapeutic target.
J Neurol Neurosurg Psychiatry
; 94(8): 649-656, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36737245
9.
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
10.
Preventing amyotrophic lateral sclerosis: insights from pre-symptomatic neurodegenerative diseases.
Brain
; 145(1): 27-44, 2022 03 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34677606
11.
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
12.
The Effect of SMN Gene Dosage on ALS Risk and Disease Severity.
Ann Neurol
; 89(4): 686-697, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33389754
13.
A randomised controlled trial of acceptance and commitment therapy plus usual care compared to usual care alone for improving psychological health in people with motor neuron disease (COMMEND): study protocol.
BMC Neurol
; 22(1): 431, 2022 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36380299
14.
Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome.
Circulation
; 142(4): 324-338, 2020 07 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-32429735
15.
Does genetic anticipation occur in familial Alexander disease?
Neurogenetics
; 22(3): 215-219, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34046764
16.
Clinical staging in amyotrophic lateral sclerosis: analysis of Edaravone Study 19.
J Neurol Neurosurg Psychiatry
; 92(2): 165-171, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33109706
17.
Elongator subunit 3 (ELP3) modifies ALS through tRNA modification.
Hum Mol Genet
; 27(7): 1276-1289, 2018 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29415125
18.
Detection of long repeat expansions from PCR-free whole-genome sequence data.
Genome Res
; 27(11): 1895-1903, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28887402
19.
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
20.
Relative preservation of triceps over biceps strength in upper limb-onset ALS: the 'split elbow'.
J Neurol Neurosurg Psychiatry
; 90(7): 730-733, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30846542