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.
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
3.
Does genetic anticipation occur in familial Alexander disease?
Neurogenetics
; 22(3): 215-219, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34046764
4.
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
5.
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
6.
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
7.
A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK.
Brain
; 140(6): 1611-1618, 2017 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28430856
8.
Analysis of non-motor symptoms in amyotrophic lateral sclerosis.
Amyotroph Lateral Scler Frontotemporal Degener
; 25(3-4): 237-241, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-37981575
9.
Non-motor symptoms in amyotrophic lateral sclerosis.
Amyotroph Lateral Scler Frontotemporal Degener
; 25(1-2): 61-66, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37798838
10.
C9orf72 Repeat Expansion Discordance in 6 Multigenerational Kindreds.
Neurol Genet
; 10(1): e200112, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38149039
11.
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
12.
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
13.
Non-motor symptoms in amyotrophic lateral sclerosis: lessons from Parkinson's disease.
Amyotroph Lateral Scler Frontotemporal Degener
; : 1-10, 2023 Jun 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37349906
14.
VariantSurvival: a tool to identify genotype-treatment response.
Front Bioinform
; 3: 1277923, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37885757
15.
Comparison Of King's Clinical Staging In Multinational Amyotrophic Lateral Sclerosis Cohorts.
Amyotroph Lateral Scler Frontotemporal Degener
; 24(1-2): 71-81, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-35852375
16.
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
17.
Harnessing the potential of machine learning and artificial intelligence for dementia research.
Brain Inform
; 10(1): 6, 2023 Feb 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-36829050
18.
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
19.
Artificial Intelligence for Dementia Research Methods Optimization.
ArXiv
; 2023 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36911275
20.
Epidemiological and clinical profile of amyotrophic lateral sclerosis in Ethiopia: a 5-year multicenter retrospective study.
Amyotroph Lateral Scler Frontotemporal Degener
; : 1-9, 2023 Jul 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37496277