Detalhe da pesquisa
1.
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
2.
Genetic variability in sporadic amyotrophic lateral sclerosis.
Brain
; 146(9): 3760-3769, 2023 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37043475
3.
The contribution of Neanderthal introgression and natural selection to neurodegenerative diseases.
Neurobiol Dis
; 180: 106082, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36925053
4.
Risdiplam for the treatment of adults with spinal muscular atrophy: Experience of the Northern Ireland neuromuscular service.
Muscle Nerve
; 67(2): 157-161, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36382958
5.
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
6.
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
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.
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
9.
A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis.
Hum Mol Genet
; 23(8): 2220-31, 2014 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24256812
10.
C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis.
Ann Neurol
; 76(1): 120-33, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24931836
11.
The role of TREM2 R47H as a risk factor for Alzheimer's disease, frontotemporal lobar degeneration, amyotrophic lateral sclerosis, and Parkinson's disease.
Alzheimers Dement
; 11(12): 1407-1416, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25936935
12.
ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis.
Nat Genet
; 38(4): 411-3, 2006 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-16501576
13.
Alpha-synuclein repeat variants and survival in Parkinson's disease.
Mov Disord
; 29(8): 1053-7, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24578302
14.
Using participatory epidemiology to assess factors contributing to common enteric pathogens in Ontario: results from a workshop held at the Ontario Veterinary College, University of Guelph, Ontario.
BMC Public Health
; 14: 405, 2014 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-24767430
15.
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
16.
Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21.
Hum Mol Genet
; 20(2): 345-53, 2011 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21044948
17.
A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants.
J Med Genet
; 49(11): 721-6, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23125461
18.
VEGF is a modifier of amyotrophic lateral sclerosis in mice and humans and protects motoneurons against ischemic death.
Nat Genet
; 34(4): 383-94, 2003 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-12847526
19.
Serum Neurofilaments in Motor Neuron Disease and Their Utility in Differentiating ALS, PMA and PLS.
Life (Basel)
; 13(6)2023 May 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-37374084
20.
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