Detalhe da pesquisa
1.
Genetic correlations of polygenic disease traits: from theory to practice.
Nat Rev Genet;
20(10): 567-581, 2019 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31171865
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.
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
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.
Autoantibody pathogenicity in a multifocal motor neuropathy induced pluripotent stem cell-derived model.
Ann Neurol;
80(1): 71-88, 2016 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27130524
7.
Serotonin 2B receptor slows disease progression and prevents degeneration of spinal cord mononuclear phagocytes in amyotrophic lateral sclerosis.
Acta Neuropathol;
131(3): 465-80, 2016 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26744351
8.
Distinctive pattern of temporal atrophy in patients with frontotemporal dementia and the I383V variant in TARDBP.
J Neurol Neurosurg Psychiatry;
92(7): 787-789, 2021 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33452055
9.
A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories.
J Med Genet;
51(6): 419-24, 2014 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24706941
10.
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
11.
Evidence for an oligogenic basis of amyotrophic lateral sclerosis.
Hum Mol Genet;
21(17): 3776-84, 2012 Sep 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22645277
12.
NIPA1 polyalanine repeat expansions are associated with amyotrophic lateral sclerosis.
Hum Mol Genet;
21(11): 2497-502, 2012 Jun 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22378146
13.
Assessment of risk of ALS conferred by the GGGGCC hexanucleotide repeat expansion in C9orf72 among first-degree relatives of patients with ALS carrying the repeat expansion.
Amyotroph Lateral Scler Frontotemporal Degener;
25(1-2): 188-196, 2024 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37861203
14.
Association Between Serum Lipids and Survival in Patients With Amyotrophic Lateral Sclerosis: A Meta-analysis and Population-Based Study.
Neurology;
100(10): e1062-e1071, 2023 03 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36460467
15.
Brain expression quantitative trait locus and network analyses reveal downstream effects and putative drivers for brain-related diseases.
Nat Genet;
55(3): 377-388, 2023 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36823318
16.
Whole genome sequencing analysis reveals post-zygotic mutation variability in monozygotic twins discordant for amyotrophic lateral sclerosis.
Neurobiol Aging;
122: 76-87, 2023 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36521271
17.
Clinical testing panels for ALS: global distribution, consistency, and challenges.
Amyotroph Lateral Scler Frontotemporal Degener;
24(5-6): 420-435, 2023 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36896705
18.
A large genome scan for rare CNVs in amyotrophic lateral sclerosis.
Hum Mol Genet;
19(20): 4091-9, 2010 Oct 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20685689
19.
Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis.
Ann Neurol;
70(6): 964-73, 2011 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22190368
20.
Distal spinal muscular atrophy featured by predominant calf muscle involvement in VRK1 associated disease - Case series and review.
Neuromuscul Disord;
32(6): 527-532, 2022 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35641352