Detalhe da pesquisa
1.
Amyotrophic lateral sclerosis: translating genetic discoveries into therapies.
Nat Rev Genet
; 24(9): 642-658, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37024676
2.
Scalable Nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylation.
Nat Methods
; 20(10): 1483-1492, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37710018
3.
Identification of genetic risk loci and prioritization of genes and pathways for myasthenia gravis: a genome-wide association study.
Proc Natl Acad Sci U S A
; 119(5)2022 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35074870
4.
Genome-Wide Analysis of Structural Variants in Parkinson Disease.
Ann Neurol
; 93(5): 1012-1022, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36695634
5.
Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population.
Brain
; 146(7): 2723-2729, 2023 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36797998
6.
Large-scale rare variant burden testing in Parkinson's disease.
Brain
; 146(11): 4622-4632, 2023 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37348876
7.
ATXN2 intermediate expansions in amyotrophic lateral sclerosis.
Brain
; 145(8): 2671-2676, 2022 08 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35521889
8.
Defective cyclophilin A induces TDP-43 proteinopathy: implications for amyotrophic lateral sclerosis and frontotemporal dementia.
Brain
; 144(12): 3710-3726, 2021 12 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-34972208
9.
Nuclear depletion of RNA-binding protein ELAVL3 (HuC) in sporadic and familial amyotrophic lateral sclerosis.
Acta Neuropathol
; 142(6): 985-1001, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34618203
10.
Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly.
J Med Genet
; 57(4): 274-282, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31586943
11.
Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis.
Ann Neurol
; 85(4): 470-481, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30723964
12.
The NGS technology for the identification of genes associated with the ALS. A systematic review.
Eur J Clin Invest
; 50(5): e13228, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32293029
13.
Reply to Zhu et al.: Implications of CHRNB1 and ERBB2 in the pathobiology of myasthenia gravis.
Proc Natl Acad Sci U S A
; 119(36): e2209096119, 2022 09 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35969799
14.
C9ORF72 hexanucleotide repeat exerts toxicity in a stable, inducible motor neuronal cell model, which is rescued by partial depletion of Pten.
Hum Mol Genet
; 26(6): 1133-1145, 2017 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28158451
15.
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS.
Nature
; 495(7442): 467-73, 2013 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-23455423
16.
Reply: More than a co-incidence? Exploring the increased frequency of amyotrophic lateral sclerosis in Huntington disease.
Acta Neuropathol
; 145(2): 259-261, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36542109
17.
Common polymorphisms of chemokine (C-X3-C motif) receptor 1 gene modify amyotrophic lateral sclerosis outcome: A population-based study.
Muscle Nerve
; 57(2): 212-216, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28342179
18.
The Neurogenetics Collection: emerging themes and future considerations for the field in Brain.
Brain
; 145(5): e31-e35, 2022 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35403674
19.
Amyotrophic lateral sclerosis is over-represented in two Huntington's disease brain bank cohorts: further evidence to support genetic pleiotropy of pathogenic HTT gene expansion.
Acta Neuropathol
; 143(1): 105-108, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34800149
20.
CAG Somatic Instability in a Huntington Disease Expansion Carrier Presenting with a Progressive Supranuclear Palsy-like Phenotype.
Mov Disord
; 37(7): 1555-1557, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35510647