Detalhe da pesquisa
1.
Focused goodness of fit tests for gene set analyses.
Brief Bioinform
; 23(1)2022 01 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34849577
2.
Individuals' experiences in genetic counseling and predictive testing for familial amyotrophic lateral sclerosis.
J Genet Couns
; 2024 Mar 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38477424
3.
High-impact rare genetic variants in severe schizophrenia.
Proc Natl Acad Sci U S A
; 118(51)2021 12 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34903660
4.
The benefit of diagnostic whole genome sequencing in schizophrenia and other psychotic disorders.
Mol Psychiatry
; 27(3): 1435-1447, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34799694
5.
A new approach for rare variation collapsing on functional protein domains implicates specific genic regions in ALS.
Genome Res
; 29(5): 809-818, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30940688
6.
Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.
J Neurol Neurosurg Psychiatry
; 2022 07 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35896379
7.
Incorporating external information to improve sparse signal detection in rare-variant gene-set-based analyses.
Genet Epidemiol
; 44(4): 330-338, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32043633
8.
Effects of mexiletine on hyperexcitability in sporadic amyotrophic lateral sclerosis: Preliminary findings from a small phase II randomized controlled trial.
Muscle Nerve
; 63(3): 371-383, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33340120
9.
Primary lateral sclerosis: consensus diagnostic criteria.
J Neurol Neurosurg Psychiatry
; 91(4): 373-377, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32029539
10.
Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies.
Am J Hum Genet
; 99(3): 607-623, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27588448
11.
Poly-dipeptides encoded by the C9ORF72 repeats block global protein translation.
Hum Mol Genet
; 25(9): 1803-13, 2016 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26931465
12.
Proteomics of rimmed vacuoles define new risk allele in inclusion body myositis.
Ann Neurol
; 81(2): 227-239, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-28009083
13.
MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs.
Ann Neurol
; 79(3): 419-27, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26659848
14.
Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis.
Hum Mol Genet
; 23(19): 5271-82, 2014 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24833718
15.
A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance.
Am J Hum Genet
; 93(5): 976-83, 2013 Nov 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-24207122
16.
Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes.
Ann Neurol
; 77(1): 100-13, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25382069
17.
RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia.
Proc Natl Acad Sci U S A
; 110(51): E4968-77, 2013 Dec 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-24248382
18.
Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration.
Proc Natl Acad Sci U S A
; 110(47): E4530-9, 2013 Nov 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-24170860
19.
Myopathy-causing mutations in an HSP40 chaperone disrupt processing of specific client conformers.
J Biol Chem
; 289(30): 21120-30, 2014 Jul 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-24920671
20.
Hypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier.
Acta Neuropathol
; 129(1): 39-52, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25388784