Detalhe da pesquisa
1.
Compound heterozygous splicing variants expand the genotypic spectrum of EMC1-related disorders.
Clin Genet
; 103(5): 553-559, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36799557
2.
Splicing factor proline and glutamine rich intron retention, reduced expression and aggregate formation are pathological features of amyotrophic lateral sclerosis.
Neuropathol Appl Neurobiol
; 47(7): 990-1003, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34288034
3.
Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis.
J Med Genet
; 2020 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-32409511
4.
Genetic and immunopathological analysis of CHCHD10 in Australian amyotrophic lateral sclerosis and frontotemporal dementia and transgenic TDP-43 mice.
J Neurol Neurosurg Psychiatry
; 91(2): 162-171, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31690696
5.
Phosphorylation of hnRNP K by cyclin-dependent kinase 2 controls cytosolic accumulation of TDP-43.
Hum Mol Genet
; 24(6): 1655-69, 2015 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25410660
6.
Genetic and Pathological Assessment of hnRNPA1, hnRNPA2/B1, and hnRNPA3 in Familial and Sporadic Amyotrophic Lateral Sclerosis.
Neurodegener Dis
; 17(6): 304-312, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29131108
7.
Refining clinically relevant parameters for mis-splicing risk in shortened introns with donor-to-branchpoint space constraint.
Eur J Hum Genet
; 2024 May 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38802528
8.
Prevalence, parameters, and pathogenic mechanisms for splice-altering acceptor variants that disrupt the AG exclusion zone.
HGG Adv
; 3(4): 100125, 2022 Oct 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35847480
9.
The C9orf72 hexanucleotide repeat expansion presents a challenge for testing laboratories and genetic counseling.
Amyotroph Lateral Scler Frontotemporal Degener
; 20(5-6): 310-316, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30907153
10.
Monozygotic twins and triplets discordant for amyotrophic lateral sclerosis display differential methylation and gene expression.
Sci Rep
; 9(1): 8254, 2019 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31164693
11.
Postnatal Development of Spasticity Following Transgene Insertion in the Mouse ßIV Spectrin Gene (SPTBN4).
J Neuromuscul Dis
; 4(2): 159-164, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28582869
12.
Casein kinase II phosphorylation of cyclin F at serine 621 regulates the Lys48-ubiquitylation E3 ligase activity of the SCF(cyclin F) complex.
Open Biol
; 7(10)2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29021214
13.
CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia.
Nat Commun
; 7: 11253, 2016 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27080313
14.
Evaluation of Skin Fibroblasts from Amyotrophic Lateral Sclerosis Patients for the Rapid Study of Pathological Features.
Neurotox Res
; 28(2): 138-46, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26013250
15.
Novel TBK1 truncating mutation in a familial amyotrophic lateral sclerosis patient of Chinese origin.
Neurobiol Aging
; 36(12): 3334.e1-3334.e5, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26350399
16.
Ubiquilin 2: a component of the ubiquitin-proteasome system with an emerging role in neurodegeneration.
Int J Biochem Cell Biol
; 50: 123-6, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24589709