Detalhe da pesquisa
1.
ALS-linked CCNF variant disrupts motor neuron ubiquitin homeostasis.
Hum Mol Genet
; 32(14): 2386-2398, 2023 07 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37220877
2.
RNA sequencing of peripheral blood in amyotrophic lateral sclerosis reveals distinct molecular subtypes: Considerations for biomarker discovery.
Neuropathol Appl Neurobiol
; 49(6): e12943, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37818590
3.
Altered SOD1 maturation and post-translational modification in amyotrophic lateral sclerosis spinal cord.
Brain
; 145(9): 3108-3130, 2022 09 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35512359
4.
TDP-43 is a ubiquitylation substrate of the SCFcyclin F complex.
Neurobiol Dis
; 167: 105673, 2022 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35231559
5.
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
6.
CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis.
Brain
; 143(3): 783-799, 2020 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32185393
7.
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
8.
ERp57 is protective against mutant SOD1-induced cellular pathology in amyotrophic lateral sclerosis.
Hum Mol Genet
; 27(8): 1311-1331, 2018 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29409023
9.
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
10.
Expression of ALS/FTD-linked mutant CCNF in zebrafish leads to increased cell death in the spinal cord and an aberrant motor phenotype.
Hum Mol Genet
; 26(14): 2616-2626, 2017 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28444311
11.
Pathogenic mutation in the ALS/FTD gene, CCNF, causes elevated Lys48-linked ubiquitylation and defective autophagy.
Cell Mol Life Sci
; 75(2): 335-354, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28852778
12.
Corrigendum to: Ataxin-2 interacts with FUS and intermediate-length polyglutamine expansions enhance FUS-related pathology in amyotrophic lateral sclerosis.
Hum Mol Genet
; 29(4): 703-704, 2020 03 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-31961434
13.
Defects in optineurin- and myosin VI-mediated cellular trafficking in amyotrophic lateral sclerosis.
Hum Mol Genet
; 24(13): 3830-46, 2015 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25859013
14.
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
15.
C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking.
Hum Mol Genet
; 23(13): 3579-95, 2014 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24549040
16.
Expression of ALS/FTD-linked mutant CCNF in zebrafish leads to increased cell death in the spinal cord and an aberrant motor phenotype.
Hum Mol Genet
; 28(4): 698, 2019 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30371781
17.
ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19.
Am J Hum Genet
; 93(5): 900-5, 2013 Nov 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-24119685
18.
Ataxin-2 interacts with FUS and intermediate-length polyglutamine expansions enhance FUS-related pathology in amyotrophic lateral sclerosis.
Hum Mol Genet
; 22(4): 717-28, 2013 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23172909
19.
C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking.
Hum Mol Genet
; 26(20): 4093-4094, 2017 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28973528
20.
Defects in optineurin- and myosin VI-mediated cellular trafficking in amyotrophic lateral sclerosis.
Hum Mol Genet
; 26(17): 3452, 2017 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28854706