Detalhe da pesquisa
1.
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
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.
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
4.
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
5.
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
6.
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
7.
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
8.
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
9.
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
10.
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
11.
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
12.
Accumulation of dysfunctional SOD1 protein in Parkinson's disease is not associated with mutations in the SOD1 gene.
Acta Neuropathol
; 135(1): 155-156, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29052003
13.
Pathophysiological insights into ALS with C9ORF72 expansions.
J Neurol Neurosurg Psychiatry
; 84(8): 931-5, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23463871
14.
Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.
J Neuromuscul Dis
; 10(6): 1127-1141, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37638449
15.
Co-deposition of SOD1, TDP-43 and p62 proteinopathies in ALS: evidence for multifaceted pathways underlying neurodegeneration.
Acta Neuropathol Commun
; 10(1): 122, 2022 08 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-36008843
16.
Genetic Analysis of Tryptophan Metabolism Genes in Sporadic Amyotrophic Lateral Sclerosis.
Front Immunol
; 12: 701550, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34194442
17.
Genetic analysis of GLT8D1 and ARPP21 in Australian familial and sporadic amyotrophic lateral sclerosis.
Neurobiol Aging
; 101: 297.e9-297.e11, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33581934
18.
Unbiased Label-Free Quantitative Proteomics of Cells Expressing Amyotrophic Lateral Sclerosis (ALS) Mutations in CCNF Reveals Activation of the Apoptosis Pathway: A Workflow to Screen Pathogenic Gene Mutations.
Front Mol Neurosci
; 14: 627740, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33986643
19.
A Simple Differentiation Protocol for Generation of Induced Pluripotent Stem Cell-Derived Basal Forebrain-Like Cholinergic Neurons for Alzheimer's Disease and Frontotemporal Dementia Disease Modeling.
Cells
; 9(9)2020 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32887382
20.
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