Detalhe da pesquisa
1.
Hippocampal aggregation signatures of pathogenic UBQLN2 in amyotrophic lateral sclerosis and frontotemporal dementia.
Brain
; 2024 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38703371
2.
Identity-by-descent analysis of CMTX3 links three families through a common founder.
J Hum Genet
; 68(1): 47-49, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36100665
3.
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
4.
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
5.
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
6.
Identity-by-descent analyses for measuring population dynamics and selection in recombining pathogens.
PLoS Genet
; 14(5): e1007279, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29791438
7.
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
8.
EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO.
Hum Mutat
; 38(4): 409-425, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28055140
9.
XIBD: software for inferring pairwise identity by descent on the X chromosome.
Bioinformatics
; 32(15): 2389-91, 2016 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27153693
10.
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.
Hum Genet
; 135(10): 1117-25, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27368338
11.
Short tandem repeat expansions in LRP12 are absent in cohorts of familial and sporadic amyotrophic lateral sclerosis patients of European ancestry.
Amyotroph Lateral Scler Frontotemporal Degener
; : 1-4, 2024 May 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38726482
12.
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
13.
Short tandem repeat expansions in sporadic amyotrophic lateral sclerosis and frontotemporal dementia.
Sci Adv
; 9(18): eade2044, 2023 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37146135
14.
Clinical testing panels for ALS: global distribution, consistency, and challenges.
Amyotroph Lateral Scler Frontotemporal Degener
; 24(5-6): 420-435, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36896705
15.
Simultaneous Isolation of High-Quality RNA and DNA From Postmortem Human Central Nervous System Tissues for Omics Studies.
J Neuropathol Exp Neurol
; 81(2): 135-145, 2022 01 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34939123
16.
NEK1 and STMN2 short tandem repeat lengths are not associated with Australian amyotrophic lateral sclerosis risk.
Neurobiol Aging
; 116: 92-95, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35613520
17.
The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration.
Nat Commun
; 13(1): 6901, 2022 11 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36371497
18.
Effects of stress associated with academic examination on the kynurenine pathway profile in healthy students.
PLoS One
; 16(6): e0252668, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34081742
19.
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
20.
Identity by descent analysis identifies founder events and links SOD1 familial and sporadic ALS cases.
NPJ Genom Med
; 5: 32, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32789025