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Short tandem repeat expansions in sporadic amyotrophic lateral sclerosis and frontotemporal dementia.
Henden L, Fearnley LG, Grima N, McCann EP, Dobson-Stone C, Fitzpatrick L, Friend K, Hobson L, Chan Moi Fat S, Rowe DB, D'Silva S, Kwok JB, Halliday GM, Kiernan MC, Mazumder S, Timmins HC, Zoing M, Pamphlett R, Adams L, Bahlo M, Blair IP, Williams KL. Henden L, et al. Sci Adv. 2023 May 5;9(18):eade2044. doi: 10.1126/sciadv.ade2044. Epub 2023 May 5. Sci Adv. 2023. PMID: 37146135 Free PMC article.
XIBD: software for inferring pairwise identity by descent on the X chromosome.
Henden L, Wakeham D, Bahlo M. Henden L, et al. Bioinformatics. 2016 Aug 1;32(15):2389-91. doi: 10.1093/bioinformatics/btw124. Epub 2016 Mar 21. Bioinformatics. 2016. PMID: 27153693
AVAILABILITY AND IMPLEMENTATION: XIBD is written in R/Rcpp and executed from shell scripts that are freely available from http://bioinf.wehi.edu.au/software/XIBD along with accompanying reference datasets. CONTACT: henden.l@wehi.edu.au SUPPLEMENTARY INFORMATION: Sup …
AVAILABILITY AND IMPLEMENTATION: XIBD is written in R/Rcpp and executed from shell scripts that are freely available from http://bioinf.wehi …
Genetic and immunopathological analysis of CHCHD10 in Australian amyotrophic lateral sclerosis and frontotemporal dementia and transgenic TDP-43 mice.
McCann EP, Fifita JA, Grima N, Galper J, Mehta P, Freckleton SE, Zhang KY, Henden L, Hogan AL, Chan Moi Fat S, Wu SS, Jagaraj CJ, Berning BA, Williams KL, Twine NA, Bauer D, Piguet O, Hodges J, Kwok JBJ, Halliday GM, Kiernan MC, Atkin J, Rowe DB, Nicholson GA, Walker AK, Blair IP, Yang S. McCann EP, et al. Among authors: henden l. J Neurol Neurosurg Psychiatry. 2020 Feb;91(2):162-171. doi: 10.1136/jnnp-2019-321790. Epub 2019 Nov 5. J Neurol Neurosurg Psychiatry. 2020. PMID: 31690696
Splicing factor proline and glutamine rich intron retention, reduced expression and aggregate formation are pathological features of amyotrophic lateral sclerosis.
Hogan AL, Grima N, Fifita JA, McCann EP, Heng B, Fat SCM, Wu S, Maharjan R, Cain AK, Henden L, Rayner S, Tarr I, Zhang KY, Zhao Q, Zhang ZH, Wright A, Lee A, Morsch M, Yang S, Williams KL, Blair IP. Hogan AL, et al. Among authors: henden l. Neuropathol Appl Neurobiol. 2021 Dec;47(7):990-1003. doi: 10.1111/nan.12749. Epub 2021 Aug 2. Neuropathol Appl Neurobiol. 2021. PMID: 34288034
23 results