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Page 1
The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration.
Opie-Martin S, Iacoangeli A, Topp SD, Abel O, Mayl K, Mehta PR, Shatunov A, Fogh I, Bowles H, Limbachiya N, Spargo TP, Al-Khleifat A, Williams KL, Jockel-Balsarotti J, Bali T, Self W, Henden L, Nicholson GA, Ticozzi N, McKenna-Yasek D, Tang L, Shaw PJ, Chio A, Ludolph A, Weishaupt JH, Landers JE, Glass JD, Mora JS, Robberecht W, Damme PV, McLaughlin R, Hardiman O, van den Berg L, Veldink JH, Corcia P, Stevic Z, Siddique N, Silani V, Blair IP, Fan DS, Esselin F, de la Cruz E, Camu W, Basak NA, Siddique T, Miller T, Brown RH, Al-Chalabi A, Shaw CE. Opie-Martin S, et al. Among authors: henden l. Nat Commun. 2022 Nov 12;13(1):6901. doi: 10.1038/s41467-022-34620-y. Nat Commun. 2022. PMID: 36371497 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 …
EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO.
Skopkova M, Hennig F, Shin BS, Turner CE, Stanikova D, Brennerova K, Stanik J, Fischer U, Henden L, Müller U, Steinberger D, Leshinsky-Silver E, Bottani A, Kurdiova T, Ukropec J, Nyitrayova O, Kolnikova M, Klimes I, Borck G, Bahlo M, Haas SA, Kim JR, Lotspeich-Cole LE, Gasperikova D, Dever TE, Kalscheuer VM. Skopkova M, et al. Among authors: henden l. Hum Mutat. 2017 Apr;38(4):409-425. doi: 10.1002/humu.23170. Epub 2017 Jan 23. Hum Mutat. 2017. PMID: 28055140 Free PMC article.
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.
Henden L, Freytag S, Afawi Z, Baldassari S, Berkovic SF, Bisulli F, Canafoglia L, Casari G, Crompton DE, Depienne C, Gecz J, Guerrini R, Helbig I, Hirsch E, Keren B, Klein KM, Labauge P, LeGuern E, Licchetta L, Mei D, Nava C, Pippucci T, Rudolf G, Scheffer IE, Striano P, Tinuper P, Zara F, Corbett M, Bahlo M. Henden L, et al. Hum Genet. 2016 Oct;135(10):1117-25. doi: 10.1007/s00439-016-1700-8. Epub 2016 Jul 1. Hum Genet. 2016. PMID: 27368338
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
24 results