Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

23 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
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.
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.
Clinical testing panels for ALS: global distribution, consistency, and challenges.
Dilliott AA, Al Nasser A, Elnagheeb M, Fifita J, Henden L, Keseler IM, Lenz S, Marriott H, Mccann E, Mesaros M, Opie-Martin S, Owens E, Palus B, Ross J, Wang Z, White H, Al-Chalabi A, Andersen PM, Benatar M, Blair I, Cooper-Knock J, Harrington EA, Heckmann J, Landers J, Moreno C, Nel M, Rampersaud E, Roggenbuck J, Rouleau G, Traynor B, Van Blitterswijk M, Van Rheenen W, Veldink J, Weishaupt J, Drury L, Harms MB, Farhan SMK; Amyotrophic lateral sclerosis spectrum disorders Gene Curation Expert Panel. Dilliott AA, et al. Among authors: henden l. Amyotroph Lateral Scler Frontotemporal Degener. 2023 Aug;24(5-6):420-435. doi: 10.1080/21678421.2023.2173015. Epub 2023 Mar 10. Amyotroph Lateral Scler Frontotemporal Degener. 2023. PMID: 36896705 Review.
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 …
Short tandem repeat expansions in LRP12 are absent in cohorts of familial and sporadic amyotrophic lateral sclerosis patients of European ancestry.
Henden L, Fearnley LG, Southwood D, Smith A, Rowe DB, Kiernan MC, Pamphlett R, Bahlo M, Blair IP, Williams KL. Henden L, et al. Amyotroph Lateral Scler Frontotemporal Degener. 2024 May 10:1-4. doi: 10.1080/21678421.2024.2348636. Online ahead of print. Amyotroph Lateral Scler Frontotemporal Degener. 2024. PMID: 38726482
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
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.
23 results