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

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1997 2
2000 1
2001 3
2002 1
2003 5
2004 3
2005 1
2006 3
2007 5
2008 3
2009 3
2010 1
2011 1
2012 10
2013 10
2014 13
2015 16
2016 22
2017 16
2018 17
2019 20
2020 15
2021 10
2022 13
2023 9
2024 8

Text availability

Article attribute

Article type

Publication date

Search Results

181 results

Results by year

Filters applied: . Clear all
Page 1
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.
Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, Van der Spek RA, Pliner HA, Shankaracharya, Smith BN, Marangi G, Topp SD, Abramzon Y, Gkazi AS, Eicher JD, Kenna A; ITALSGEN Consortium; Mora G, Calvo A, Mazzini L, Riva N, Mandrioli J, Caponnetto C, Battistini S, Volanti P, La Bella V, Conforti FL, Borghero G, Messina S, Simone IL, Trojsi F, Salvi F, Logullo FO, D'Alfonso S, Corrado L, Capasso M, Ferrucci L; Genomic Translation for ALS Care (GTAC) Consortium; Moreno CAM, Kamalakaran S, Goldstein DB; ALS Sequencing Consortium; Gitler AD, Harris T, Myers RM; NYGC ALS Consortium; Phatnani H, Musunuri RL, Evani US, Abhyankar A, Zody MC; Answer ALS Foundation; Kaye J, Finkbeiner S, Wyman SK, LeNail A, Lima L, Fraenkel E, Svendsen CN, Thompson LM, Van Eyk JE, Berry JD, Miller TM, Kolb SJ, Cudkowicz M, Baxi E; Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium; Benatar M, Taylor JP, Rampersaud E, Wu G, Wuu J; SLAGEN Consortium; Lauria G, Verde F, Fogh I, Tiloca C, Comi GP, Sorarù G, Cereda C; French ALS Consortium; Corcia P, Laaks… See abstract for full author list ➔ Nicolas A, et al. Among authors: weishaupt jh. Neuron. 2018 Mar 21;97(6):1267-1288. doi: 10.1016/j.neuron.2018.02.027. Neuron. 2018. PMID: 29566793 Free PMC article.
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.
van Rheenen W, van der Spek RAA, Bakker MK, van Vugt JJFA, Hop PJ, Zwamborn RAJ, de Klein N, Westra HJ, Bakker OB, Deelen P, Shireby G, Hannon E, Moisse M, Baird D, Restuadi R, Dolzhenko E, Dekker AM, Gawor K, Westeneng HJ, Tazelaar GHP, van Eijk KR, Kooyman M, Byrne RP, Doherty M, Heverin M, Al Khleifat A, Iacoangeli A, Shatunov A, Ticozzi N, Cooper-Knock J, Smith BN, Gromicho M, Chandran S, Pal S, Morrison KE, Shaw PJ, Hardy J, Orrell RW, Sendtner M, Meyer T, Başak N, van der Kooi AJ, Ratti A, Fogh I, Gellera C, Lauria G, Corti S, Cereda C, Sproviero D, D'Alfonso S, Sorarù G, Siciliano G, Filosto M, Padovani A, Chiò A, Calvo A, Moglia C, Brunetti M, Canosa A, Grassano M, Beghi E, Pupillo E, Logroscino G, Nefussy B, Osmanovic A, Nordin A, Lerner Y, Zabari M, Gotkine M, Baloh RH, Bell S, Vourc'h P, Corcia P, Couratier P, Millecamps S, Meininger V, Salachas F, Mora Pardina JS, Assialioui A, Rojas-García R, Dion PA, Ross JP, Ludolph AC, Weishaupt JH, Brenner D, Freischmidt A, Bensimon G, Brice A, Durr A, Payan CAM, Saker-Delye S, Wood NW, Topp S, Rademakers R, Tittmann L, Lieb W, Franke A, Ripke S, Braun A, Kraft J, Whiteman DC, Olsen CM, Uitterlinden AG, Hofman A, Rietschel … See abstract for full author list ➔ van Rheenen W, et al. Among authors: weishaupt jh. Nat Genet. 2021 Dec;53(12):1636-1648. doi: 10.1038/s41588-021-00973-1. Epub 2021 Dec 6. Nat Genet. 2021. PMID: 34873335 Free PMC article.
Sumoylation fights "aggregopathies".
Krumova P, Weishaupt JH. Krumova P, et al. Among authors: weishaupt jh. Cell Cycle. 2012 Feb 15;11(4):641-2. doi: 10.4161/cc.11.4.19356. Cell Cycle. 2012. PMID: 22374664 No abstract available.
Neurofilament light-chain response during therapy with antisense oligonucleotide tofersen in SOD1-related ALS: Treatment experience in clinical practice.
Meyer T, Schumann P, Weydt P, Petri S, Koc Y, Spittel S, Bernsen S, Günther R, Weishaupt JH, Dreger M, Kolzarek F, Kettemann D, Norden J, Boentert M, Vidovic M, Meisel C, Münch C, Maier A, Körtvélyessy P. Meyer T, et al. Among authors: weishaupt jh. Muscle Nerve. 2023 Jun;67(6):515-521. doi: 10.1002/mus.27818. Epub 2023 Apr 3. Muscle Nerve. 2023. PMID: 36928619
Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies.
Auer-Grumbach M, Toegel S, Schabhüttl M, Weinmann D, Chiari C, Bennett DLH, Beetz C, Klein D, Andersen PM, Böhme I, Fink-Puches R, Gonzalez M, Harms MB, Motley W, Reilly MM, Renner W, Rudnik-Schöneborn S, Schlotter-Weigel B, Themistocleous AC, Weishaupt JH, Ludolph AC, Wieland T, Tao F, Abreu L, Windhager R, Zitzelsberger M, Strom TM, Walther T, Scherer SS, Züchner S, Martini R, Senderek J. Auer-Grumbach M, et al. Among authors: weishaupt jh. Am J Hum Genet. 2016 Sep 1;99(3):607-623. doi: 10.1016/j.ajhg.2016.07.008. Am J Hum Genet. 2016. PMID: 27588448 Free PMC article.
Amyotrophic lateral sclerosis.
Ludolph AC, Brettschneider J, Weishaupt JH. Ludolph AC, et al. Among authors: weishaupt jh. Curr Opin Neurol. 2012 Oct;25(5):530-5. doi: 10.1097/WCO.0b013e328356d328. Curr Opin Neurol. 2012. PMID: 22918486 Free article. Review.
Update on amyotrophic lateral sclerosis genetics.
Brenner D, Weishaupt JH. Brenner D, et al. Among authors: weishaupt jh. Curr Opin Neurol. 2019 Oct;32(5):735-739. doi: 10.1097/WCO.0000000000000737. Curr Opin Neurol. 2019. PMID: 31335339 Review.
ALS-linked KIF5A ΔExon27 mutant causes neuronal toxicity through gain-of-function.
Pant DC, Parameswaran J, Rao L, Loss I, Chilukuri G, Parlato R, Shi L, Glass JD, Bassell GJ, Koch P, Yilmaz R, Weishaupt JH, Gennerich A, Jiang J. Pant DC, et al. Among authors: weishaupt jh. EMBO Rep. 2022 Aug 3;23(8):e54234. doi: 10.15252/embr.202154234. Epub 2022 Jun 23. EMBO Rep. 2022. PMID: 35735139 Free PMC article.
Low T-cell reactivity to TDP-43 peptides in ALS.
Ramachandran S, Grozdanov V, Leins B, Kandler K, Witzel S, Mulaw M, Ludolph AC, Weishaupt JH, Danzer KM. Ramachandran S, et al. Among authors: weishaupt jh. Front Immunol. 2023 Jul 21;14:1193507. doi: 10.3389/fimmu.2023.1193507. eCollection 2023. Front Immunol. 2023. PMID: 37545536 Free PMC article.
Spectrum and frequency of genetic variants in sporadic amyotrophic lateral sclerosis.
Ruf WP, Boros M, Freischmidt A, Brenner D, Grozdanov V, de Meirelles J, Meyer T, Grehl T, Petri S, Grosskreutz J, Weyen U, Guenther R, Regensburger M, Hagenacker T, Koch JC, Emmer A, Roediger A, Steinbach R, Wolf J, Weishaupt JH, Lingor P, Deschauer M, Cordts I, Klopstock T, Reilich P, Schoeberl F, Schrank B, Zeller D, Hermann A, Knehr A, Günther K, Dorst J, Schuster J, Siebert R, Ludolph AC, Müller K. Ruf WP, et al. Among authors: weishaupt jh. Brain Commun. 2023 May 9;5(3):fcad152. doi: 10.1093/braincomms/fcad152. eCollection 2023. Brain Commun. 2023. PMID: 37223130 Free PMC article.
181 results