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Year Number of Results
1957 1
1960 1
1971 1
1973 1
1977 3
1978 4
1979 2
1980 4
1981 1
1984 1
1985 1
1986 1
1987 1
1989 2
1991 1
1993 4
1994 2
1996 5
1997 3
1998 3
1999 3
2000 2
2001 2
2002 2
2003 1
2004 1
2005 4
2006 4
2007 7
2008 7
2009 9
2010 6
2011 8
2012 12
2013 9
2014 9
2015 16
2016 12
2017 2
2018 9
2019 16
2020 15
2021 19
2022 13
2023 15
2024 9

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223 results

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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… See abstract for full author list ➔ Nicolas A, et al. Among authors: simone il. Neuron. 2018 Mar 21;97(6):1267-1288. doi: 10.1016/j.neuron.2018.02.027. Neuron. 2018. PMID: 29566793 Free PMC article.
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.
Renton AE, Majounie E, Waite A, Simón-Sánchez J, Rollinson S, Gibbs JR, Schymick JC, Laaksovirta H, van Swieten JC, Myllykangas L, Kalimo H, Paetau A, Abramzon Y, Remes AM, Kaganovich A, Scholz SW, Duckworth J, Ding J, Harmer DW, Hernandez DG, Johnson JO, Mok K, Ryten M, Trabzuni D, Guerreiro RJ, Orrell RW, Neal J, Murray A, Pearson J, Jansen IE, Sondervan D, Seelaar H, Blake D, Young K, Halliwell N, Callister JB, Toulson G, Richardson A, Gerhard A, Snowden J, Mann D, Neary D, Nalls MA, Peuralinna T, Jansson L, Isoviita VM, Kaivorinne AL, Hölttä-Vuori M, Ikonen E, Sulkava R, Benatar M, Wuu J, Chiò A, Restagno G, Borghero G, Sabatelli M; ITALSGEN Consortium; Heckerman D, Rogaeva E, Zinman L, Rothstein JD, Sendtner M, Drepper C, Eichler EE, Alkan C, Abdullaev Z, Pack SD, Dutra A, Pak E, Hardy J, Singleton A, Williams NM, Heutink P, Pickering-Brown S, Morris HR, Tienari PJ, Traynor BJ. Renton AE, et al. Neuron. 2011 Oct 20;72(2):257-68. doi: 10.1016/j.neuron.2011.09.010. Epub 2011 Sep 21. Neuron. 2011. PMID: 21944779 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 M, Cich… See abstract for full author list ➔ van Rheenen W, et al. 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.
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.
Johnson JO, Chia R, Miller DE, Li R, Kumaran R, Abramzon Y, Alahmady N, Renton AE, Topp SD, Gibbs JR, Cookson MR, Sabir MS, Dalgard CL, Troakes C, Jones AR, Shatunov A, Iacoangeli A, Al Khleifat A, Ticozzi N, Silani V, Gellera C, Blair IP, Dobson-Stone C, Kwok JB, Bonkowski ES, Palvadeau R, Tienari PJ, Morrison KE, Shaw PJ, Al-Chalabi A, Brown RH Jr, Calvo A, Mora G, Al-Saif H, Gotkine M, Leigh F, Chang IJ, Perlman SJ, Glass I, Scott AI, Shaw CE, Basak AN, Landers JE, Chiò A, Crawford TO, Smith BN, Traynor BJ; FALS Sequencing Consortium; American Genome Center; International ALS Genomics Consortium; and ITALSGEN Consortium; Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp SD, Scotter EL, Kenna KP, Keagle P, Tiloca C, Vance C, Troakes C, Colombrita C, King A, Pensato V, Castellotti B, Baas F, Ten Asbroek ALMA, McKenna-Yasek D, McLaughlin RL, Polak M, Asress S, Esteban-Pérez J, Stevic Z, D'Alfonso S, Mazzini L, Comi GP, Del Bo R, Ceroni M, Gagliardi S, Querin G, Bertolin C, van Rheenen W, Rademakers R, van Blitterswijk M, Lauria G, Duga S, Corti S, Cereda C, Corrado L, Sorarù G, Williams KL, Nicholson GA, Blair IP, Leblond-Manry C, Rouleau GA, Hardiman O, Morrison KE, Veldink JH, van … See abstract for full author list ➔ Johnson JO, et al. Among authors: simone i. JAMA Neurol. 2021 Oct 1;78(10):1236-1248. doi: 10.1001/jamaneurol.2021.2598. JAMA Neurol. 2021. PMID: 34459874 Free PMC article.
Effect of RNS60 in amyotrophic lateral sclerosis: a phase II multicentre, randomized, double-blind, placebo-controlled trial.
Beghi E, Pupillo E, Bianchi E, Bonetto V, Luotti S, Pasetto L, Bendotti C, Tortarolo M, Sironi F, Camporeale L, Sherman AV, Paganoni S, Scognamiglio A, De Marchi F, Bongioanni P, Del Carratore R, Caponnetto C, Diamanti L, Martinelli D, Calvo A, Filosto M, Padovani A, Piccinelli SC, Ricci C, Dalla Giacoma S, De Angelis N, Inghilleri M, Spataro R, La Bella V, Logroscino G, Lunetta C, Tarlarini C, Mandrioli J, Martinelli I, Simonini C, Zucchi E, Monsurrò MR, Ricciardi D, Trojsi F, Riva N, Filippi M, Simone IL, Sorarù G, Spera C, Florio L, Messina S, Russo M, Siciliano G, Conte A, Saddi MV, Carboni N, Mazzini L; RNS60-ALS Study Group. Beghi E, et al. Among authors: simone il. Eur J Neurol. 2023 Jan;30(1):69-86. doi: 10.1111/ene.15573. Epub 2022 Oct 7. Eur J Neurol. 2023. PMID: 36148821 Free PMC article. Clinical Trial.
Diagnostic Value of Cerebrospinal Fluid Neurofilament Light Protein in Neurology: A Systematic Review and Meta-analysis.
Bridel C, van Wieringen WN, Zetterberg H, Tijms BM, Teunissen CE; and the NFL Group; Alvarez-Cermeño JC, Andreasson U, Axelsson M, Bäckström DC, Bartos A, Bjerke M, Blennow K, Boxer A, Brundin L, Burman J, Christensen T, Fialová L, Forsgren L, Frederiksen JL, Gisslén M, Gray E, Gunnarsson M, Hall S, Hansson O, Herbert MK, Jakobsson J, Jessen-Krut J, Janelidze S, Johannsson G, Jonsson M, Kappos L, Khademi M, Khalil M, Kuhle J, Landén M, Leinonen V, Logroscino G, Lu CH, Lycke J, Magdalinou NK, Malaspina A, Mattsson N, Meeter LH, Mehta SR, Modvig S, Olsson T, Paterson RW, Pérez-Santiago J, Piehl F, Pijnenburg YAL, Pyykkö OT, Ragnarsson O, Rojas JC, Romme Christensen J, Sandberg L, Scherling CS, Schott JM, Sellebjerg FT, Simone IL, Skillbäck T, Stilund M, Sundström P, Svenningsson A, Tortelli R, Tortorella C, Trentini A, Troiano M, Turner MR, van Swieten JC, Vågberg M, Verbeek MM, Villar LM, Visser PJ, Wallin A, Weiss A, Wikkelsø C, Wild EJ. Bridel C, et al. Among authors: simone il. JAMA Neurol. 2019 Sep 1;76(9):1035-1048. doi: 10.1001/jamaneurol.2019.1534. JAMA Neurol. 2019. PMID: 31206160 Free PMC article.
Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data.
Saez-Atienzar S, Souza CDS, Chia R, Beal SN, Lorenzini I, Huang R, Levy J, Burciu C, Ding J, Gibbs JR, Jones A, Dewan R, Pensato V, Peverelli S, Corrado L, van Vugt JJFA, van Rheenen W, Tunca C, Bayraktar E, Xia M; International ALS Genomics Consortium; ITALSGEN Consortium; SLAGEN Consortium; Project MinE ALS Sequencing Consortium; Iacoangeli A, Shatunov A, Tiloca C, Ticozzi N, Verde F, Mazzini L, Kenna K, Al Khleifat A, Opie-Martin S, Raggi F, Filosto M, Piccinelli SC, Padovani A, Gagliardi S, Inghilleri M, Ferlini A, Vasta R, Calvo A, Moglia C, Canosa A, Manera U, Grassano M, Mandrioli J, Mora G, Lunetta C, Tanel R, Trojsi F, Cardinali P, Gallone S, Brunetti M, Galimberti D, Serpente M, Fenoglio C, Scarpini E, Comi GP, Corti S, Del Bo R, Ceroni M, Pinter GL, Taroni F, Bella ED, Bersano E, Curtis CJ, Lee SH, Chung R, Patel H, Morrison KE, Cooper-Knock J, Shaw PJ, Breen G, Dobson RJB, Dalgard CL; American Genome Center; Scholz SW, Al-Chalabi A, van den Berg LH, McLaughlin R, Hardiman O, Cereda C, Sorarù G, D'Alfonso S, Chandran S, Pal S, Ratti A, Gellera C, Johnson K, Doucet-O'Hare T, Pasternack N, Wang T, Nath A, Siciliano G, Silani V, Başak AN, Veldink JH, Camu W, Glass JD, Land… See abstract for full author list ➔ Saez-Atienzar S, et al. Cell Genom. 2024 Nov 13;4(11):100679. doi: 10.1016/j.xgen.2024.100679. Epub 2024 Oct 21. Cell Genom. 2024. PMID: 39437787 Free article.
Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?
Ricci M, Cicala G, Capasso A, Coratti G, Fiori S, Cutrona C, D'Amico A, Sansone VA, Bruno C, Messina S, Mongini T, Coccia M, Siciliano G, Pegoraro E, Masson R, Filosto M, Comi GP, Corti S, Ronchi D, Maggi L, D'Angelo MG, Vacchiano V, Ticci C, Ruggiero L, Verriello L, Ricci FS, Berardinelli AL, Maioli MA, Garibaldi M, Nigro V, Previtali SC, Pera MC, Tizzano E, Pane M, Tiziano FD, Mercuri E; ITASMAC Working Group. Ricci M, et al. Ann Neurol. 2023 Dec;94(6):1126-1135. doi: 10.1002/ana.26788. Epub 2023 Sep 22. Ann Neurol. 2023. PMID: 37695206 Free article.
Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey.
Coratti G, Ricci M, Capasso A, D'amico A, Sansone V, Bruno C, Messina S, Ricci F, Mongini T, Coccia M, Siciliano G, Pegoraro E, Turri M, Filosto M, Comi G, Masson R, Maggi L, Bruno I, D'Angelo MG, Trabacca A, Vacchiano V, Donati M, Simone I, Ruggiero L, Varone A, Verriello L, Berardinelli A, Agosto C, Pini A, Maioli MA, Passamano L, Brighina F, Carboni N, Garibaldi M, Zuccarino R, Gagliardi D, Siliquini S, Previtali S, Taruscio D, Boccia S, Pera MC, Pane M, Mercuri E; ITASMAC working group. Coratti G, et al. Among authors: simone i. Neurology. 2023 Mar 14;100(11):522-528. doi: 10.1212/WNL.0000000000201654. Epub 2022 Dec 2. Neurology. 2023. PMID: 36460469 Free PMC article.
Blood Coagulation and Beyond: Position Paper from the Fourth Maastricht Consensus Conference on Thrombosis.
Akbulut AC, Arisz RA, Baaten CCFMJ, Baidildinova G, Barakzie A, Bauersachs R, Ten Berg J, van den Broek WWA, de Boer HC, Bonifay A, Bröker V, Buka RJ, Ten Cate H, Ten Cate-Hoek AJ, Cointe S, De Luca C, De Simone I, Diaz RV, Dignat-George F, Freson K, Gazzaniga G, van Gorp ECM, Habibi A, Henskens YMC, Iding AFJ, Khan A, Koenderink GH, Konkoth A, Lacroix R, Lahiri T, Lam W, Lamerton RE, Lorusso R, Luo Q, Maas C, McCarty OJT, van der Meijden PEJ, Meijers JCM, Mohapatra AK, Nevo N, Robles AP, Poncelet P, Reinhardt C, Ruf W, Saraswat R, Schönichen C, Schutgens R, Simioni P, Spada S, Spronk HMH, Tazhibayeva K, Thachil J, Diaz RV, Vallier L, Veninga A, Verhamme P, Visser C, Watson SP, Wenzel P, Willems RAL, Willers A, Zhang P, Zifkos K, van Zonneveld AJ. Akbulut AC, et al. Among authors: de simone i. Thromb Haemost. 2023 Aug;123(8):808-839. doi: 10.1055/a-2052-9175. Epub 2023 Mar 13. Thromb Haemost. 2023. PMID: 36913975 Free PMC article.
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