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Year Number of Results
2008 2
2009 3
2010 3
2011 3
2012 1
2013 1
2015 2
2016 2
2017 1
2018 2
2019 2
2020 2
2021 1
2022 3
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Page 1
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, Cichon S, Nöthen MM, Amouyel P; SLALOM Consortium; PARALS Consortium; SLAGEN Consortium; SLAP Consortium, Traynor BJ, Singleton AB, Mitne Neto M, Cauchi RJ, Ophoff RA, Wiedau-Pazos M, Lomen-Hoerth C, van Deerlin VM, Grosskreutz J, Roediger A, Gaur N, Jörk A, Barthel T, Theele E, Ilse B, Stubendorff B, Witte OW, Steinbach R, Hübner CA, Graff C, Brylev L, Fominykh V, Demeshonok V, Ataulina A, Rogelj B, Koritnik B, Zidar J, Ravnik-Glavač M, Glavač D, Stević Z, Drory V, Povedano M, Blair IP, Kiernan MC, Benyamin B, Henderson RD, Furlong S, Mathers S, McCombe PA, Needham M, Ngo ST, Nicholson GA, Pamphlett R, Rowe DB, Steyn FJ, Williams KL, Mather KA, Sachdev PS, Henders AK, Wallace L, de Carvalho M, Pinto S, Petri S, Weber M, Rouleau GA, Silani V, Curtis CJ, Breen G, Glass JD, Brown RH Jr, Landers JE, Shaw CE, Andersen PM, Groen EJN, van Es MA, Pasterkamp RJ, Fan D, Garton FC, McRae AF, Davey Smith G, Gaunt TR, Eberle MA, Mill J, McLaughlin RL, Hardiman O, Kenna KP, Wray NR, Tsai E, Runz H, Franke L, Al-Chalabi A, Van Damme P, van den Berg LH, Veldink JH. van Rheenen W, et al. Among authors: nefussy b. 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.
The NEALS primary lateral sclerosis registry.
Paganoni S, De Marchi F, Chan J, Thrower SK, Staff NP, Datta N, Kisanuki YY, Drory V, Fournier C, Pioro EP, Goutman SA, Atassi N; NEALS PLS Registry Study Group, Jeon M, Caldwell S, Mcdonough T, Gentile C, Liu J, Turner M, Denny C, Felice K, Green M, Scarberry S, Abu-Saleh S, Nefussy B, Hastings D, Kim S, Swihart B, Arcila-Londono X, Newman DS, Silverman M, Genge A, Salmon K, Elman L, Mccluskey L, Almasy K, Gotkine M, Goslin K, Cummings A, Edwards EK, Rivner M, Bouchard K, Quarles B, Kwan J, Jaffa M, Baloh R, Allred P, Walk D, Maiser S, Manousakis G, Ferment V, Fernandes JAM Jr, Thaisetthawatkul P, Heimes D, Phillips M, Sams L, Kahler M, Corcoran A, Larriviere DG, Chotto S, Juba G. Paganoni S, et al. Among authors: nefussy b. Amyotroph Lateral Scler Frontotemporal Degener. 2020 Nov;21(sup1):74-81. doi: 10.1080/21678421.2020.1804591. Epub 2020 Sep 11. Amyotroph Lateral Scler Frontotemporal Degener. 2020. PMID: 32915077
"ALS reversals": demographics, disease characteristics, treatments, and co-morbidities.
Harrison D, Mehta P, van Es MA, Stommel E, Drory VE, Nefussy B, van den Berg LH, Crayle J, Bedlack R; Pooled Resource Open-Access ALS Clinical Trials Consortium. Harrison D, et al. Among authors: nefussy b. Amyotroph Lateral Scler Frontotemporal Degener. 2018 Nov;19(7-8):495-499. doi: 10.1080/21678421.2018.1457059. Epub 2018 Apr 2. Amyotroph Lateral Scler Frontotemporal Degener. 2018. PMID: 29607695
A novel mutation in TARDBP segregates with amyotrophic lateral sclerosis in a large family with early onset and fast progression.
Goldstein O, Kedmi M, Gana-Weisz M, Nefussy B, Vainer B, Fainmesser Y, Drory VE, Orr-Urtreger A. Goldstein O, et al. Among authors: nefussy b. Amyotroph Lateral Scler Frontotemporal Degener. 2020 May;21(3-4):280-285. doi: 10.1080/21678421.2020.1747496. Epub 2020 Apr 7. Amyotroph Lateral Scler Frontotemporal Degener. 2020. PMID: 32253937
High frequency of C9orf72 hexanucleotide repeat expansion in amyotrophic lateral sclerosis patients from two founder populations sharing the same risk haplotype.
Goldstein O, Gana-Weisz M, Nefussy B, Vainer B, Nayshool O, Bar-Shira A, Traynor BJ, Drory VE, Orr-Urtreger A. Goldstein O, et al. Among authors: nefussy b. Neurobiol Aging. 2018 Apr;64:160.e1-160.e7. doi: 10.1016/j.neurobiolaging.2017.12.015. Epub 2017 Dec 27. Neurobiol Aging. 2018. PMID: 29352617 Free PMC article.
24 results