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Year Number of Results
1985 1
1988 1
1992 1
1998 3
1999 2
2001 1
2006 2
2010 1
2011 1
2012 4
2013 3
2014 3
2015 1
2016 4
2017 2
2018 3
2019 7
2020 7
2021 4
2022 3
2024 0

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47 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, Laaks… See abstract for full author list ➔ Nicolas A, et al. Among authors: munoz blanco jl. Neuron. 2018 Mar 21;97(6):1267-1288. doi: 10.1016/j.neuron.2018.02.027. Neuron. 2018. PMID: 29566793 Free PMC article.
Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease.
Gutiérrez Gutiérrez G, Díaz-Manera J, Almendrote M, Azriel S, Eulalio Bárcena J, Cabezudo García P, Camacho Salas A, Casanova Rodríguez C, Cobo AM, Díaz Guardiola P, Fernández-Torrón R, Gallano Petit MP, García Pavía P, Gómez Gallego M, Gutiérrez Martínez AJ, Jericó I, Kapetanovic García S, López de Munaín Arregui A, Martorell L, Morís de la Tassa G, Moreno Zabaleta R, Muñoz-Blanco JL, Olivar Roldán J, Pascual Pascual SI, Peinado Peinado R, Pérez H, Poza Aldea JJ, Rabasa M, Ramos A, Rosado Bartolomé A, Rubio Pérez MÁ, Urtizberea JA, Zapata-Wainberg G, Gutiérrez-Rivas E. Gutiérrez Gutiérrez G, et al. Among authors: munoz blanco jl. Neurologia (Engl Ed). 2020 Apr;35(3):185-206. doi: 10.1016/j.nrl.2019.01.001. Epub 2019 Apr 16. Neurologia (Engl Ed). 2020. PMID: 31003788 Free article. English, Spanish.
[Catastrophic neuromuscular diseases].
Muñoz Blanco JL. Muñoz Blanco JL. Neurologia. 2010 Oct;25 Suppl 1:37-45. doi: 10.1016/S0213-4853(10)70049-9. Neurologia. 2010. PMID: 21129596 Free article. Review. Spanish.
ALS: A bucket of genes, environment, metabolism and unknown ingredients.
Zufiría M, Gil-Bea FJ, Fernández-Torrón R, Poza JJ, Muñoz-Blanco JL, Rojas-García R, Riancho J, López de Munain A. Zufiría M, et al. Among authors: munoz blanco jl. Prog Neurobiol. 2016 Jul;142:104-129. doi: 10.1016/j.pneurobio.2016.05.004. Epub 2016 May 26. Prog Neurobiol. 2016. PMID: 27236050 Review.
NEK1 variants confer susceptibility to amyotrophic lateral sclerosis.
Kenna KP, van Doormaal PT, Dekker AM, Ticozzi N, Kenna BJ, Diekstra FP, van Rheenen W, van Eijk KR, Jones AR, Keagle P, Shatunov A, Sproviero W, Smith BN, van Es MA, Topp SD, Kenna A, Miller JW, Fallini C, Tiloca C, McLaughlin RL, Vance C, Troakes C, Colombrita C, Mora G, Calvo A, Verde F, Al-Sarraj S, King A, Calini D, de Belleroche J, Baas F, van der Kooi AJ, de Visser M, Ten Asbroek AL, Sapp PC, McKenna-Yasek D, Polak M, Asress S, Muñoz-Blanco JL, Strom TM, Meitinger T, Morrison KE; SLAGEN Consortium; Lauria G, Williams KL, Leigh PN, Nicholson GA, Blair IP, Leblond CS, Dion PA, Rouleau GA, Pall H, Shaw PJ, Turner MR, Talbot K, Taroni F, Boylan KB, Van Blitterswijk M, Rademakers R, Esteban-Pérez J, García-Redondo A, Van Damme P, Robberecht W, Chio A, Gellera C, Drepper C, Sendtner M, Ratti A, Glass JD, Mora JS, Basak NA, Hardiman O, Ludolph AC, Andersen PM, Weishaupt JH, Brown RH Jr, Al-Chalabi A, Silani V, Shaw CE, van den Berg LH, Veldink JH, Landers JE. Kenna KP, et al. Among authors: munoz blanco jl. Nat Genet. 2016 Sep;48(9):1037-42. doi: 10.1038/ng.3626. Epub 2016 Jul 25. Nat Genet. 2016. PMID: 27455347 Free PMC article.
Corticospinal tract and motor cortex degeneration in pure hereditary spastic paraparesis type 4 (SPG4).
Navas-Sánchez FJ, Martín De Blas D, Fernández-Pena A, Alemán-Gómez Y, Lage-Castellanos A, Marcos-Vidal L, Guzmán-De-Villoria JA, Catalina I, Lillo L, Muñoz-Blanco JL, -Ugalde AO, Quintáns B, Sobrido MJ, Carmona S, Grandas F, Desco M. Navas-Sánchez FJ, et al. Among authors: munoz blanco jl. Amyotroph Lateral Scler Frontotemporal Degener. 2022 Feb;23(1-2):25-34. doi: 10.1080/21678421.2021.1962353. Epub 2021 Aug 16. Amyotroph Lateral Scler Frontotemporal Degener. 2022. PMID: 34396852
CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia.
Williams KL, Topp S, Yang S, Smith B, Fifita JA, Warraich ST, Zhang KY, Farrawell N, Vance C, Hu X, Chesi A, Leblond CS, Lee A, Rayner SL, Sundaramoorthy V, Dobson-Stone C, Molloy MP, van Blitterswijk M, Dickson DW, Petersen RC, Graff-Radford NR, Boeve BF, Murray ME, Pottier C, Don E, Winnick C, McCann EP, Hogan A, Daoud H, Levert A, Dion PA, Mitsui J, Ishiura H, Takahashi Y, Goto J, Kost J, Gellera C, Gkazi AS, Miller J, Stockton J, Brooks WS, Boundy K, Polak M, Muñoz-Blanco JL, Esteban-Pérez J, Rábano A, Hardiman O, Morrison KE, Ticozzi N, Silani V, de Belleroche J, Glass JD, Kwok JB, Guillemin GJ, Chung RS, Tsuji S, Brown RH Jr, García-Redondo A, Rademakers R, Landers JE, Gitler AD, Rouleau GA, Cole NJ, Yerbury JJ, Atkin JD, Shaw CE, Nicholson GA, Blair IP. Williams KL, et al. Among authors: munoz blanco jl. Nat Commun. 2016 Apr 15;7:11253. doi: 10.1038/ncomms11253. Nat Commun. 2016. PMID: 27080313 Free PMC article.
Charcot-Marie-Tooth 4C and bilateral spinal dissection: Causal or coincidental relationship?
López Anguita S, Iglesias Mohedano AM, Palacios Mendoza MA, Muñoz Blanco JL. López Anguita S, et al. Among authors: munoz blanco jl. Neurologia (Engl Ed). 2020 Nov 8:S0213-4853(20)30309-1. doi: 10.1016/j.nrl.2020.10.006. Online ahead of print. Neurologia (Engl Ed). 2020. PMID: 33176920 Free article. English, Spanish. No abstract available.
47 results