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1992 1
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2002 1
2003 1
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2012 3
2013 8
2014 1
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2020 5
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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: ealing j. Neuron. 2018 Mar 21;97(6):1267-1288. doi: 10.1016/j.neuron.2018.02.027. Neuron. 2018. PMID: 29566793 Free PMC article.
Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only.
Evans DG, Bowers N, Burkitt-Wright E, Miles E, Garg S, Scott-Kitching V, Penman-Splitt M, Dobbie A, Howard E, Ealing J, Vassalo G, Wallace AJ, Newman W; Northern UK NF1 Research Network; Huson SM. Evans DG, et al. Among authors: ealing j. EBioMedicine. 2016 May;7:212-20. doi: 10.1016/j.ebiom.2016.04.005. Epub 2016 Apr 13. EBioMedicine. 2016. PMID: 27322474 Free PMC article.
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.
Dominik N, Magri S, Currò R, Abati E, Facchini S, Corbetta M, Macpherson H, Di Bella D, Sarto E, Stevanovski I, Chintalaphani SR, Akcimen F, Manini A, Vegezzi E, Quartesan I, Montgomery KA, Pirota V, Crespan E, Perini C, Grupelli GP, Tomaselli PJ, Marques W; Genomics England Research Consortium; Shaw J, Polke J, Salsano E, Fenu S, Pareyson D, Pisciotta C, Tofaris GK, Nemeth AH, Ealing J, Radunovic A, Kearney S, Kumar KR, Vucic S, Kennerson M, Reilly MM, Houlden H, Deveson I, Tucci A, Taroni F, Cortese A. Dominik N, et al. Among authors: ealing j. Brain. 2023 Dec 1;146(12):5060-5069. doi: 10.1093/brain/awad240. Brain. 2023. PMID: 37450567 Free PMC article.
Clinical trials in amyotrophic lateral sclerosis: a systematic review and perspective.
Wong C, Stavrou M, Elliott E, Gregory JM, Leigh N, Pinto AA, Williams TL, Chataway J, Swingler R, Parmar MKB, Stallard N, Weir CJ, Parker RA, Chaouch A, Hamdalla H, Ealing J, Gorrie G, Morrison I, Duncan C, Connelly P, Carod-Artal FJ, Davenport R, Reitboeck PG, Radunovic A, Srinivasan V, Preston J, Mehta AR, Leighton D, Glasmacher S, Beswick E, Williamson J, Stenson A, Weaver C, Newton J, Lyle D, Dakin R, Macleod M, Pal S, Chandran S. Wong C, et al. Among authors: ealing j. Brain Commun. 2021 Oct 23;3(4):fcab242. doi: 10.1093/braincomms/fcab242. eCollection 2021. Brain Commun. 2021. PMID: 34901853 Free PMC article. Review.
Schwannomatosis: a genetic and epidemiological study.
Evans DG, Bowers NL, Tobi S, Hartley C, Wallace AJ, King AT, Lloyd SKW, Rutherford SA, Hammerbeck-Ward C, Pathmanaban ON, Freeman SR, Ealing J, Kellett M, Laitt R, Thomas O, Halliday D, Ferner R, Taylor A, Duff C, Harkness EF, Smith MJ. Evans DG, et al. Among authors: ealing j. J Neurol Neurosurg Psychiatry. 2018 Nov;89(11):1215-1219. doi: 10.1136/jnnp-2018-318538. Epub 2018 Jun 16. J Neurol Neurosurg Psychiatry. 2018. PMID: 29909380
Farrell valve relieves bloating in gastrostomy patient.
Phippen A, Brennan E, Ealing J, Kay S, Waterman D. Phippen A, et al. Among authors: ealing j. BMJ Support Palliat Care. 2017 Sep;7(3):258-260. doi: 10.1136/bmjspcare-2017-001375. Epub 2017 Jul 3. BMJ Support Palliat Care. 2017. PMID: 28676497
Development and validation of Spasticity Index-Amyotrophic Lateral Sclerosis.
Milinis K, Tennant A, Mills RJ, Al-Chalabi A, Burke G, Dick DJ, Ealing J, Hanemann CO, Harrower T, McDermott CJ, Majeed T, Pinto A, Talbot K, Williams T, Young CA; TONiC study group. Milinis K, et al. Among authors: ealing j. Acta Neurol Scand. 2018 Jul;138(1):47-54. doi: 10.1111/ane.12910. Epub 2018 Feb 21. Acta Neurol Scand. 2018. PMID: 29468643
Fatigue and anxiety mediate the effect of dyspnea on quality of life in amyotrophic lateral sclerosis.
Young C, Ealing J, McDermott C, Williams T, Al-Chalabi A, Majeed T, Roberts R, Mills R, Tennant A; Tonic Study Group. Young C, et al. Among authors: ealing j. Amyotroph Lateral Scler Frontotemporal Degener. 2022 Aug;23(5-6):390-398. doi: 10.1080/21678421.2021.1990343. Epub 2021 Oct 28. Amyotroph Lateral Scler Frontotemporal Degener. 2022. PMID: 34709092
Measuring quality of life in ALS/MND: validation of the WHOQOL-BREF.
Young CA, Mills R, Al-Chalabi A, Burke G, Chandran S, Dick DJ, Ealing J, Hanemann CO, Harrower T, Mcdermott CJ, Majeed T, Pinto A, Talbot K, Walsh J, Williams TL, Tennant A; TONiC study group. Young CA, et al. Among authors: ealing j. Amyotroph Lateral Scler Frontotemporal Degener. 2020 Jun 27:1-9. doi: 10.1080/21678421.2020.1752244. Online ahead of print. Amyotroph Lateral Scler Frontotemporal Degener. 2020. PMID: 32597226
57 results