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Year Number of Results
2011 2
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2013 7
2014 6
2015 10
2016 14
2017 14
2018 9
2019 6
2020 2
2024 0

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Page 1
The Human Phenotype Ontology in 2017.
Köhler S, Vasilevsky NA, Engelstad M, Foster E, McMurry J, Aymé S, Baynam G, Bello SM, Boerkoel CF, Boycott KM, Brudno M, Buske OJ, Chinnery PF, Cipriani V, Connell LE, Dawkins HJ, DeMare LE, Devereau AD, de Vries BB, Firth HV, Freson K, Greene D, Hamosh A, Helbig I, Hum C, Jähn JA, James R, Krause R, F Laulederkind SJ, Lochmüller H, Lyon GJ, Ogishima S, Olry A, Ouwehand WH, Pontikos N, Rath A, Schaefer F, Scott RH, Segal M, Sergouniotis PI, Sever R, Smith CL, Straub V, Thompson R, Turner C, Turro E, Veltman MW, Vulliamy T, Yu J, von Ziegenweidt J, Zankl A, Züchner S, Zemojtel T, Jacobsen JO, Groza T, Smedley D, Mungall CJ, Haendel M, Robinson PN. Köhler S, et al. Nucleic Acids Res. 2017 Jan 4;45(D1):D865-D876. doi: 10.1093/nar/gkw1039. Epub 2016 Nov 28. Nucleic Acids Res. 2017. PMID: 27899602 Free PMC article. Review.
Activities of daily living in myotonic dystrophy type 1.
Landfeldt E, Nikolenko N, Jimenez-Moreno C, Cumming S, Monckton DG, Faber CG, Merkies ISJ, Gorman G, Turner C, Lochmüller H. Landfeldt E, et al. Acta Neurol Scand. 2020 May;141(5):380-387. doi: 10.1111/ane.13215. Epub 2020 Jan 21. Acta Neurol Scand. 2020. PMID: 31889295 Free article.
Compliance to Care Guidelines for Duchenne Muscular Dystrophy.
Landfeldt E, Lindgren P, Bell CF, Schmitt C, Guglieri M, Straub V, Lochmüller H, Bushby K. Landfeldt E, et al. J Neuromuscul Dis. 2015;2(1):63-72. doi: 10.3233/JND-140053. J Neuromuscul Dis. 2015. PMID: 26870664 Free PMC article.
Disease burden of myotonic dystrophy type 1.
Landfeldt E, Nikolenko N, Jimenez-Moreno C, Cumming S, Monckton DG, Gorman G, Turner C, Lochmüller H. Landfeldt E, et al. J Neurol. 2019 Apr;266(4):998-1006. doi: 10.1007/s00415-019-09228-w. Epub 2019 Feb 20. J Neurol. 2019. PMID: 30788616 Free PMC article.
GNE genotype explains 20% of phenotypic variability in GNE myopathy.
Pogoryelova O, Wilson IJ, Mansbach H, Argov Z, Nishino I, Lochmüller H. Pogoryelova O, et al. Neurol Genet. 2019 Feb 1;5(1):e308. doi: 10.1212/NXG.0000000000000308. eCollection 2019 Feb. Neurol Genet. 2019. PMID: 30842975 Free PMC article.
60 results