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2011 2
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2020 2
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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
Longitudinal serum biomarker screening identifies malate dehydrogenase 2 as candidate prognostic biomarker for Duchenne muscular dystrophy.
Signorelli M, Ayoglu B, Johansson C, Lochmüller H, Straub V, Muntoni F, Niks E, Tsonaka R, Persson A, Aartsma-Rus A, Nilsson P, Al-Khalili Szigyarto C, Spitali P. Signorelli M, et al. J Cachexia Sarcopenia Muscle. 2020 Apr;11(2):505-517. doi: 10.1002/jcsm.12517. Epub 2019 Dec 27. J Cachexia Sarcopenia Muscle. 2020. PMID: 31881125 Free PMC article.
Analysis of the functional capacity outcome measures for myotonic dystrophy.
Jimenez-Moreno AC, Nikolenko N, Kierkegaard M, Blain AP, Newman J, Massey C, Moat D, Sodhi J, Atalaia A, Gorman GS, Turner C, Lochmüller H. Jimenez-Moreno AC, et al. Ann Clin Transl Neurol. 2019 Aug;6(8):1487-1497. doi: 10.1002/acn3.50845. Epub 2019 Jul 22. Ann Clin Transl Neurol. 2019. PMID: 31402614 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.
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.
Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease.
Wood L, Bassez G, Bleyenheuft C, Campbell C, Cossette L, Jimenez-Moreno AC, Dai Y, Dawkins H, Manera JAD, Dogan C, El Sherif R, Fossati B, Graham C, Hilbert J, Kastreva K, Kimura E, Korngut L, Kostera-Pruszczyk A, Lindberg C, Lindvall B, Luebbe E, Lusakowska A, Mazanec R, Meola G, Orlando L, Takahashi MP, Peric S, Puymirat J, Rakocevic-Stojanovic V, Rodrigues M, Roxburgh R, Schoser B, Segovia S, Shatillo A, Thiele S, Tournev I, van Engelen B, Vohanka S, Lochmüller H. Wood L, et al. Orphanet J Rare Dis. 2018 Sep 5;13(1):155. doi: 10.1186/s13023-018-0889-0. Orphanet J Rare Dis. 2018. PMID: 30185236 Free PMC article.
60 results