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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2003 1
2006 1
2007 2
2008 1
2009 3
2010 2
2012 1
2013 5
2014 3
2015 3
2016 7
2017 15
2018 25
2019 12
2020 18
2021 33
2022 29
2023 23
2024 12

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169 results

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Page 1
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis.
Mohassel P, Donkervoort S, Lone MA, Nalls M, Gable K, Gupta SD, Foley AR, Hu Y, Saute JAM, Moreira AL, Kok F, Introna A, Logroscino G, Grunseich C, Nickolls AR, Pourshafie N, Neuhaus SB, Saade D, Gangfuß A, Kölbel H, Piccus Z, Le Pichon CE, Fiorillo C, Ly CV, Töpf A, Brady L, Specht S, Zidell A, Pedro H, Mittelmann E, Thomas FP, Chao KR, Konersman CG, Cho MT, Brandt T, Straub V, Connolly AM, Schara U, Roos A, Tarnopolsky M, Höke A, Brown RH, Lee CH, Hornemann T, Dunn TM, Bönnemann CG. Mohassel P, et al. Among authors: roos a. Nat Med. 2021 Jul;27(7):1197-1204. doi: 10.1038/s41591-021-01346-1. Epub 2021 May 31. Nat Med. 2021. PMID: 34059824 Free PMC article.
Eculizumab treatment alters the proteometabolome beyond the inhibition of complement.
Nelke C, Schroeter CB, Stascheit F, Huntemann N, Pawlitzki M, Willison A, Räuber S, Melzer N, Distler U, Tenzer S, Stühler K, Roos A, Meisel A, Meuth SG, Ruck T. Nelke C, et al. Among authors: roos a. JCI Insight. 2023 Jul 10;8(13):e169135. doi: 10.1172/jci.insight.169135. JCI Insight. 2023. PMID: 37227781 Free PMC article.
Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects.
Roos A, van der Ven PFM, Alrohaif H, Kölbel H, Heil L, Della Marina A, Weis J, Aßent M, Beck-Wödl S, Barresi R, Töpf A, O'Connor K, Sickmann A, Kohlschmidt N, El Gizouli M, Meyer N, Daya N, Grande V, Bois K, Kaiser FJ, Vorgerd M, Schröder C, Schara-Schmidt U, Gangfuss A, Evangelista T, Röbisch L, Hentschel A, Grüneboom A, Fuerst DO, Kuechler A, Tzschach A, Depienne C, Lochmüller H. Roos A, et al. Brain. 2023 Oct 3;146(10):4200-4216. doi: 10.1093/brain/awad152. Brain. 2023. PMID: 37163662
Senescent fibro-adipogenic progenitors are potential drivers of pathology in inclusion body myositis.
Nelke C, Schroeter CB, Theissen L, Preusse C, Pawlitzki M, Räuber S, Dobelmann V, Cengiz D, Kleefeld F, Roos A, Schoser B, Brunn A, Neuen-Jacob E, Zschüntzsch J, Meuth SG, Stenzel W, Ruck T. Nelke C, et al. Among authors: roos a. Acta Neuropathol. 2023 Nov;146(5):725-745. doi: 10.1007/s00401-023-02637-2. Epub 2023 Sep 29. Acta Neuropathol. 2023. PMID: 37773216 Free PMC article.
Towards a functional pathology of hereditary neuropathies.
Weis J, Claeys KG, Roos A, Azzedine H, Katona I, Schröder JM, Senderek J. Weis J, et al. Among authors: roos a. Acta Neuropathol. 2017 Apr;133(4):493-515. doi: 10.1007/s00401-016-1645-y. Epub 2016 Nov 28. Acta Neuropathol. 2017. PMID: 27896434 Review.
Multi-level profiling unravels mitochondrial dysfunction in myotonic dystrophy type 2.
Kleefeld F, Horvath R, Pinal-Fernandez I, Mammen AL, Casal-Dominguez M, Hathazi D, Melchert S, Hahn K, Sickmann A, Muselmann-Genschow C, Hentschel A, Preuße C, Roos A, Schoser B, Stenzel W. Kleefeld F, et al. Among authors: roos a. Acta Neuropathol. 2024 Jan 19;147(1):19. doi: 10.1007/s00401-023-02673-y. Acta Neuropathol. 2024. PMID: 38240888 Free PMC article.
Periostin as a blood biomarker of muscle cell fibrosis, cardiomyopathy and disease severity in myotonic dystrophy type 1.
Nguyen CDL, Jimenez-Moreno AC, Merker M, Bowers CJ, Nikolenko N, Hentschel A, Müntefering T, Isham A, Ruck T, Vorgerd M, Dobelmann V, Gourdon G, Schara-Schmidt U, Gangfuss A, Schröder C, Sickmann A, Gross C, Gorman G, Stenzel W, Kollipara L, Hathazi D, Spendiff S, Gagnon C, Preusse C, Duchesne E, Lochmüller H, Roos A. Nguyen CDL, et al. Among authors: roos a. J Neurol. 2023 Jun;270(6):3138-3158. doi: 10.1007/s00415-023-11633-1. Epub 2023 Mar 9. J Neurol. 2023. PMID: 36892629
NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice.
Jennings MJ, Kagiava A, Vendredy L, Spaulding EL, Stavrou M, Hathazi D, Grüneboom A, De Winter V, Gess B, Schara U, Pogoryelova O, Lochmüller H, Borchers CH, Roos A, Burgess RW, Timmerman V, Kleopa KA, Horvath R. Jennings MJ, et al. Among authors: roos a. Brain. 2022 Nov 21;145(11):3999-4015. doi: 10.1093/brain/awac055. Brain. 2022. PMID: 35148379 Free PMC article.
Improving Risk Stratification for Patients With Type 2 Myocardial Infarction.
Taggart C, Monterrubio-Gómez K, Roos A, Boeddinghaus J, Kimenai DM, Kadesjo E, Bularga A, Wereski R, Ferry A, Lowry M, Anand A, Lee KK, Doudesis D, Manolopoulou I, Nestelberger T, Koechlin L, Lopez-Ayala P, Mueller C, Mills NL, Vallejos CA, Chapman AR. Taggart C, et al. Among authors: roos a. J Am Coll Cardiol. 2023 Jan 17;81(2):156-168. doi: 10.1016/j.jacc.2022.10.025. J Am Coll Cardiol. 2023. PMID: 36631210 Free PMC article.
169 results