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

Year Number of Results
2004 1
2005 1
2009 2
2010 2
2012 1
2013 2
2014 2
2015 2
2016 5
2017 6
2018 5
2019 11
2020 6
2021 9
2022 8
2023 17
2024 3

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72 results

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Page 1
A Homozygous NDUFS6 Variant Associated with Neuropathy and Optic Atrophy.
Gangfuß A, Rating P, Ferreira T, Hentschel A, Marina AD, Kölbel H, Sickmann A, Abicht A, Kraft F, Ruck T, Böhm J, Schänzer A, Schara-Schmidt U, Neuhann TM, Horvath R, Roos A. Gangfuß A, et al. Among authors: schanzer a. J Neuromuscul Dis. 2024;11(2):485-491. doi: 10.3233/JND-230181. J Neuromuscul Dis. 2024. PMID: 38217609 Free PMC article.
Muscle diffusion MRI reveals autophagic buildup in a mouse model for Pompe disease.
Rohm M, Russo G, Helluy X, Froeling M, Umathum V, Südkamp N, Manahan-Vaughan D, Rehmann R, Forsting J, Jacobsen F, Roos A, Shin Y, Schänzer A, Vorgerd M, Schlaffke L. Rohm M, et al. Among authors: schanzer a. Sci Rep. 2023 Dec 20;13(1):22822. doi: 10.1038/s41598-023-49971-9. Sci Rep. 2023. PMID: 38129558 Free PMC article.
Correction: Differential effects of mutations of POPDC proteins on heteromeric interaction and membrane trafficking.
Swan AH, Schindler RFR, Savarese M, Mayer I, Rinné S, Bleser F, Schänzer A, Hahn A, Sabatelli M, Perna F, Chapman K, Pfuhl M, Spivey AC, Decher N, Udd B, Tasca G, Brand T. Swan AH, et al. Among authors: schanzer a. Acta Neuropathol Commun. 2023 Jul 11;11(1):114. doi: 10.1186/s40478-023-01591-0. Acta Neuropathol Commun. 2023. PMID: 37434226 Free PMC article. No abstract available.
Molecular and cellular evidence for the impact of a hypertrophic cardiomyopathy-associated RAF1 variant on the structure and function of contractile machinery in bioartificial cardiac tissues.
Nakhaei-Rad S, Haghighi F, Bazgir F, Dahlmann J, Busley AV, Buchholzer M, Kleemann K, Schänzer A, Borchardt A, Hahn A, Kötter S, Schanze D, Anand R, Funk F, Kronenbitter AV, Scheller J, Piekorz RP, Reichert AS, Volleth M, Wolf MJ, Cirstea IC, Gelb BD, Tartaglia M, Schmitt JP, Krüger M, Kutschka I, Cyganek L, Zenker M, Kensah G, Ahmadian MR. Nakhaei-Rad S, et al. Among authors: schanzer a. Commun Biol. 2023 Jun 21;6(1):657. doi: 10.1038/s42003-023-05013-8. Commun Biol. 2023. PMID: 37344639 Free PMC article.
Distribution of ferritin complex in the adult brain and altered composition in neuroferritinopathy due to a novel variant in the ferritin heavy chain gene FTH1 (c.409_410del; p.H137Lfs*4).
Umathum V, Weber A, Amsel D, Alexopoulos I, Becker C, Roth A, Günther A, Selignow C, Ritschel N, Nishimura A, Schaiter A, Németh A, van der Ven PFM, Acker T, Schänzer A. Umathum V, et al. Among authors: schanzer a. Brain Pathol. 2024 Jan;34(1):e13176. doi: 10.1111/bpa.13176. Epub 2023 Jun 2. Brain Pathol. 2024. PMID: 37265023 Free PMC article. No abstract available.
72 results