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

Year Number of Results
2004 4
2005 1
2006 3
2007 7
2008 8
2009 4
2010 7
2011 11
2012 14
2013 12
2014 6
2015 3
2016 2
2017 5
2018 5
2019 7
2020 8
2021 4
2022 2
2023 7
2024 4

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104 results

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Page 1
Small fibre neuropathy in Fabry disease: a human-derived neuronal in vitro disease model and pilot data.
Klein T, Grüner J, Breyer M, Schlegel J, Schottmann NM, Hofmann L, Gauss K, Mease R, Erbacher C, Finke L, Klein A, Klug K, Karl-Schöller F, Vignolo B, Reinhard S, Schneider T, Günther K, Fink J, Dudek J, Maack C, Klopocki E, Seibel J, Edenhofer F, Wischmeyer E, Sauer M, Üçeyler N. Klein T, et al. Among authors: klopocki e. Brain Commun. 2024 Apr 3;6(2):fcae095. doi: 10.1093/braincomms/fcae095. eCollection 2024. Brain Commun. 2024. PMID: 38638148 Free PMC article.
Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome.
Koparir A, Lekszas C, Keseroglu K, Rose T, Rappl L, Rad A, Maroofian R, Narendran N, Hasanzadeh A, Karimiani EG, Boschann F, Kornak U, Klopocki E, Özbudak EM, Vona B, Haaf T, Liedtke D. Koparir A, et al. Among authors: klopocki e. Hum Genomics. 2024 Mar 6;18(1):23. doi: 10.1186/s40246-024-00593-w. Hum Genomics. 2024. PMID: 38448978 Free PMC article.
Mutations in DNAJC19 cause altered mitochondrial structure and increased mitochondrial respiration in human iPSC-derived cardiomyocytes.
Janz A, Walz K, Cirnu A, Surjanto J, Urlaub D, Leskien M, Kohlhaas M, Nickel A, Brand T, Nose N, Wörsdörfer P, Wagner N, Higuchi T, Maack C, Dudek J, Lorenz K, Klopocki E, Ergün S, Duff HJ, Gerull B. Janz A, et al. Among authors: klopocki e. Mol Metab. 2024 Jan;79:101859. doi: 10.1016/j.molmet.2023.101859. Epub 2023 Dec 23. Mol Metab. 2024. PMID: 38142971 Free PMC article.
Generation of induced pluripotent stem cell line (UKWNLi008) derived from a patient carrying a c.1678C>G variant in the transient receptor potential cation channel subfamily A member (TRPA1) gene potentially associated with small fiber neuropathy.
Schottmann NM, Klug K, Klopocki E, Üçeyler N. Schottmann NM, et al. Among authors: klopocki e. Stem Cell Res. 2023 Jun;69:103094. doi: 10.1016/j.scr.2023.103094. Epub 2023 Apr 12. Stem Cell Res. 2023. PMID: 37079968 Free article.
104 results