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Year Number of Results
2011 1
2014 1
2015 1
2016 4
2017 3
2018 2
2019 2
2020 1
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2022 1
2023 1
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18 results

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Page 1
CAPRIN1P512L causes aberrant protein aggregation and associates with early-onset ataxia.
Delle Vedove A, Natarajan J, Zanni G, Eckenweiler M, Muiños-Bühl A, Storbeck M, Guillén Boixet J, Barresi S, Pizzi S, Hölker I, Körber F, Franzmann TM, Bertini ES, Kirschner J, Alberti S, Tartaglia M, Wirth B. Delle Vedove A, et al. Among authors: storbeck m. Cell Mol Life Sci. 2022 Sep 22;79(10):526. doi: 10.1007/s00018-022-04544-3. Cell Mol Life Sci. 2022. PMID: 36136249 Free PMC article.
Multimodal Targeted Deep Sequencing of Circulating Tumor Cells and Matched Cell-Free DNA Provides a More Comprehensive Tool to Identify Therapeutic Targets in Metastatic Breast Cancer Patients.
Keup C, Storbeck M, Hauch S, Hahn P, Sprenger-Haussels M, Hoffmann O, Kimmig R, Kasimir-Bauer S. Keup C, et al. Among authors: storbeck m. Cancers (Basel). 2020 Apr 27;12(5):1084. doi: 10.3390/cancers12051084. Cancers (Basel). 2020. PMID: 32349306 Free PMC article.
Report of a novel ATP7A mutation causing distal motor neuropathy.
Gualandi F, Sette E, Fortunato F, Bigoni S, De Grandis D, Scotton C, Selvatici R, Neri M, Incensi A, Liguori R, Storbeck M, Karakaya M, Simioni V, Squarzoni S, Timmerman V, Wirth B, Donadio V, Tugnoli V, Ferlini A. Gualandi F, et al. Among authors: storbeck m. Neuromuscul Disord. 2019 Oct;29(10):776-785. doi: 10.1016/j.nmd.2019.08.008. Epub 2019 Aug 23. Neuromuscul Disord. 2019. PMID: 31558336
Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies.
Karakaya M, Storbeck M, Strathmann EA, Delle Vedove A, Hölker I, Altmueller J, Naghiyeva L, Schmitz-Steinkrüger L, Vezyroglou K, Motameny S, Alawbathani S, Thiele H, Polat AI, Okur D, Boostani R, Karimiani EG, Wunderlich G, Ardicli D, Topaloglu H, Kirschner J, Schrank B, Maroofian R, Magnusson O, Yis U, Nürnberg P, Heller R, Wirth B. Karakaya M, et al. Among authors: storbeck m. Hum Mutat. 2018 Sep;39(9):1284-1298. doi: 10.1002/humu.23560. Epub 2018 Jul 25. Hum Mutat. 2018. PMID: 29858556
PRUNE1: a disease-causing gene for secondary microcephaly.
Karakaya M, Yilmaz S, Storbeck M, Hoelker I, Heller R, Serdaroglu G, Gökben S, Yis U, Wirth B. Karakaya M, et al. Among authors: storbeck m. Brain. 2017 Oct 1;140(10):e61. doi: 10.1093/brain/awx197. Brain. 2017. PMID: 28969376 No abstract available.
18 results