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

Year Number of Results
1983 1
2011 1
2014 1
2015 1
2016 4
2017 3
2018 2
2019 2
2020 1
2021 2
2022 1
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18 results
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Page 1
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.
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.
Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome.
Salpietro V, Lin W, Delle Vedove A, Storbeck M, Liu Y, Efthymiou S, Manole A, Wiethoff S, Ye Q, Saggar A, McElreavey K, Krishnakumar SS; SYNAPS Study Group, Pitt M, Bello OD, Rothman JE, Basel-Vanagaite L, Hubshman MW, Aharoni S, Manzur AY, Wirth B, Houlden H. Salpietro V, et al. Among authors: storbeck m. Ann Neurol. 2017 Apr;81(4):597-603. doi: 10.1002/ana.24905. Epub 2017 Mar 29. Ann Neurol. 2017. PMID: 28253535 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
Plastin 3 is upregulated in iPSC-derived motoneurons from asymptomatic SMN1-deleted individuals.
Heesen L, Peitz M, Torres-Benito L, Hölker I, Hupperich K, Dobrindt K, Jungverdorben J, Ritzenhofen S, Weykopf B, Eckert D, Hosseini-Barkooie SM, Storbeck M, Fusaki N, Lonigro R, Heller R, Kye MJ, Brüstle O, Wirth B. Heesen L, et al. Among authors: storbeck m. Cell Mol Life Sci. 2016 May;73(10):2089-104. doi: 10.1007/s00018-015-2084-y. Epub 2015 Nov 16. Cell Mol Life Sci. 2016. PMID: 26573968
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.
18 results