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

Year Number of Results
1998 2
2004 1
2005 3
2006 4
2007 3
2008 2
2009 1
2010 2
2011 3
2013 3
2014 3
2015 2
2016 2
2017 3
2019 4
2020 3
2021 6
2022 6
2023 3
2024 6

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53 results

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Page 1
The complexities of CACNA1A in clinical neurogenetics.
Hommersom MP, van Prooije TH, Pennings M, Schouten MI, van Bokhoven H, Kamsteeg EJ, van de Warrenburg BPC. Hommersom MP, et al. Among authors: pennings m. J Neurol. 2022 Jun;269(6):3094-3108. doi: 10.1007/s00415-021-10897-9. Epub 2021 Nov 22. J Neurol. 2022. PMID: 34806130
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.
Westra D, Schouten MI, Stunnenberg BC, Kusters B, Saris CGJ, Erasmus CE, van Engelen BG, Bulk S, Verschuuren-Bemelmans CC, Gerkes EH, de Geus C, van der Zwaag PA, Chan S, Chung B, Barge-Schaapveld DQCM, Kriek M, Sznajer Y, van Spaendonck-Zwarts K, van der Kooi AJ, Krause A, Schönewolf-Greulich B, de Die-Smulders C, Sallevelt SCEH, Krapels IPC, Rasmussen M, Maystadt I, Kievit AJA, Witting N, Pennings M, Meijer R, Gillissen C, Kamsteeg EJ, Voermans NC. Westra D, et al. Among authors: pennings m. J Neuromuscul Dis. 2019;6(2):241-258. doi: 10.3233/JND-180376. J Neuromuscul Dis. 2019. PMID: 31127727
Genetic characterization of primary lateral sclerosis.
de Boer EMJ, de Vries BS, Pennings M, Kamsteeg EJ, Veldink JH, van den Berg LH, van Es MA. de Boer EMJ, et al. Among authors: pennings m. J Neurol. 2023 Aug;270(8):3970-3980. doi: 10.1007/s00415-023-11746-7. Epub 2023 May 3. J Neurol. 2023. PMID: 37133535 Free PMC article.
Beta2-glycoprotein I and LDL-receptor family members.
de Groot PG, van Lummel M, Pennings M, Urbanus R, Bas de Laat H, Lenting PJ, Derksen RH. de Groot PG, et al. Among authors: pennings m. Thromb Res. 2004;114(5-6):455-9. doi: 10.1016/j.thromres.2004.06.015. Thromb Res. 2004. PMID: 15507278 Review.
From Tethered to Freestanding Stabilizers of 14-3-3 Protein-Protein Interactions through Fragment Linking.
Visser EJ, Jaishankar P, Sijbesma E, Pennings MAM, Vandenboorn EMF, Guillory X, Neitz RJ, Morrow J, Dutta S, Renslo AR, Brunsveld L, Arkin MR, Ottmann C. Visser EJ, et al. Among authors: pennings mam. Angew Chem Int Ed Engl. 2023 Sep 11;62(37):e202308004. doi: 10.1002/anie.202308004. Epub 2023 Aug 1. Angew Chem Int Ed Engl. 2023. PMID: 37455289 Free PMC article.
Clinical presentation and long-term follow-up of dopamine beta hydroxylase deficiency.
Wassenberg T, Deinum J, van Ittersum FJ, Kamsteeg EJ, Pennings M, Verbeek MM, Wevers RA, van Albada ME, Kema IP, Versmissen J, van den Meiracker T, Lenders JWM, Monnens L, Willemsen MA. Wassenberg T, et al. Among authors: pennings m. J Inherit Metab Dis. 2021 May;44(3):554-565. doi: 10.1002/jimd.12321. Epub 2020 Oct 15. J Inherit Metab Dis. 2021. PMID: 33034372 Free PMC article. Review.
Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications.
Schobers G, Schieving JH, Yntema HG, Pennings M, Pfundt R, Derks R, Hofste T, de Wijs I, Wieskamp N, van den Heuvel S, Galbany JC, Gilissen C, Nelen M, Brunner HG, Kleefstra T, Kamsteeg EJ, Willemsen MAAP, Vissers LELM. Schobers G, et al. Among authors: pennings m. Genome Med. 2022 Jun 17;14(1):66. doi: 10.1186/s13073-022-01069-z. Genome Med. 2022. PMID: 35710456 Free PMC article.
53 results