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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 7
2025 9

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60 results

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Page 1
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 Free article.
Scaffold-hopping for molecular glues targeting the 14-3-3/ERα complex.
Konstantinidou M, Zingiridis M, Pennings MAM, Fragkiadakis M, Virta JM, Revalde JL, Visser EJ, Ottmann C, Brunsveld L, Neochoritis CG, Arkin MR. Konstantinidou M, et al. Among authors: pennings mam. Nat Commun. 2025 Jul 14;16(1):6467. doi: 10.1038/s41467-025-61176-4. Nat Commun. 2025. PMID: 40659654 Free PMC article.
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.
Optical genome mapping enables accurate testing of large repeat expansions.
van der Sanden B, Neveling K, Shukor S, Gallagher MD, Lee J, Burke SL, Pennings M, van Beek R, Oorsprong M, Kater-Baats E, Kamping E, Tieleman AA, Voermans NC, Scheffer IE, Gecz J, Corbett MA, Vissers LELM, Pang AWC, Hastie A, Kamsteeg EJ, Hoischen A. van der Sanden B, et al. Among authors: pennings m. Genome Res. 2025 Apr 14;35(4):810-823. doi: 10.1101/gr.279491.124. Genome Res. 2025. PMID: 40113266 Free PMC article.
A New Case Series Suggests That SCA48 (ATX/STUB1) Is Primarily a Monogenic Disorder.
van Prooije TH, Pennings M, Dorresteijn L, Gardeitchik T, Odekerken VJJ, Oosterloo M, Pedersen A, Verschuuren-Bemelmans CC, Vrancken A, Kamsteeg EJ, van de Warrenburg BPC. van Prooije TH, et al. Among authors: pennings m. Mov Disord. 2024 Sep;39(9):1636-1640. doi: 10.1002/mds.29912. Epub 2024 Jul 7. Mov Disord. 2024. PMID: 38973070
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.
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
Modulation of the 14-3-3σ/C-RAF "auto"inhibited complex by molecular glues.
Konstantinidou M, Vickery HR, Pennings MAM, Virta JM, Visser EJ, Bannier SD, Srikanth M, Cismoski SZ, Young LC, van den Oetelaar MCM, McCormick F, Ottmann C, Brunsveld L, Arkin MR. Konstantinidou M, et al. Among authors: pennings mam. bioRxiv [Preprint]. 2025 Jul 31:2025.07.30.667769. doi: 10.1101/2025.07.30.667769. bioRxiv. 2025. PMID: 40766587 Free PMC article. Preprint.
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.
60 results