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A transposase-derived gene required for human brain development.
Zapater LJ, Lewis SA, Gutierrez RL, Yamada M, Rodriguez-Fos E, Planas-Felix M, Cameron D, Demarest P, Nabila A, Mueller H, Zhao J, Bergin P, Reed C, Chwat-Edelstein T, Pagnozzi A, Nava C, Bourel-Ponchel E, Cornejo P, Dursun A, Özgül RK, Akar HT, Maroofian R, Houlden H, Cheema HA, Anjum MN, Zifarelli G, Essid M, Ben Hafsa M, Benrhouma H, Montoya CIG, Proekt A, Zhao X, Socci ND, Hayes M, Bigot Y, Rabadan R, Torrents D, Kleinmann CL, Kruer MC, Toth M, Kentsis A. Zapater LJ, et al. Among authors: kruer mc. bioRxiv [Preprint]. 2024 Aug 13:2023.04.28.538770. doi: 10.1101/2023.04.28.538770. bioRxiv. 2024. PMID: 37163102 Free PMC article. Preprint.
AGAP1-associated endolysosomal trafficking abnormalities link gene-environment interactions in a neurodevelopmental disorder.
Lewis SA, Bakhtiari S, Forstrom J, Bayat A, Bilan F, Le Guyader G, Alkhunaizi E, Vernon H, Padilla-Lopez SR, Kruer MC. Lewis SA, et al. Among authors: kruer mc. bioRxiv [Preprint]. 2023 Jan 31:2023.01.31.526497. doi: 10.1101/2023.01.31.526497. bioRxiv. 2023. Update in: Dis Model Mech. 2023 Sep 1;16(9):dmm049838. doi: 10.1242/dmm.049838 PMID: 36778426 Free PMC article. Updated. Preprint.
Uncertainties regarding cerebral palsy diagnosis: opportunities to operationalize the consensus definition.
Aravamuthan BR, Fehlings DL, Novak I, Gross P, Alyasiri N, Tilton A, Shevell M, Fahey M, Kruer M. Aravamuthan BR, et al. medRxiv [Preprint]. 2023 Jul 3:2023.06.29.23292028. doi: 10.1101/2023.06.29.23292028. medRxiv. 2023. Update in: Neurol Clin Pract. 2024 Dec;14(6):e200353. doi: 10.1212/CPJ.0000000000200353 PMID: 37461618 Free PMC article. Updated. Preprint.
An inappropriate decline in ribosome levels drives a diverse set of neurodevelopmental disorders.
Ni C, Yu L, Vona B, Park D, Wei Y, Schmitz DA, Wei Y, Ding Y, Sakurai M, Ballard E, Liu Y, Kumar A, Xing C, Kim HG, Ekmekci C, Karimiani EG, Imannezhad S, Eghbal F, Badv RS, Schwaibold EMC, Dehghani M, Mehrjardi MYV, Metanat Z, Eslamiyeh H, Khouj E, Alhajj SMN, Chedrawi A, Alves CAPF, Houlden H, Kruer M, Alkuraya FS, Cenik C, Maroofian R, Wu J, Buszczak M. Ni C, et al. bioRxiv [Preprint]. 2024 Jan 9:2024.01.09.574708. doi: 10.1101/2024.01.09.574708. bioRxiv. 2024. PMID: 38260472 Free PMC article. Preprint.
Chronic striatal cholinergic interneuron excitation induces clinically-relevant dystonic behavior in mice.
Gemperli K, Lu X, Chintalapati K, Rust A, Bajpai R, Suh N, Blackburn J, Gelineau-Morel R, Kruer MC, Mingbundersuk D, O'Malley J, Tochen L, Waugh J, Wu S, Feyma T, Perlmutter J, Mennerick S, McCall J, Aravamuthan BR. Gemperli K, et al. Among authors: kruer mc. bioRxiv [Preprint]. 2023 Jul 21:2023.07.19.549778. doi: 10.1101/2023.07.19.549778. bioRxiv. 2023. PMID: 37503287 Free PMC article. Preprint.
Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndrome.
Smits DJ, Dekker J, Douben H, Schot R, Magee H, Bakhtiari S, Koehler K, Huebner A, Schuelke M, Darvish H, Vosoogh S, Tafakhori A, Jameie M, Taghiabadi E, Wilson Y, Shah M, van Slegtenhorst MA, Medici-van den Herik EG, van Ham TJ, Kruer MC, Mancini GMS. Smits DJ, et al. Among authors: kruer mc. HGG Adv. 2024 Oct 10;5(4):100327. doi: 10.1016/j.xhgg.2024.100327. Epub 2024 Jul 14. HGG Adv. 2024. PMID: 39003500 Free PMC article.
138 results