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STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.
Stamberger H, Nikanorova M, Willemsen MH, Accorsi P, Angriman M, Baier H, Benkel-Herrenbrueck I, Benoit V, Budetta M, Caliebe A, Cantalupo G, Capovilla G, Casara G, Courage C, Deprez M, Destrée A, Dilena R, Erasmus CE, Fannemel M, Fjær R, Giordano L, Helbig KL, Heyne HO, Klepper J, Kluger GJ, Lederer D, Lodi M, Maier O, Merkenschlager A, Michelberger N, Minetti C, Muhle H, Phalin J, Ramsey K, Romeo A, Schallner J, Schanze I, Shinawi M, Sleegers K, Sterbova K, Syrbe S, Traverso M, Tzschach A, Uldall P, Van Coster R, Verhelst H, Viri M, Winter S, Wolff M, Zenker M, Zoccante L, De Jonghe P, Helbig I, Striano P, Lemke JR, Møller RS, Weckhuysen S. Stamberger H, et al. Among authors: erasmus ce. Neurology. 2016 Mar 8;86(10):954-62. doi: 10.1212/WNL.0000000000002457. Epub 2016 Feb 10. Neurology. 2016. PMID: 26865513 Free article. Review.
Bone Quality in Patients with a Congenital Myopathy: A Scoping Review.
Bouman K, Dittrich ATM, Groothuis JT, van Engelen BGM, Janssen MCH, Voermans NC, Draaisma JMT, Erasmus CE. Bouman K, et al. Among authors: erasmus ce. J Neuromuscul Dis. 2023;10(1):1-13. doi: 10.3233/JND-221543. J Neuromuscul Dis. 2023. PMID: 36314217 Free PMC article. Review.
Bone quality in LAMA2-related muscular dystrophy and SELENON-related congenital myopathy, a one-year prospective natural history study.
Bouman K, Dittrich ATM, Groothuis JT, van Engelen BGM, Zweers-van Essen H, de Baaij-Daalmeyer A, Janssen MCH, Erasmus CE, Draaisma JMT, Voermans NC. Bouman K, et al. Among authors: erasmus ce. Neuromuscul Disord. 2024 Jan;34:105-113. doi: 10.1016/j.nmd.2023.11.008. Epub 2023 Dec 2. Neuromuscul Disord. 2024. PMID: 38160563 Free article.
Respiratory features of centronuclear myopathy in the Netherlands.
Bouma S, Cobben N, Bouman K, Gaytant M, van de Biggelaar R, van Doorn J, Reumers SFI, Voet NB, Doorduin J, Erasmus CE, Kamsteeg EJ, Jungbluth H, Wijkstra P, Voermans NC. Bouma S, et al. Among authors: erasmus ce. Neuromuscul Disord. 2023 Jul;33(7):580-588. doi: 10.1016/j.nmd.2023.06.003. Epub 2023 Jun 11. Neuromuscul Disord. 2023. PMID: 37364426 Free article.
96 results