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A cross-sectional study in 18 patients with typical and mild forms of nemaline myopathy in the Netherlands.
van Kleef ESB, van de Camp SAJH, Groothuis JT, Erasmus CE, Gaytant MA, Vosse BAH, de Weerd W, Verschuuren-Bemelmans CC, Medici-Van den Herik EG, Wallgren-Pettersson C, Küsters B, Schouten M, van Engelen BGM, Ottenheijm CAC, Doorduin J, Voermans NC. van Kleef ESB, et al. Among authors: medici van den herik eg. Neuromuscul Disord. 2024 Oct;43:29-38. doi: 10.1016/j.nmd.2024.08.001. Epub 2024 Aug 3. Neuromuscul Disord. 2024. PMID: 39180840 Free article.
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: medici van den herik eg. 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.
Arterioectatic Spinal Angiopathy of Childhood: Clinical, Imaging, Laboratory, Histologic, and Genetic Description of a Novel CNS Vascular Pathology.
Abruzzo T, van den Berg R, Vadivelu S, Hetts SW, Dishop M, Cornejo P, Narayanan V, Ramsey KE, Coopwood C, Medici-van den Herik EG, Roosendaal SD, Lawton M, Bernes S. Abruzzo T, et al. Among authors: medici van den herik eg. AJNR Am J Neuroradiol. 2022 Jul;43(7):1060-1067. doi: 10.3174/ajnr.A7551. Epub 2022 Jun 30. AJNR Am J Neuroradiol. 2022. PMID: 35772802 Free PMC article.
Prevalence of Bladder and Bowel Dysfunction in Duchenne Muscular Dystrophy Using the Childhood Bladder and Bowel Dysfunction Questionnaire.
Lionarons JM, de Groot IJM, Fock JM, Klinkenberg S, Vrijens DMJ, Vreugdenhil ACE, Medici-van den Herik EG, Cuppen I, Jaeger B, Niks EH, Hoogerhuis R, Platte-van Attekum N, Feron FJM, Faber CG, Hendriksen JGM, Vles JSH. Lionarons JM, et al. Among authors: medici van den herik eg. Life (Basel). 2021 Jul 30;11(8):772. doi: 10.3390/life11080772. Life (Basel). 2021. PMID: 34440515 Free PMC article.