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Pathogenic effects of Leu200Pro and Arg387His VRK1 protein variants on phosphorylation targets and H4K16 acetylation in distal hereditary motor neuropathy.
Campos-Díaz A, Morejón-García P, Monte-Serrano E, Ros-Pardo D, Marcos-Alcalde I, Gómez-Puertas P, Lazo PA. Campos-Díaz A, et al. Among authors: marcos alcalde i. J Mol Med (Berl). 2024 Jun;102(6):801-817. doi: 10.1007/s00109-024-02442-8. Epub 2024 Mar 30. J Mol Med (Berl). 2024. PMID: 38554151 Free PMC article.
Things are not always what they seem: From Cornelia de Lange to KBG phenotype in a girl with genetic variants in NIPBL and ANKRD11.
Latorre-Pellicer A, Ascaso Á, Lucia-Campos C, Gil-Salvador M, Arnedo M, Antoñanzas R, Ayerza-Casas A, Marcos-Alcalde I, Gómez-Puertas P, Ramos FJ, Pié J, Puisac B. Latorre-Pellicer A, et al. Among authors: marcos alcalde i. Mol Genet Genomic Med. 2021 Nov;9(11):e1826. doi: 10.1002/mgg3.1826. Epub 2021 Oct 7. Mol Genet Genomic Med. 2021. PMID: 34617417 Free PMC article.
27 results