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Page 1
Human intellectual disability genes form conserved functional modules in Drosophila.
Oortveld MA, Keerthikumar S, Oti M, Nijhof B, Fernandes AC, Kochinke K, Castells-Nobau A, van Engelen E, Ellenkamp T, Eshuis L, Galy A, van Bokhoven H, Habermann B, Brunner HG, Zweier C, Verstreken P, Huynen MA, Schenck A. Oortveld MA, et al. Among authors: eshuis l. PLoS Genet. 2013 Oct;9(10):e1003911. doi: 10.1371/journal.pgen.1003911. Epub 2013 Oct 31. PLoS Genet. 2013. PMID: 24204314 Free PMC article.
Mild muscular features in tenascin-X knockout mice, a model of Ehlers-danlos syndrome.
Voermans NC, Verrijp K, Eshuis L, Balemans MC, Egging D, Sterrenburg E, van Rooij IA, van der Laak JA, Schalkwijk J, van der Maarel SM, Lammens M, van Engelen BG. Voermans NC, et al. Among authors: eshuis l. Connect Tissue Res. 2011 Oct;52(5):422-32. doi: 10.3109/03008207.2010.551616. Epub 2011 Mar 15. Connect Tissue Res. 2011. PMID: 21405982
Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33.
Gabreëls-Festen A, van Beersum S, Eshuis L, LeGuern E, Gabreëls F, van Engelen B, Mariman E. Gabreëls-Festen A, et al. Among authors: eshuis l. J Neurol Neurosurg Psychiatry. 1999 May;66(5):569-74. doi: 10.1136/jnnp.66.5.569. J Neurol Neurosurg Psychiatry. 1999. PMID: 10209165 Free PMC article.
The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations.
Knuiman GJ, Küsters B, Eshuis L, Snoeck M, Lammens M, Heytens L, De Ridder W, Baets J, Scalco RS, Quinlivan R, Holton J, Bodi I, Wraige E, Radunovic A, von Landenberg C, Reimann J, Kamsteeg EJ, Sewry C, Jungbluth H, Voermans NC. Knuiman GJ, et al. Among authors: eshuis l. J Neurol. 2019 Apr;266(4):876-887. doi: 10.1007/s00415-019-09209-z. Epub 2019 Feb 20. J Neurol. 2019. PMID: 30788618 Free PMC article.
NEM6, KBTBD13-Related Congenital Myopathy: Myopathological Analysis in 18 Dutch Patients Reveals Ring Rods Fibers, Cores, Nuclear Clumps, and Granulo-Filamentous Protein Material.
Bouman K, Küsters B, De Winter JM, Gillet C, Van Kleef ESB, Eshuis L, Brochier G, Madelaine A, Labasse C, Boulogne C, Van Engelen BGM, Ottenheijm CAC, Romero NB, Voermans NC, Malfatti E. Bouman K, et al. Among authors: eshuis l. J Neuropathol Exp Neurol. 2021 Mar 22;80(4):366-376. doi: 10.1093/jnen/nlab012. J Neuropathol Exp Neurol. 2021. PMID: 33693846
Ethnic Differences in Health Literacy Among Young Adults in Amsterdam.
Blom IM, Cohen ES, Eshuis LV, Woudstra AJ, Snijder MB, Kunst AE, Fransen MP. Blom IM, et al. Among authors: eshuis lv. Health Lit Res Pract. 2018 Nov 5;2(4):e192-e204. doi: 10.3928/24748307-20180926-01. eCollection 2018 Oct. Health Lit Res Pract. 2018. PMID: 31294295 Free PMC article.
CEP89 is required for mitochondrial metabolism and neuronal function in man and fly.
van Bon BW, Oortveld MA, Nijtmans LG, Fenckova M, Nijhof B, Besseling J, Vos M, Kramer JM, de Leeuw N, Castells-Nobau A, Asztalos L, Viragh E, Ruiter M, Hofmann F, Eshuis L, Collavin L, Huynen MA, Asztalos Z, Verstreken P, Rodenburg RJ, Smeitink JA, de Vries BB, Schenck A. van Bon BW, et al. Among authors: eshuis l. Hum Mol Genet. 2013 Aug 1;22(15):3138-51. doi: 10.1093/hmg/ddt170. Epub 2013 Apr 10. Hum Mol Genet. 2013. PMID: 23575228