L. Eshuis

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

A.A.W.M. Gabreëls‐Festen, Sylvia E. C. van Beersum, L. Eshuis et al. · Journal of Neurology Neurosurgery & Psychiatry · 1999 · 86 citations · Full text

Life Sciences, Genetics, Neurology +14

Human Intellectual Disability Genes Form Conserved Functional Modules in Drosophila

Merel A.W. Oortveld, Shivakumar Keerthikumar, Martin Oti et al. · PLoS Genetics · 2013 · 55 citations · Full text

Life Sciences, Genetics, Neuroscience +17

The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations

G. J. Knuiman, Benno Küsters, L. Eshuis et al. · Journal of Neurology · 2019 · 38 citations · Full text

Medicine, Molecular Genetics, Pathology +13

Mild Muscular Features in Tenascin-X Knockout Mice, A Model of Ehlers–Danlos Syndrome

Nicol C. Voermans, Kiek Verrijp, L. Eshuis et al. · Connective Tissue Research · 2011 · 27 citations · Full text

Medicine, Genetics, Pathology +17

NEM6, KBTBD13-Related Congenital Myopathy: Myopathological Analysis in 18 Dutch Patients Reveals Ring Rods Fibers, Cores, Nuclear Clumps, and Granulo-Filamentous Protein Material

Karlijn Bouman, Benno Küsters, Josine M. de Winter et al. · Journal of Neuropathology & Experimental Neurology · 2021 · 12 citations · Full text

Medicine, Pathobiology, Pathology +17