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  1. Article

    Open Access

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

    The histopathological features of malignant hyperthermia (MH) and non-anaesthetic (mostly exertional) rhabdomyolysis (RM) due to RYR1 mutations have only been reported in a few cases.

    G. J. Knuiman, B. Küsters, L. Eshuis, M. Snoeck, M. Lammens… in Journal of Neurology (2019)

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  2. Article

    GLUT1 deficiency syndrome into adulthood: a follow-up study

    GLUT1 deficiency syndrome (GLUT1DS) is a treatable neurometabolic disorder in which glucose transport into the brain is disturbed. Besides the classic phenotype of intellectual disability, epilepsy, and moveme...

    W. G. Leen, M. Taher, M. M. Verbeek, E. J. Kamsteeg… in Journal of Neurology (2014)

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  3. No Access

    Article

    ATL1 and REEP1 mutations in hereditary and sporadic upper motor neuron syndromes

    SPAST mutations are the most common cause of autosomal dominant hereditary spastic paraplegias (AD-HSPs), but many spastic paraplegia patients are found to carry no mutations in this gene. In ord...

    S. T. de Bot, J. H. Veldink, S. Vermeer, A. R. Mensenkamp… in Journal of Neurology (2013)

  4. No Access

    Article

    Functionality of aquaporin-2 missense mutants in recessive nephrogenic diabetes insipidus

    Aquaporin-2 (AQP2) missense mutants in recessive nephrogenic diabetes insipidus (NDI) are all retained in the endoplasmic reticulum (ER), but some could function as water channels. No conclusions could be draw...

    N. Marr, E.J. Kamsteeg, M. van Raak, C.H van Os, P.M.T. Deen in Pflügers Archiv (2001)