Cerebrotendinous Xanthomatosis: The Spectrum of Imaging Findings and the Correlation with Neuropathologic FindingsFrederik Barkhof, Jaap Valk, Aad Verrips et al.|Radiology|2000Cited by 184
Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with CoresNyamkhishig Sambuughin, Lev G. Goldfarb, Kathryn N. North et al.|The American Journal of Human Genetics|2010Cited by 159
Comparison of weakness progression in inclusion body myositis during treatment with methotrexate or placeboUmesh A. Badrising, Axel R. Wintzen, Marion L. C. Maat–Schieman et al.|Annals of Neurology|2002Cited by 132
Mutation‐specific effects on thin filament length in thin filament myopathyJosine M. de Winter, Coen A. C. Ottenheijm, Barbara Joureau et al.|Annals of Neurology|2016Cited by 72
KBTBD13 is an actin-binding protein that modulates muscle kineticsJosine M. de Winter, Coen A. C. Ottenheijm, J. Molenaar et al.|Journal of Clinical Investigation|2019Cited by 43