Biblio
2023
Deng R, Medico-Salsench E, Nikoncuk A, Ramakrishnan R, Lanko K, Kühn NA, van der Linde HC, Lor-Zade S, Albuainain F, Shi Y, et al. AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model. Acta Neuropathol. 2023.
Claus LR, Chen C, Stallworth J, Turner JL, Slaats G, Hawks AL, Mabillard H, Senum SR, Srikanth S, Flanagan-Steet H, et al. Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease. Kidney Int. 2023.
O'Neill MJ, Chen SNee, Rumping L, Johnson R, van Slegtenhorst M, Glazer AM, Yang T, Solus JF, Laudeman J, Mitchell DW, et al. Multicenter Clinical and Functional Evidence Reclassifies a Recurrent Non-canonical Filamin C Splice-altering Variant. Heart Rhythm. 2023.