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TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes.
Curiel J, Rodríguez Bey G, Takanohashi A, Bugiani M, Fu X, Wolf NI, Nmezi B, Schiffmann R, Bugaighis M, Pierson T, Helman G, Simons C, van der Knaap MS, Liu J, Padiath Q, Vanderver A. Curiel J, et al. Among authors: liu j. Hum Mol Genet. 2017 Nov 15;26(22):4506-4518. doi: 10.1093/hmg/ddx338. Hum Mol Genet. 2017. PMID: 28973395 Free PMC article.
UFM1 founder mutation in the Roma population causes recessive variant of H-ABC.
Hamilton EMC, Bertini E, Kalaydjieva L, Morar B, Dojčáková D, Liu J, Vanderver A, Curiel J, Persoon CM, Diodato D, Pinelli L, van der Meij NL, Plecko B, Blaser S, Wolf NI, Waisfisz Q, Abbink TEM, van der Knaap MS; Recessive H-ABC Research Group. Hamilton EMC, et al. Among authors: liu j. Neurology. 2017 Oct 24;89(17):1821-1828. doi: 10.1212/WNL.0000000000004578. Epub 2017 Sep 20. Neurology. 2017. PMID: 28931644 Free PMC article.
Loss of CLOCK Results in Dysfunction of Brain Circuits Underlying Focal Epilepsy.
Li P, Fu X, Smith NA, Ziobro J, Curiel J, Tenga MJ, Martin B, Freedman S, Cea-Del Rio CA, Oboti L, Tsuchida TN, Oluigbo C, Yaun A, Magge SN, O'Neill B, Kao A, Zelleke TG, Depositario-Cabacar DT, Ghimbovschi S, Knoblach S, Ho CY, Corbin JG, Goodkin HP, Vicini S, Huntsman MM, Gaillard WD, Valdez G, Liu JS. Li P, et al. Among authors: liu js. Neuron. 2017 Oct 11;96(2):387-401.e6. doi: 10.1016/j.neuron.2017.09.044. Neuron. 2017. PMID: 29024662 Free PMC article.
Stopping the Clock on Seizures!
Fu X, Liu JS, Li P. Fu X, et al. Trends Neurosci. 2021 Jun;44(6):422-423. doi: 10.1016/j.tins.2021.04.002. Epub 2021 May 6. Trends Neurosci. 2021. PMID: 33965214
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