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Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy.
Bailey JN, de Nijs L, Bai D, Suzuki T, Miyamoto H, Tanaka M, Patterson C, Lin YC, Medina MT, Alonso ME, Serratosa JM, Durón RM, Nguyen VH, Wight JE, Martínez-Juárez IE, Ochoa A, Jara-Prado A, Guilhoto L, Molina Y, Yacubian EM, López-Ruiz M, Inoue Y, Kaneko S, Hirose S, Osawa M, Oguni H, Fujimoto S, Grisar TM, Stern JM, Yamakawa K, Lakaye B, Delgado-Escueta AV. Bailey JN, et al. Among authors: de nijs l. N Engl J Med. 2018 Mar 15;378(11):1018-1028. doi: 10.1056/NEJMoa1700175. N Engl J Med. 2018. PMID: 29539279 Free article.
EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality.
Bailey JN, Patterson C, de Nijs L, Durón RM, Nguyen VH, Tanaka M, Medina MT, Jara-Prado A, Martínez-Juárez IE, Ochoa A, Molina Y, Suzuki T, Alonso ME, Wight JE, Lin YC, Guilhoto L, Targas Yacubian EM, Machado-Salas J, Daga A, Yamakawa K, Grisar TM, Lakaye B, Delgado-Escueta AV. Bailey JN, et al. Among authors: de nijs l. Genet Med. 2017 Feb;19(2):144-156. doi: 10.1038/gim.2016.86. Epub 2016 Jul 28. Genet Med. 2017. PMID: 27467453 Free article.
Some genetic and biochemical aspects of myoclonus.
Grisar T, de Nijs L, Chanas G, Léon C, Coumans B, Foidart A, Lakaye B. Grisar T, et al. Among authors: de nijs l. Neurophysiol Clin. 2006 Sep-Dec;36(5-6):271-9. doi: 10.1016/j.neucli.2006.11.002. Epub 2006 Dec 5. Neurophysiol Clin. 2006. PMID: 17336771 Review.
Distribution of EFHC1 or Myoclonin 1 in mouse neural structures.
Léon C, de Nijs L, Chanas G, Delgado-Escueta AV, Grisar T, Lakaye B. Léon C, et al. Among authors: de nijs l. Epilepsy Res. 2010 Feb;88(2-3):196-207. doi: 10.1016/j.eplepsyres.2009.11.009. Epub 2009 Dec 16. Epilepsy Res. 2010. PMID: 20015616 Free article.
34 results