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116 results

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Page 1
Identification and mutational analysis of candidate genes for juvenile myoclonic epilepsy on 6p11-p12: LRRC1, GCLC, KIAA0057 and CLIC5.
Suzuki T, Morita R, Sugimoto Y, Sugawara T, Bai DS, Alonso ME, Medina MT, Bailey JN, Rasmussen A, Ramos-Peek J, Cordova S, Rubio-Donnadieu F, Ochoa A, Jara-Prado A, Inazawa J, Delgado-Escueta AV, Yamakawa K. Suzuki T, et al. Among authors: bai ds. Epilepsy Res. 2002 Aug;50(3):265-75. doi: 10.1016/s0920-1211(02)00052-9. Epilepsy Res. 2002. PMID: 12200217
Mutations in EFHC1 cause juvenile myoclonic epilepsy.
Suzuki T, Delgado-Escueta AV, Aguan K, Alonso ME, Shi J, Hara Y, Nishida M, Numata T, Medina MT, Takeuchi T, Morita R, Bai D, Ganesh S, Sugimoto Y, Inazawa J, Bailey JN, Ochoa A, Jara-Prado A, Rasmussen A, Ramos-Peek J, Cordova S, Rubio-Donnadieu F, Inoue Y, Osawa M, Kaneko S, Oguni H, Mori Y, Yamakawa K. Suzuki T, et al. Nat Genet. 2004 Aug;36(8):842-9. doi: 10.1038/ng1393. Epub 2004 Jul 18. Nat Genet. 2004. PMID: 15258581
Mutation analyses of genes on 6p12-p11 in patients with juvenile myoclonic epilepsy.
Suzuki T, Delgado-Escueta AV, Alonso ME, Morita R, Okamura N, Sugimoto Y, Bai D, Medina MT, Bailey JN, Rasmussen A, Ramos-Peek J, Cordova S, Rubio-Donnadieu F, Ochoa A, Jara-Prado A, Inazawa J, Yamakawa K. Suzuki T, et al. Neurosci Lett. 2006 Sep 11;405(1-2):126-31. doi: 10.1016/j.neulet.2006.06.038. Epub 2006 Jul 28. Neurosci Lett. 2006. PMID: 16876319
Juvenile myoclonic epilepsy: linkage to chromosome 6p12 in Mexico families.
Bai D, Alonso ME, Medina MT, Bailey JN, Morita R, Cordova S, Rasmussen A, Ramos-Peek J, Ochoa A, Jara A, Donnadieu FR, Cadena G, Yamakawa K, Delgado-Escueta AV. Bai D, et al. Am J Med Genet. 2002 Dec 1;113(3):268-74. doi: 10.1002/ajmg.10724. Am J Med Genet. 2002. PMID: 12439895
Recent developments in the quest for myoclonic epilepsy genes.
Delgado-Escueta AV, Perez-Gosiengfiao KB, Bai D, Bailey J, Medina MT, Morita R, Suzuki T, Ganesh S, Sugimoto T, Yamakawa K, Ochoa A, Jara-Prado A, Rasmussen A, Ramos-Peek J, Cordova S, Rubio-Donnadieu F, Alonso ME. Delgado-Escueta AV, et al. Epilepsia. 2003;44 Suppl 11:13-26. doi: 10.1046/j.1528-1157.44.s11.2.x. Epilepsia. 2003. PMID: 14641567 Free article. Review.
DNA variants in coding region of EFHC1: SNPs do not associate with juvenile myoclonic epilepsy.
Bai D, Bailey JN, Durón RM, Alonso ME, Medina MT, Martínez-Juárez IE, Suzuki T, Machado-Salas J, Ramos-Ramírez R, Tanaka M, Ortega RH, López-Ruiz M, Rasmussen A, Ochoa A, Jara-Prado A, Yamakawa K, Delgado-Escueta AV. Bai D, et al. Epilepsia. 2009 May;50(5):1184-90. doi: 10.1111/j.1528-1167.2008.01762.x. Epilepsia. 2009. PMID: 18823326 Free PMC article.
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. N Engl J Med. 2018 Mar 15;378(11):1018-1028. doi: 10.1056/NEJMoa1700175. N Engl J Med. 2018. PMID: 29539279 Free article.
Familial juvenile myoclonic epilepsy.
Alonso ME, Medina MT, Martínez-Juárez IE, Durón RM, Bailey JN, López-Ruiz M, Ramos-Ramírez R, Ochoa-Morales A, Jara-Prado A, Rasmussen-Almarez A, León L, Pineda G, Castroviejo IP, Khan S, Silva R, Mija L, Portilla L, Bai D, Perez-Gosiengfiao KT, Machado-Salas J, Delgado-Escueta AV. Alonso ME, et al. Adv Neurol. 2005;95:227-43. Adv Neurol. 2005. PMID: 15508926 No abstract available.
Genetics of idiopathic myoclonic epilepsies: an overview.
Delgado-Escueta AV, Medina MT, Bai DS, Fong CY, Tanaka M, Alonso ME. Delgado-Escueta AV, et al. Among authors: bai ds. Adv Neurol. 2002;89:161-84. Adv Neurol. 2002. PMID: 11968442 Review. No abstract available.
Targeted disruption of the Epm2a gene causes formation of Lafora inclusion bodies, neurodegeneration, ataxia, myoclonus epilepsy and impaired behavioral response in mice.
Ganesh S, Delgado-Escueta AV, Sakamoto T, Avila MR, Machado-Salas J, Hoshii Y, Akagi T, Gomi H, Suzuki T, Amano K, Agarwala KL, Hasegawa Y, Bai DS, Ishihara T, Hashikawa T, Itohara S, Cornford EM, Niki H, Yamakawa K. Ganesh S, et al. Among authors: bai ds. Hum Mol Genet. 2002 May 15;11(11):1251-62. doi: 10.1093/hmg/11.11.1251. Hum Mol Genet. 2002. PMID: 12019206
116 results