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Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.
Hsu SC, Sears RL, Lemos RR, Quintáns B, Huang A, Spiteri E, Nevarez L, Mamah C, Zatz M, Pierce KD, Fullerton JM, Adair JC, Berner JE, Bower M, Brodaty H, Carmona O, Dobricić V, Fogel BL, García-Estevez D, Goldman J, Goudreau JL, Hopfer S, Janković M, Jaumà S, Jen JC, Kirdlarp S, Klepper J, Kostić V, Lang AE, Linglart A, Maisenbacher MK, Manyam BV, Mazzoni P, Miedzybrodzka Z, Mitarnun W, Mitchell PB, Mueller J, Novaković I, Paucar M, Paulson H, Simpson SA, Svenningsson P, Tuite P, Vitek J, Wetchaphanphesat S, Williams C, Yang M, Schofield PR, de Oliveira JR, Sobrido MJ, Geschwind DH, Coppola G. Hsu SC, et al. Among authors: wetchaphanphesat s. Neurogenetics. 2013 Feb;14(1):11-22. doi: 10.1007/s10048-012-0349-2. Epub 2013 Jan 20. Neurogenetics. 2013. PMID: 23334463 Free PMC article.
Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export.
Legati A, Giovannini D, Nicolas G, López-Sánchez U, Quintáns B, Oliveira JR, Sears RL, Ramos EM, Spiteri E, Sobrido MJ, Carracedo Á, Castro-Fernández C, Cubizolle S, Fogel BL, Goizet C, Jen JC, Kirdlarp S, Lang AE, Miedzybrodzka Z, Mitarnun W, Paucar M, Paulson H, Pariente J, Richard AC, Salins NS, Simpson SA, Striano P, Svenningsson P, Tison F, Unni VK, Vanakker O, Wessels MW, Wetchaphanphesat S, Yang M, Boller F, Campion D, Hannequin D, Sitbon M, Geschwind DH, Battini JL, Coppola G. Legati A, et al. Among authors: wetchaphanphesat s. Nat Genet. 2015 Jun;47(6):579-81. doi: 10.1038/ng.3289. Epub 2015 May 4. Nat Genet. 2015. PMID: 25938945 Free PMC article.
Clinical analysis of adult-onset spinocerebellar ataxias in Thailand.
Boonkongchuen P, Pongpakdee S, Jindahra P, Papsing C, Peerapatmongkol P, Wetchaphanphesat S, Paiboonpol S, Dejthevaporn C, Tanprawate S, Nudsasarn A, Jariengprasert C, Muntham D, Ingsathit A, Pulkes T. Boonkongchuen P, et al. Among authors: wetchaphanphesat s. BMC Neurol. 2014 Apr 5;14:75. doi: 10.1186/1471-2377-14-75. BMC Neurol. 2014. PMID: 24708620 Free PMC article.
Genetic basis of sudden death after COVID-19 vaccination in Thailand.
Ittiwut C, Mahasirimongkol S, Srisont S, Ittiwut R, Chockjamsai M, Durongkadech P, Sawaengdee W, Khunphon A, Larpadisorn K, Wattanapokayakit S, Wetchaphanphesat S, Arunotong S, Srimahachota S, Pittayawonganon C, Thammawijaya P, Sutdan D, Doungngern P, Khongphatthanayothin A, Kerr SJ, Shotelersuk V. Ittiwut C, et al. Among authors: wetchaphanphesat s. Heart Rhythm. 2022 Nov;19(11):1874-1879. doi: 10.1016/j.hrthm.2022.07.019. Epub 2022 Aug 5. Heart Rhythm. 2022. PMID: 35934244 Free PMC article.