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Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export
Legati, Andrea, Giovannini, Donatella, Nicolas, Gaël, López-Sánchez, Uriel, Quintáns, Beatriz, Oliveira, João R M, Sears, Renee L, Ramos, Eliana Marisa, Spiteri, Elizabeth, Sobrido, María-Jesús, Carracedo, Ángel, Castro-Fernández, Cristina, Cubizolle, Stéphanie, Fogel, Brent L, Goizet, Cyril, Jen, Joanna C, Kirdlarp, Suppachok, Lang, Anthony E, Miedzybrodzka, Zosia, Mitarnun, Witoon, Paucar, Martin, Paulson, Henry, Pariente, Jérémie, Richard, Anne-Claire, Salins, Naomi S, Simpson, Sheila A, Striano, Pasquale, Svenningsson, Per, Tison, François, Unni, Vivek K, Vanakker, Olivier, Wessels, Marja W, Wetchaphanphesat, Suppachok, Yang, Michele, Boller, Francois, Campion, Dominique, Hannequin, Didier, Sitbon, Marc, Geschwind, Daniel H, Battini, Jean-Luc, Coppola, Giovanni
Published in Nature genetics (01.06.2015)
Published in Nature genetics (01.06.2015)
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Journal Article
Treatment of slow-channel congenital myasthenic syndrome in a Thai family with fluoxetine
Dejthevaporn, Charungthai, Wetchaphanphesat, Suppachok, Pulkes, Teeratorn, Rattanasiri, Sasivimol, Engel, Andrew G., Witoonpanich, Rawiphan
Published in Journal of clinical neuroscience (01.02.2022)
Published in Journal of clinical neuroscience (01.02.2022)
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Journal Article
Genetic basis of sudden death after COVID-19 vaccination in Thailand
Ittiwut, Chupong, Mahasirimongkol, Surakameth, Srisont, Smith, Ittiwut, Rungnapa, Chockjamsai, Manoch, Durongkadech, Piya, Sawaengdee, Waritta, Khunphon, Athiwat, Larpadisorn, Kanidsorn, Wattanapokayakit, Sukanya, Wetchaphanphesat, Suppachok, Arunotong, Surachet, Srimahachota, Suphot, Pittayawonganon, Chakrarat, Thammawijaya, Panithee, Sutdan, Derek, Doungngern, Pawinee, Khongphatthanayothin, Apichai, Kerr, Stephen J., Shotelersuk, Vorasuk
Published in Heart rhythm (01.11.2022)
Published in Heart rhythm (01.11.2022)
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Journal Article
Analysis of SCA8, SCA10, SCA12, SCA17 and SCA19 in patients with unknown spinocerebellar ataxia: a Thai multicentre study
Choubtum, Lulin, Witoonpanich, Pirada, Hanchaiphiboolkul, Suchat, Bhidayasiri, Roongroj, Jitkritsadakul, Onanong, Pongpakdee, Sunsanee, Wetchaphanphesat, Suppachok, Boonkongchuen, Pairoj, Pulkes, Teeratorn
Published in BMC neurology (15.09.2015)
Published in BMC neurology (15.09.2015)
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Journal Article
Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification
Hsu, Sandy Chan, Sears, Renee L., Lemos, Roberta R., Quintáns, Beatriz, Huang, Alden, Spiteri, Elizabeth, Nevarez, Lisette, Mamah, Catherine, Zatz, Mayana, Pierce, Kerrie D., Fullerton, Janice M., Adair, John C., Berner, Jon E., Bower, Matthew, Brodaty, Henry, Carmona, Olga, Dobricić, Valerija, Fogel, Brent L., García-Estevez, Daniel, Goldman, Jill, Goudreau, John L., Hopfer, Suellen, Janković, Milena, Jaumà, Serge, Jen, Joanna C., Kirdlarp, Suppachok, Klepper, Joerg, Kostić, Vladimir, Lang, Anthony E., Linglart, Agnès, Maisenbacher, Melissa K., Manyam, Bala V., Mazzoni, Pietro, Miedzybrodzka, Zofia, Mitarnun, Witoon, Mitchell, Philip B., Mueller, Jennifer, Novaković, Ivana, Paucar, Martin, Paulson, Henry, Simpson, Sheila A., Svenningsson, Per, Tuite, Paul, Vitek, Jerrold, Wetchaphanphesat, Suppachok, Williams, Charles, Yang, Michele, Schofield, Peter R., de Oliveira, João R. M., Sobrido, María-Jesús, Geschwind, Daniel H., Coppola, Giovanni
Published in Neurogenetics (01.02.2013)
Published in Neurogenetics (01.02.2013)
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Journal Article
Clinical analysis of adult-onset spinocerebellar ataxias in Thailand
Boonkongchuen, Pairoj, Pongpakdee, Sunsanee, Jindahra, Panitha, Papsing, Chutima, Peerapatmongkol, Powpong, Wetchaphanphesat, Suppachok, Paiboonpol, Supachai, Dejthevaporn, Charungthai, Tanprawate, Surat, Nudsasarn, Angkana, Jariengprasert, Chanchai, Muntham, Dittapol, Ingsathit, Atiporn, Pulkes, Teeratorn
Published in BMC neurology (05.04.2014)
Published in BMC neurology (05.04.2014)
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Journal Article
Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export
Legati, Andrea, Giovannini, Donatella, Nicolas, Gaël, López-Sánchez, Uriel, Quintáns, Beatriz, de Oliveira, João R M, Sears, Renee L, Ramos, Eliana Marisa, Spiteri, Elizabeth, Sobrido, María‐jesús, Carracedo, Ángel M., Castro-Fernández, Cristina, Cubizolle, Stéphanie, Fogel, Brent L., Goizet, Cyril, Jen, Joanna C, Kirdlarp, Suppachok, Lang, Anthony E., Miedzybrodzka, Zosia, Mitarnun, Witoon, Paucar, Martin, Paulson, Henry, Pariente, Jérémie, Richard, Anne-Claire, Salins, Naomi S, Simpson, Sheila, Striano, Pasquale, Svenningsson, Per, Tison, François, Unni, Vivek K, Vanakker, Olivier, Wessels, Marja, Wetchaphanphesat, Suppachok, Yang, Michele, Boller, François, Campion, Dominique, Hannequin, Didier, Sitbon, Marc, Geschwind, Daniel, Battini, Jean-Luc, Coppola, Giovanni
Published in Nature genetics (2015)
Published in Nature genetics (2015)
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Journal Article
Intrafamily phenotypic heterogeneity in a large Thai slow-channel-syndrome kinship
Witoonpanich, Rawiphan, Pulkes, Teeratorn, Dejthevaporn, Charungthai, Yodnopklao, Praphan, Witoonpanich, Pirada, Wetchaphanphesat, Suppachok, Brengman, Joan, Engel, Andrew
Published in Neuromuscular disorders : NMD (01.03.2011)
Published in Neuromuscular disorders : NMD (01.03.2011)
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Journal Article
Phenotypic heterogeneity in a large Thai slow-channel congenital myasthenic syndrome kinship
Witoonpanich, Rawiphan, Pulkes, Teeratorn, Dejthevaporn, Charungthai, Yodnopklao, Praphan, Witoonpanich, Pirada, Wetchaphanphesat, Suppachok, Brengman, Joan M., Engel, Andrew G.
Published in Neuromuscular disorders : NMD (01.03.2011)
Published in Neuromuscular disorders : NMD (01.03.2011)
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Journal Article