Loss-of-Function Mutations in APPL1 in Familial Diabetes Mellitus
Prudente, Sabrina, Jungtrakoon, Prapaporn, Marucci, Antonella, Ludovico, Ornella, Buranasupkajorn, Patinut, Mazza, Tommaso, Hastings, Timothy, Milano, Teresa, Morini, Eleonora, Mercuri, Luana, Bailetti, Diego, Mendonca, Christine, Alberico, Federica, Basile, Giorgio, Romani, Marta, Miccinilli, Elide, Pizzuti, Antonio, Carella, Massimo, Barbetti, Fabrizio, Pascarella, Stefano, Marchetti, Piero, Trischitta, Vincenzo, Di Paola, Rosa, Doria, Alessandro
Published in American journal of human genetics (02.07.2015)
Published in American journal of human genetics (02.07.2015)
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RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy
Reyes, Aurelio, Melchionda, Laura, Nasca, Alessia, Carrara, Franco, Lamantea, Eleonora, Zanolini, Alice, Lamperti, Costanza, Fang, Mingyan, Zhang, Jianguo, Ronchi, Dario, Bonato, Sara, Fagiolari, Gigliola, Moggio, Maurizio, Ghezzi, Daniele, Zeviani, Massimo
Published in American journal of human genetics (02.07.2015)
Published in American journal of human genetics (02.07.2015)
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Gain of Function of Malate Dehydrogenase 2 and Familial Hyperglycemia
Jungtrakoon Thamtarana, Prapaporn, Marucci, Antonella, Pannone, Luca, Bonnefond, Amélie, Pezzilli, Serena, Biagini, Tommaso, Buranasupkajorn, Patinut, Hastings, Timothy, Mendonca, Christine, Marselli, Lorella, Di Paola, Rosa, Abubakar, Zuroida, Mercuri, Luana, Alberico, Federica, Flex, Elisabetta, Ceròn, Julian, Porta-de-la-Riva, Montserrat, Ludovico, Ornella, Carella, Massimo, Martinelli, Simone, Marchetti, Piero, Mazza, Tommaso, Froguel, Philippe, Trischitta, Vincenzo, Doria, Alessandro, Prudente, Sabrina
Published in The journal of clinical endocrinology and metabolism (01.03.2022)
Published in The journal of clinical endocrinology and metabolism (01.03.2022)
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Journal Article
Loss-of-Function Mutation in Thiamine Transporter 1 in a Family With Autosomal Dominant Diabetes
Jungtrakoon, Prapaporn, Shirakawa, Jun, Buranasupkajorn, Patinut, Gupta, Manoj K, De Jesus, Dario F, Pezzolesi, Marcus G, Panya, Aussara, Hastings, Timothy, Chanprasert, Chutima, Mendonca, Christine, Kulkarni, Rohit N, Doria, Alessandro
Published in Diabetes (New York, N.Y.) (01.05.2019)
Published in Diabetes (New York, N.Y.) (01.05.2019)
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Genetic Predictors of Cardiovascular Mortality During Intensive Glycemic Control in Type 2 Diabetes: Findings From the ACCORD Clinical Trial
Shah, Hetal S, Gao, He, Morieri, Mario Luca, Skupien, Jan, Marvel, Skylar, Paré, Guillaume, Mannino, Gaia C, Buranasupkajorn, Patinut, Mendonca, Christine, Hastings, Timothy, Marcovina, Santica M, Sigal, Ronald J, Gerstein, Hertzel C, Wagner, Michael J, Motsinger-Reif, Alison A, Buse, John B, Kraft, Peter, Mychaleckyj, Josyf C, Doria, Alessandro
Published in Diabetes care (01.11.2016)
Published in Diabetes care (01.11.2016)
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Malate Dehydrogenase 2 (MDH2) as a New Diabetogene Causing Hyperglycemia in Families with Multigenerational Diabetes
JUNGTRAKOON, PRAPAPORN, PEZZILLI, SERENA, PEZZILLI, ANTONELLA, PANNONE, LUCA, FLEX, ELISABETTA, BIAGINI, TOMMASO, BURANASUPKAJORN, PATINUT, LUDOVICO, ORNELLA, MERCURI, LUANA, HASTINGS, TIMOTHY, PAOLA, ROSA DI, ALBERICO, FEDERICA, MENDONCA, CHRISTINE, CERON, JULIAN, PORTA DE LA RIVA, MONTSERRAT, MARSELLI, LORELLA, MAZZA, TOMMASO, MARTINELLI, SIMONE, TRISCHITTA, VINCENZO, DORIA, ALESSANDRO, PRUDENTE, SABRINA
Published in Diabetes (New York, N.Y.) (01.07.2018)
Published in Diabetes (New York, N.Y.) (01.07.2018)
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Journal Article
Infrequent TRIB3 coding variants and coronary artery disease in type 2 diabetes
Prudente, Sabrina, Bailetti, Diego, Mendonca, Christine, Mannino, Gaia Chiara, Fontana, Andrea, Andreozzi, Francesco, Hastings, Timothy, Mercuri, Luana, Alberico, Federica, Basile, Giorgio, Copetti, Massimiliano, Sesti, Giorgio, Doria, Alessandro, Trischitta, Vincenzo
Published in Atherosclerosis (01.09.2015)
Published in Atherosclerosis (01.09.2015)
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Joint effect of insulin signaling genes on all-cause mortality
Menzaghi, Claudia, Fontana, Andrea, Copetti, Massimiliano, Rizza, Stefano, Spoto, Belinda, Buranasupkajorn, Patinut, Tripepi, Giovanni, Marucci, Antonella, Bailetti, Diego, Hastings, Timothy, Testa, Alessandra, Mendonca, Christine, Mallamaci, Francesca, De Cosmo, Salvatore, Bacci, Simonetta, Federici, Massimo, Doria, Alessandro, Zoccali, Carmine, Trischitta, Vincenzo
Published in Atherosclerosis (01.12.2014)
Published in Atherosclerosis (01.12.2014)
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