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Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias
Cunha, Paulina, Petit, Emilien, Coutelier, Marie, Coarelli, Giulia, Mariotti, Caterina, Faber, Jennifer, Van Gaalen, Judith, Damasio, Joana, Fleszar, Zofia, Tosi, Michele, Rocca, Clarissa, De Michele, Giovanna, Minnerop, Martina, Ewenczyk, Claire, Santorelli, Filippo M., Heinzmann, Anna, Bird, Thomas, Amprosi, Matthias, Indelicato, Elisabetta, Benussi, Alberto, Charles, Perrine, Stendel, Claudia, Romano, Silvia, Scarlato, Marina, Le Ber, Isabelle, Bassi, Maria Teresa, Serrano, Mercedes, Schmitz-Hübsch, Tanja, Doss, Sarah, Van Velzen, Gijs A.J., Thomas, Quentin, Trabacca, Antonio, Ortigoza-Escobar, Juan Dario, D'Arrigo, Stefano, Timmann, Dagmar, Pantaleoni, Chiara, Martinuzzi, Andrea, Besse-Pinot, Elsa, Marsili, Luca, Cioffi, Ettore, Nicita, Francesco, Giorgetti, Alejandro, Moroni, Isabella, Romaniello, Romina, Casali, Carlo, Ponger, Penina, Casari, Giorgio, De Bot, Susanne T., Ristori, Giovanni, Blumkin, Lubov, Borroni, Barbara, Goizet, Cyril, Marelli, Cecilia, Boesch, Sylvia, Anheim, Mathieu, Filla, Alessandro, Houlden, Henry, Bertini, Enrico, Klopstock, Thomas, Synofzik, Matthis, Riant, Florence, Zanni, Ginevra, Magri, Stefania, Di Bella, Daniela, Nanetti, Lorenzo, Sequeiros, Jorge, Oliveira, Jorge, Van de Warrenburg, Bart, Schöls, Ludger, Taroni, Franco, Brice, Alexis, Durr, Alexandra
Published in American journal of human genetics (06.07.2023)
Published in American journal of human genetics (06.07.2023)
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Journal Article
Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism
Gunning, Adam C., Strucinska, Klaudia, Muñoz Oreja, Mikel, Parrish, Andrew, Caswell, Richard, Stals, Karen L., Durigon, Romina, Durlacher-Betzer, Karina, Cunningham, Mitchell H., Grochowski, Christopher M., Baptista, Julia, Tysoe, Carolyn, Baple, Emma, Lahiri, Nayana, Homfray, Tessa, Scurr, Ingrid, Armstrong, Catherine, Dean, John, Fernandez Pelayo, Uxoa, Jones, Aleck W.E., Taylor, Robert W., Misra, Vinod K., Yoon, Wan Hee, Wright, Caroline F., Lupski, James R., Spinazzola, Antonella, Harel, Tamar, Holt, Ian J., Ellard, Sian
Published in American journal of human genetics (06.02.2020)
Published in American journal of human genetics (06.02.2020)
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Journal Article
p‐AKT/VPS4B regulates the small extracellular vesicle size in venous malformation endothelial cells
Lai, Wen‐Qiang, Xia, Hou‐Fu, Chen, Gao‐Hong, Wang, Xiao‐Le, Yang, Jie‐Gang, Wu, Lian‐Zhi, Zhao, Yi‐Fang, Jia, Yu‐Lin, Chen, Gang
Published in Oral diseases (01.04.2024)
Published in Oral diseases (01.04.2024)
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Journal Article
Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus
Frazier, Ann E., Compton, Alison G., Kishita, Yoshihito, Hock, Daniella H., Welch, AnneMarie E., Amarasekera, Sumudu S.C., Rius, Rocio, Formosa, Luke E., Imai-Okazaki, Atsuko, Francis, David, Wang, Min, Lake, Nicole J., Tregoning, Simone, Jabbari, Jafar S., Lucattini, Alexis, Nitta, Kazuhiro R., Ohtake, Akira, Murayama, Kei, Amor, David J., McGillivray, George, Wong, Flora Y., van der Knaap, Marjo S., Vermeulen, R. Jeroen, Wiltshire, Esko J., Fletcher, Janice M., Lewis, Barry, Baynam, Gareth, Ellaway, Carolyn, Balasubramaniam, Shanti, Bhattacharya, Kaustuv, Freckmann, Mary-Louise, Arbuckle, Susan, Rodriguez, Michael, Taft, Ryan J., Sadedin, Simon, Cowley, Mark J., Minoche, André E., Calvo, Sarah E., Mootha, Vamsi K., Ryan, Michael T., Okazaki, Yasushi, Stroud, David A., Simons, Cas, Christodoulou, John, Thorburn, David R.
Published in Med (New York, N.Y. : Online) (15.01.2021)
Published in Med (New York, N.Y. : Online) (15.01.2021)
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Journal Article
Evidence for genetic regulation of the human parieto-occipital 10-Hz rhythmic activity
Salmela, Elina, Renvall, Hanna, Kujala, Jan, Hakosalo, Osmo, Illman, Mia, Vihla, Minna, Leinonen, Eira, Salmelin, Riitta, Kere, Juha
Published in The European journal of neuroscience (01.08.2016)
Published in The European journal of neuroscience (01.08.2016)
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Journal Article
Genome-wide association study of white-coat effect in hypertensive patients
Rimpelä, Jenni M, Niiranen, Teemu, Jula, Antti, Pörsti, Ilkka H, Tikkakoski, Antti, Havulinna, Aki, Lehtimäki, Terho, Salomaa, Veikko, Kontula, Kimmo K, Hiltunen, Timo P
Published in Blood pressure (04.07.2019)
Published in Blood pressure (04.07.2019)
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Journal Article