CCG•CGG interruptions in high‐penetrance SCA8 families increase RAN translation and protein toxicity

por Perez, Barbara A, Shorrock, Hannah K, Banez‐Coronel, Monica, Zu, Tao, Romano, Lisa EL, Laboissonniere, Lauren A, Reid, Tammy, Ikeda, Yoshio, Reddy, Kaalak, Gomez, Christopher M, Bird, Thomas, Ashizawa, Tetsuo, Schut, Lawrence J, Brusco, Alfredo, Berglund, J Andrew, Hasholt, Lis F, Nielsen, Jorgen E, Subramony, SH, Ranum, Laura PW
Publicado 2021

Correction: Systematic cascade screening in the Danish Fabry Disease Centre: 20 years of a national single-centre experience

por Effraimidis, Grigoris, Rasmussen, Åse Krogh, Dunoe, Morten, Hasholt, Lis F., Wibrand, Flemming, Sorensen, Soren S, Lund, Allan M., Kober, Lars, Bundgaard, Henning, Yazdanfard, Puriya D. W., Oturai, Peter, Larsen, Vibeke A., de Abreu, Victor Hugo Fraga, Enevoldsen, Lotte Hahn, Kristensen, Tatiana, Svenstrup, Kirsten, Bille, Margrethe Bastholm, Arif, Farah, Mogensen, Mette, Klokker, Mads, Backer, Vibeke, Kistorp, Caroline, Feldt-Rasmussen, Ulla
Publicado 2023

Systematic cascade screening in the Danish Fabry Disease Centre: 20 years of a national single-centre experience

por Effraimidis, Grigoris, Rasmussen, Åse Krogh, Dunoe, Morten, Hasholt, Lis F., Wibrand, Flemming, Sorensen, Soren S., Lund, Allan M., Kober, Lars, Bundgaard, Henning, Yazdanfard, Puriya D. W., Oturai, Peter, Larsen, Vibeke A., de Abreu, Vitor Hugo Fraga, Enevoldsen, Lotte Hahn, Kristensen, Tatiana, Svenstrup, Kirsten, Bille, Margrethe Bastholm, Arif, Farah, Mogensen, Mette, Klokker, Mads, Backer, Vibeke, Kistorp, Caroline, Feldt-Rasmussen, Ulla
Publicado 2022