Atypical presentation of neuronal ceroid lipofuscinosis type 8 in a sibling pair and review of the eye findings and neurological features

por Sanchez, Rossana L., Yan, Jiong, Richards, Sarah, Mierau, Gary, Wartchow, Eric P., Collins, Christin D., Shankar, Suma P.
Publicado 2016

Filamin C Truncation Mutations Are Associated With Arrhythmogenic Dilated Cardiomyopathy and Changes in the Cell–Cell Adhesion Structures

por Begay, Rene L., Graw, Sharon L., Sinagra, Gianfranco, Asimaki, Angeliki, Rowland, Teisha J., Slavov, Dobromir B., Gowan, Katherine, Jones, Kenneth L., Brun, Francesca, Merlo, Marco, Miani, Daniela, Sweet, Mary, Devaraj, Kalpana, Wartchow, Eric P., Gigli, Marta, Puggia, Ilaria, Salcedo, Ernesto E., Garrity, Deborah M., Ambardekar, Amrut V., Buttrick, Peter, Reece, T. Brett, Bristow, Michael R., Saffitz, Jeffrey E., Mestroni, Luisa, Taylor, Matthew R.G.
Publicado 2018

Pathogenic variants in glutamyl-tRNA(Gln) amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder

por Friederich, Marisa W., Timal, Sharita, Powell, Christopher A., Dallabona, Cristina, Kurolap, Alina, Palacios-Zambrano, Sara, Bratkovic, Drago, Derks, Terry G. J., Bick, David, Bouman, Katelijne, Chatfield, Kathryn C., Damouny-Naoum, Nadine, Dishop, Megan K., Falik-Zaccai, Tzipora C., Fares, Fuad, Fedida, Ayalla, Ferrero, Ileana, Gallagher, Renata C., Garesse, Rafael, Gilberti, Micol, González, Cristina, Gowan, Katherine, Habib, Clair, Halligan, Rebecca K., Kalfon, Limor, Knight, Kaz, Lefeber, Dirk, Mamblona, Laura, Mandel, Hanna, Mory, Adi, Ottoson, John, Paperna, Tamar, Pruijn, Ger J. M., Rebelo-Guiomar, Pedro F., Saada, Ann, Sainz, Bruno, Salvemini, Hayley, Schoots, Mirthe H., Smeitink, Jan A., Szukszto, Maciej J., ter Horst, Hendrik J., van den Brandt, Frans, van Spronsen, Francjan J., Veltman, Joris A., Wartchow, Eric, Wintjes, Liesbeth T., Zohar, Yaniv, Fernández-Moreno, Miguel A., Baris, Hagit N., Donnini, Claudia, Minczuk, Michal, Rodenburg, Richard J., Van Hove, Johan L. K.
Publicado 2018