A Novel Loss-of-Sclerostin Function Mutation in a First Egyptian Family with Sclerosteosis

by Alaaeldin Fayez, Mona Aglan, Nora Esmaiel, Taher El Zanaty, Mohamed Abdel Kader, Mona El Ruby
Published 2015-01-01

Cellular stress due to impairment of collagen prolyl hydroxylation complex is rescued by the chaperone 4-phenylbutyrate

by Roberta Besio, Nadia Garibaldi, Laura Leoni, Lina Cipolla, Simone Sabbioneda, Marco Biggiogera, Monica Mottes, Mona Aglan, Ghada A. Otaify, Samia A. Temtamy, Antonio Rossi, Antonella Forlino
Published 2019-06-01

Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy

by María Cristina Estañ, Elisa Fernández-Núñez, Maha S. Zaki, María Isabel Esteban, Sandra Donkervoort, Cynthia Hawkins, José A. Caparros-Martin, Dimah Saade, Ying Hu, Véronique Bolduc, Katherine Ru-Yui Chao, Julián Nevado, Ana Lamuedra, Raquel Largo, Gabriel Herrero-Beaumont, Javier Regadera, Concepción Hernandez-Chico, Eduardo F. Tizzano, Victor Martinez-Glez, Jaime J. Carvajal, Ruiting Zong, David L. Nelson, Ghada A. Otaify, Samia Temtamy, Mona Aglan, Mahmoud Issa, Carsten G. Bönnemann, Pablo Lapunzina, Grace Yoon, Victor L. Ruiz-Perez
Published 2019-02-01