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SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation
Academic Journal
Marwan Nashabat; Nasrinsadat Nabavizadeh; Hilal Pırıl Saraçoğlu; Burak Sarıbaş; Şahin Avcı; Esra Börklü; Emmanuel Beillard; Elanur Yılmaz; Seyide Ecesu Uygur; Cavit Kerem Kayhan; Luca Bosco; Zeynep Bengi Eren; Katharina Steindl; Manuela Friederike Richter; Guney Bademci; Anita Rauch; Zohreh Fattahi; Maria Lucia Valentino; Anne M. Connolly; Angela Bahr; Laura Viola; Anke Katharina Bergmann; Maria Eugenia Rocha; LeShon Peart; Derly Liseth Castro-Rojas; Eva Bültmann; Suliman Khan; Miriam Liliana Giarrana; Raluca Ioana Teleanu; Joanna Michelle Gonzalez; Antonella Pini; Ines Sophie Schädlich; Katharina Vill; Melanie Brugger; Stephan Zuchner; Andreia Pinto; Sandra Donkervoort; Stephanie Ann Bivona; Anca Riza; Undiagnosed Diseases Network; Ioana Streata; Dieter Gläser; Carolina Baquero-Montoya; Natalia Garcia-Restrepo; Urania Kotzaeridou; Theresa Brunet; Diana Anamaria Epure; Aida Bertoli-Avella; Ariana Kariminejad; Mustafa Tekin; Sandra von Hardenberg; Carsten G. Bönnemann; Georg M. Stettner; Ginevra Zanni; Hülya Kayserili; Zehra Piraye Oflazer; Nathalie Escande-Beillard
Nature Communications, Vol 15, Iss 1, Pp 1-19 (2024)
Academic Journal
Cátia Silva Janota; Andreia Pinto; Anna Pezzarossa; Pedro Machado; Judite Costa; Pedro Campinho; Cláudio A. Franco; Edgar R. Gomes
Nature Communications, Vol 13, Iss 1, Pp 1-13 (2022)
Academic Journal
Laura E. Gardner; Katie L. Horton; Amelia Shoemark; Jane S. Lucas; Kim G. Nielsen; Helene Kobbernagel; Bruna Rubbo; Robert A. Hirst; Panayiotis Kouis; Nicola Ullmann; Ana Reula; Nisreen Rumman; Hannah M. Mitchison; Andreia Pinto; Charlotte Richardson; Anne Schmidt; James Thompson; René Gaupmann; Maciej Dabrowski; Pleasantine Mill; Siobhan B. Carr; Dominic P. Norris; Claudia E. Kuehni; Myrofora Goutaki; Claire Hogg
BMC Proceedings, Vol 14, Iss S8, Pp 1-17 (2020)
Academic Journal
Pedro Sampaio; Mónica Ferro da Silva; Inês Vale; Mónica Roxo-Rosa; Andreia Pinto; Carolina Constant; Luisa Pereira; Carla M. Quintão; Susana S. Lopes
ERJ Open Research, Vol 7, Iss 1 (2021)
Academic Journal
Fábio A. Abade dos Santos; Carina L. Carvalho; Andreia Pinto; Ranjit Rai; Madalena Monteiro; Paulo Carvalho; Paula Mendonça; Maria C. Peleteiro; Francisco Parra; Margarida D. Duarte
Viruses, Vol 12, Iss 10, p 1127 (2020)
Academic Journal
Barbara Tavares; Raquel Jacinto; Pedro Sampaio; Sara Pestana; Andreia Pinto; Andreia Vaz; Mónica Roxo-Rosa; Rui Gardner; Telma Lopes; Britta Schilling; Ian Henry; Leonor Saúde; Susana Santos Lopes
eLife, Vol 6 (2017)
Academic Journal
Jorge M Santos; Saskia Egarter; Vanessa Zuzarte-Luís; Hirdesh Kumar; Catherine A Moreau; Jessica Kehrer; Andreia Pinto; Mário da Costa; Blandine Franke-Fayard; Chris J Janse; Friedrich Frischknecht; Gunnar R Mair
eLife, Vol 6 (2017)
Academic Journal
Andreia Pinto; João Vasco Santos; Júlio Souza; João Viana; Cristina Costa Santos; Mariana Lobo; Alberto Freitas
MDPI, IJERPH. 17(21):1-14
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