Publications:

2-Guanidino-quinazoline promotes the readthrough of nonsense mutations underlying human genetic diseases.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Bidou, Laure L; Bugaud, Olivier O; Merer, Goulven G; Coupet, Matthieu M; Hatin, Isabelle I; Chirkin, Egor E; Karri, Sabrina S; Demais, Stéphane S; François, Pauline P; Cintrat, Jean-Christophe JC; Namy, Olivier O

Publication Date: 2022-08-30

Variant appearance in text: DMD: L654X

PubMed Link: 35994666

Variant Present in the following documents:

• pnas.2122004119.sapp.pdf

View BVdb publication page

Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries.

Neurology. Genetics

Selvatici, Rita R; Rossi, Rachele R; Fortunato, Fernanda F; Trabanelli, Cecilia C; Sifi, Yamina Y; Margutti, Alice A; Neri, Marcella M; Gualandi, Francesca F; Szabò, Lena L; Fekete, Balint B; Angelova, Lyudmilla L; Litvinenko, Ivan I; Ivanov, Ivan I; Vildan, Yurtsever Y; Iuhas, Oana Alexandra OA; Vintan, Mihaela M; Burloiu, Carmen C; Lacramioara, Butnariu B; Visa, Gabriela G; Epure, Diana D; Rusu, Cristina C; Vasile, Daniela D; Sandu, Magdalena M; Vlodavets, Dmitry D; Mager, Monica M; Kyriakides, Theodore T; Delin, Sanja S; Lehman, Ivan I; Fureš, Jadranka Sekelj JS; Bojinova, Veneta V; Militaru, Mariela M; Guergueltcheva, Velina V; Burnyte, Birute B; Molnar, Maria Judith MJ; Butoianu, Niculina N; Bensemmane, Selma Dounia SD; Makri-Mokrane, Samira S; Herczegfalvi, Agnes A; Panzaru, Monica M; Emandi, Adela Chirita AC; Lusakowska, Anna A; Potulska-Chromik, Anna A; Kostera-Pruszczyk, Anna A; Shatillo, Andriy A; Khelladi, Djawed Bouchenak DB; Dendane, Oussama O; Fang, Mingyan M; Lu, Zhiyuan Z; Ferlini, Alessandra A

Publication Date: 2021-02

Variant appearance in text: DMD: 1961T>G; Leu654*

PubMed Link: 33376799

Variant Present in the following documents:

• NG2020014407.pdf

View BVdb publication page

Phase 2a study of ataluren-mediated dystrophin production in patients with nonsense mutation Duchenne muscular dystrophy.

Plos One

Finkel, Richard S RS; Flanigan, Kevin M KM; Wong, Brenda B; Bönnemann, Carsten C; Sampson, Jacinda J; Sweeney, H Lee HL; Reha, Allen A; Northcutt, Valerie J VJ; Elfring, Gary G; Barth, Jay J; Peltz, Stuart W SW

Publication Date: 2013

Variant appearance in text: DMD: L654X

PubMed Link: 24349052

Variant Present in the following documents:

• Main text
• pone.0081302.pdf

View BVdb publication page