Good response to the late treatment with ataluren in a boy with Duchenne muscular dystrophy: could the previous mild course of the disease have affected the outcome?
Acta Myologica : Myopathies And Cardiomyopathies : Official Journal Of The Mediterranean Society Of Myology
Pasca, Ludovica L; Gardani, Alice A; Paoletti, Matteo M; Velardo, Daniele D; Berardinelli, Angela A
Dystrophin Protein Quantification as a Duchenne Muscular Dystrophy Diagnostic Biomarker in Dried Blood Spots Using Multiple Reaction Monitoring Tandem Mass Spectrometry: A Preliminary Study.
Molecules (Basel, Switzerland)
Nimer, Refat M RM; Sumaily, Khalid M KM; Almuslat, Arwa A; Abdel Jabar, Mai M; Sabi, Essa M EM; Al-Muhaizea, Mohammad A MA; Abdel Rahman, Anas M AM
Luce, Leonela L; Carcione, Micaela M; Mazzanti, Chiara C; Buonfiglio, Paula I PI; Dalamón, Viviana V; Mesa, Lilia L; Dubrovsky, Alberto A; Corderí, José J; Giliberto, Florencia F
Publication Date: 2021
Variant appearance in text: DMD: 10141C>T; Arg3381*
Integrated molecular drivers coordinate biological and clinical states in melanoma.
Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
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
MLPA-based genotype-phenotype analysis in 1053 Chinese patients with DMD/BMD.
Bmc Medical Genetics
Yang, Juan J; Li, Shao Y SY; Li, Ya Q YQ; Cao, Ji Q JQ; Feng, Shan W SW; Wang, Yan Y YY; Zhan, Yi X YX; Yu, Chang S CS; Chen, Fei F; Li, Jing J; Sun, Xiao F XF; Zhang, Cheng C
Publication Date: 2013-03-01
Variant appearance in text: DMD: 10141C>T; Arg3381X
Increased selectivity toward cytoplasmic versus mitochondrial ribosome confers improved efficiency of synthetic aminoglycosides in fixing damaged genes: a strategy for treatment of genetic diseases caused by nonsense mutations.
Journal Of Medicinal Chemistry
Kandasamy, Jeyakumar J; Atia-Glikin, Dana D; Shulman, Eli E; Shapira, Katya K; Shavit, Michal M; Belakhov, Valery V; Baasov, Timor T
Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing.
Bmc Medical Genetics
Magri, Francesca F; Del Bo, Roberto R; D'Angelo, Maria G MG; Govoni, Alessandra A; Ghezzi, Serena S; Gandossini, Sandra S; Sciacco, Monica M; Ciscato, Patrizia P; Bordoni, Andreina A; Tedeschi, Silvana S; Fortunato, Francesco F; Lucchini, Valeria V; Cereda, Matteo M; Corti, Stefania S; Moggio, Maurizio M; Bresolin, Nereo N; Comi, Giacomo P GP
Publication Date: 2011-03-11
Variant appearance in text: DMD: 10141C>T; Arg3381X
Mutation analysis in a population-based cohort of boys with Duchenne or Becker muscular dystrophy.
Journal Of Child Neurology
Cunniff, Christopher C; Andrews, Jennifer J; Meaney, F John FJ; Mathews, Katherine D KD; Matthews, Dennis D; Ciafaloni, Emma E; Miller, Timothy M TM; Bodensteiner, John B JB; Miller, Lisa A LA; James, Katherine A KA; Druschel, Charlotte M CM; Romitti, Paul A PA; Pandya, Shree S