Publications:

Long term treatment with ataluren-the Swedish experience.

Bmc Musculoskeletal Disorders

Michael, Eva E; Sofou, Kalliopi K; Wahlgren, Lisa L; Kroksmark, Anna-Karin AK; Tulinius, Már M

Publication Date: 2021-09-30

Variant appearance in text: DMD: Ser861*

PubMed Link: 34592975

Variant Present in the following documents:

• Main text
• 12891_2021_Article_4700.pdf

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Comprehensive genetic analysis of 961 unrelated Duchenne Muscular Dystrophy patients: Focus on diagnosis, prevention and therapeutic possibilities.

Plos One

Kumar, Shalini H SH; Athimoolam, Kalpana K; Suraj, Manikandan M; Das Christu Das, Mary Shoba MS; Muralidharan, Aparna A; Jeyam, Divya D; Ashokan, Jaicy J; Karthikeyan, Priya P; Krishna, Ragav R; Khanna-Gupta, Arati A; Bremadesam Raman, Lakshmi L

Publication Date: 2020

Variant appearance in text: DMD: 2582C>G; Ser861Ter

PubMed Link: 32559196

Variant Present in the following documents:

• Main text
• pone.0232654.pdf

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