Publications:

Theragnosis for Duchenne Muscular Dystrophy.

Frontiers In Pharmacology

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: 7792C>T; Gln2598*

PubMed Link: 34149409

Variant Present in the following documents:

• Main text
• fphar-12-648390.pdf

View BVdb publication page

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: 7792C>T; Gln2598Ter

PubMed Link: 32559196

Variant Present in the following documents:

• Main text
• pone.0232654.pdf

View BVdb publication page

Molecular Genetics Analysis of 70 Chinese Families With Muscular Dystrophy Using Multiplex Ligation-Dependent Probe Amplification and Next-Generation Sequencing.

Frontiers In Pharmacology

Wang, Dong D; Gao, Min M; Zhang, Kaihui K; Jin, Ruifeng R; Lv, Yuqiang Y; Liu, Yong Y; Ma, Jian J; Wan, Ya Y; Gai, Zhongtao Z; Liu, Yi Y

Publication Date: 2019

Variant appearance in text: DMD: 7792C>T; Gln2598Ter

PubMed Link: 31404137

Variant Present in the following documents:

• Main text
• fphar-10-00814.pdf

View BVdb publication page

Therapeutic approach with Ataluren in Duchenne symptomatic carriers with nonsense mutations in dystrophin gene. Results of a 9-month follow-up in a case report.

Acta Myologica : Myopathies And Cardiomyopathies : Official Journal Of The Mediterranean Society Of Myology

D'Ambrosio, Paola P; Orsini, Chiara C; Nigro, Vincenzo V; Politano, Luisa L

Publication Date: 2018-12

Variant appearance in text: DMD: 7792C>T

PubMed Link: 30944907

Variant Present in the following documents:

• Main text
• am-2018-04-272.pdf

View BVdb publication page