Publications:

Quantitative immuno-mass spectrometry imaging of skeletal muscle dystrophin.

Scientific Reports

Bishop, David P DP; Westerhausen, Mika T MT; Barthelemy, Florian F; Lockwood, Thomas T; Cole, Nerida N; Gibbs, Elizabeth M EM; Crosbie, Rachelle H RH; Nelson, Stanley F SF; Miceli, M Carrie MC; Doble, Philip A PA; Wanagat, Jonathan J

Publication Date: 2021-01-13

Variant appearance in text: DMD: E3468X

PubMed Link: 33441839

Variant Present in the following documents:

• Main text
• 41598_2020_Article_80495.pdf

View BVdb publication page

A well-tolerated core needle muscle biopsy process suitable for children and adults.

Muscle & Nerve

Barthelemy, Florian F; Woods, Jeremy D JD; Nieves-Rodriguez, Shirley S; Douine, Emilie D ED; Wang, Richard R; Wanagat, Jonathan J; Miceli, M Carrie MC; Nelson, Stanley F SF

Publication Date: 2020-12

Variant appearance in text: DMD: 10402G>T; Glu3468*

PubMed Link: 32820569

Variant Present in the following documents:

• Main text
• MUS-62-688.pdf

View BVdb publication page

Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy.

Human Genetics

Okubo, Mariko M; Noguchi, Satoru S; Hayashi, Shinichiro S; Nakamura, Harumasa H; Komaki, Hirofumi H; Matsuo, Masafumi M; Nishino, Ichizo I

Publication Date: 2020-02

Variant appearance in text: DMD: Glu3468*

PubMed Link: 31919629

Variant Present in the following documents:

• Main text
• 439_2019_Article_2107.pdf

View BVdb publication page