Targeting RyR Activity Boosts Antisense Exon 44 and 45 Skipping in Human DMD Skeletal or Cardiac Muscle Culture Models

por Barthélémy, Florian, Wang, Richard T., Hsu, Christopher, Douine, Emilie D., Marcantonio, Eugene E., Nelson, Stanley F., Miceli, M. Carrie
Publicado 2019

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

por Barthelemy, Florian, Woods, Jeremy D., Nieves‐Rodriguez, Shirley, Douine, Emilie D., Wang, Richard, Wanagat, Jonathan, Miceli, M. Carrie, Nelson, Stanley F.
Publicado 2020

Next-generation mapping: a novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis

por Barseghyan, Hayk, Tang, Wilson, Wang, Richard T., Almalvez, Miguel, Segura, Eva, Bramble, Matthew S., Lipson, Allen, Douine, Emilie D., Lee, Hane, Délot, Emmanuèle C., Nelson, Stanley F., Vilain, Eric
Publicado 2017

Transcriptomic analysis of paired healthy human skeletal muscles to identify modulators of disease severity in DMD

por Nieves-Rodriguez, Shirley, Barthélémy, Florian, Woods, Jeremy D., Douine, Emilie D., Wang, Richard T., Scripture-Adams, Deirdre D., Chesmore, Kevin N., Galasso, Francesca, Miceli, M. Carrie, Nelson, Stanley F.
Publicado 2023

DMD genotype correlations from the Duchenne Registry: Endogenous exon skipping is a factor in prolonged ambulation for individuals with a defined mutation subtype

por Wang, Richard T., Barthelemy, Florian, Martin, Ann S., Douine, Emilie D., Eskin, Ascia, Lucas, Ann, Lavigne, Jenifer, Peay, Holly, Khanlou, Negar, Sweeney, Lee, Cantor, Rita M., Miceli, M. Carrie, Nelson, Stanley F.
Publicado 2018

Single nuclei transcriptomics of muscle reveals intra-muscular cell dynamics linked to dystrophin loss and rescue

por Scripture-Adams, Deirdre D., Chesmore, Kevin N., Barthélémy, Florian, Wang, Richard T., Nieves-Rodriguez, Shirley, Wang, Derek W., Mokhonova, Ekaterina I., Douine, Emilie D., Wan, Jijun, Little, Isaiah, Rabichow, Laura N., Nelson, Stanley F., Miceli, M. Carrie
Publicado 2022

Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling

por Marcogliese, Paul C., Dutta, Debdeep, Ray, Shrestha Sinha, Dang, Nghi D. P., Zuo, Zhongyuan, Wang, Yuchun, Lu, Di, Fazal, Fatima, Ravenscroft, Thomas A., Chung, Hyunglok, Kanca, Oguz, Wan, JiJun, Douine, Emilie D., Network, Undiagnosed Diseases, Pena, Loren D. M., Yamamoto, Shinya, Nelson, Stanley F., Might, Matthew, Meyer, Kathrin C., Yeo, Nan Cher, Bellen, Hugo J.
Publicado 2022

Characterization of spastic paraplegia in a family with a novel PSEN1 mutation

por Ringman, John M, Dorrani, Naghmeh, Fernández, Sara Gutiérrez, Signer, Rebecca, Martinez-Agosto, Julian, Lee, Hane, Douine, Emilie D, Qiao, Yuchuan, Shi, Yonggang, D’Orazio, Lina, Pawar, Sanjay, Robbie, Leah, Kashani, Amir H, Singer, Maxwell, Byers, Joshua T, Magaki, Shino, Guzman, Sam, Sagare, Abhay, Zlokovic, Berislav, Cederbaum, Stephen, Nelson, Stanley, Sheikh-Bahaei, Nasim, Chui, Helena C, Chávez-Gutiérrez, Lucía, Vinters, Harry V
Publicado 2023