Pneumothoraces in collagen VI-related dystrophy: a case series and recommendations for management

by Kristin L. Fraser, Scott Wong, A. Reghan Foley, Sameer Chhibber, Carsten G. Bönnemann, Daniel J. Lesser, Carla Grosmann, Anne Rutkowski
Published 2017-06-01

Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel.

by C Alexander Valencia, Arunkanth Ankala, Devin Rhodenizer, Shruti Bhide, Martin Robert Littlejohn, Lisa Mari Keong, Anne Rutkowski, Susan Sparks, Carsten Bonnemann, Madhuri Hegde
Published 2013-01-01

Hypoglycemia in patients with congenital muscle disease

by Leslie H. Hayes, Pomi Yun, Payam Mohassel, Gina Norato, Sandra Donkervoort, Meganne E. Leach, Rachel Alvarez, Anne Rutkowski, Natalie D. Shaw, A. Reghan Foley, Carsten G. Bönnemann
Published 2020-02-01

Omigapil treatment decreases fibrosis and improves respiratory rate in dy(2J) mouse model of congenital muscular dystrophy.

by Qing Yu, Arpana Sali, Jack Van der Meulen, Brittany K Creeden, Heather Gordish-Dressman, Anne Rutkowski, Sree Rayavarapu, Kitipong Uaesoontrachoon, Tony Huynh, Kanneboyina Nagaraju, Christopher F Spurney
Published 2013-01-01

Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort

by Dandan Tan, Lin Ge, Yanbin Fan, Xingzhi Chang, Shuang Wang, Cuijie Wei, Juan Ding, Aijie Liu, Shuo Wang, Xueying Li, Kai Gao, Haipo Yang, Chengli Que, Zhen Huang, Chunde Li, Ying Zhu, Bing Mao, Bo Jin, Ying Hua, Xiaoli Zhang, Bingbing Zhang, Wenhua Zhu, Cheng Zhang, Yanjuan Wang, Yun Yuan, Yuwu Jiang, Anne Rutkowski, Carsten G. Bönnemann, Xiru Wu, Hui Xiong
Published 2021-07-01