1. TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype. Issue 6 (13th November 2015) Authors: Donkervoort, Sandra; Papadaki, Maria; de Winter, Josine M.; Neu, Matthew B.; Kirschner, Janbernd; Bolduc, Véronique; Yang, Michele L.; Gibbons, Melissa A.; Hu, Ying; Dastgir, Jahannaz; Leach, Meganne E.; Rutkowski, Anne; Foley, A. Reghan; Krüger, Marcus; Wartchow, Eric P.; McNamara, Elyshia; Ong,... Journal: Annals of neurology Issue: Volume 78:Issue 6(2015:Dec.) Page Start: 982 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Congenital muscular dystrophies in China. Issue 3 (6th June 2019) Authors: Ge, Lin; Zhang, Cheng; Wang, Zhaoxia; Chan, Sophelia H.S.; Zhu, Wenhua; Han, Chunxi; Zhang, Xiaoli; Zheng, Hong; Wu, Liwen; Jin, Bo; Shan, Jingli; Mao, Bing; Zhong, Jianmin; Peng, Xiaoyin; Cheng, Yaying; Hu, Jun; Sun, Yan; Lu, Junlan; Hua, Ying; Zhu, Sainan Journal: Clinical genetics Issue: Volume 96:Issue 3(2019) Page Start: 207 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Pneumothoraces in collagen VI-related dystrophy: a case series and recommendations for management. Issue 2 (23rd June 2017) Authors: Fraser, Kristin L.; Wong, Scott; Foley, A. Reghan; Chhibber, Sameer; Bönnemann, Carsten G.; Lesser, Daniel J.; Grosmann, Carla; Rutkowski, Anne Journal: ERJ open research Issue: Volume 3:Issue 2(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Electrical impedance myography in individuals with collagen 6 and laminin α‐2 congenital muscular dystrophy: a cross‐sectional and 2‐year analysis. Issue 1 (25th April 2017) Authors: Nichols, Carmel; Jain, Minal S.; Meilleur, Katherine G.; Wu, Tianxia; Collins, James; Waite, Melissa R.; Dastgir, Jahannaz; Salman, Anam; Donkervoort, Sandra; Duong, Tina; Keller, Katherine; Leach, Meganne E.; Lott, Donovan J.; McGuire, Michelle N.; Nelson, Leslie; Rutkowski, Anne; Vuillerot, Car... Journal: Muscle & nerve Issue: Volume 57:Issue 1(2018) Page Start: 54 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Comparison of sitting and supine forced vital capacity in collagen VI‐related dystrophy and laminin α2‐related dystrophy. Issue 4 (13th January 2017) Authors: Meilleur, Katherine G.; Linton, Melody M.; Fontana, Joseph; Rutkowski, Anne; Elliott, Jeffrey; Barton, Mark; McGraw, Peter; Kokkinis, Angela; Donkervoort, Sandra; Leach, Meganne; Jain, Minal; Dastgir, Jahannaz; Collins, James; Szczesniak, Rhonda; Yang, Kelly; Sawnani, Hemant; Bönnemann, Carsten G. Journal: Pediatric pulmonology Issue: Volume 52:Issue 4(2017) Page Start: 524 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophies. (19th November 2019) Authors: Jain, Minal S.; Meilleur, Katherine; Kim, Eunhee; Norato, Gina; Waite, Melissa; Nelson, Leslie; McGuire, Michelle; Duong, Tina; Keller, Katherine; Lott, Donovan J.; Glanzman, Allan; Rose, Kristy; Main, Marion; Fiorini, Courtney; Chrismer, Irene; Linton, Melody; Punjabi, Monal; Elliott, Jeffrey; T... Journal: Neurology Issue: Volume 93:Number 21(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. A natural history study of X-linked myotubular myopathy. (26th September 2017) Authors: Amburgey, Kimberly; Tsuchiya, Etsuko; de Chastonay, Sabine; Glueck, Michael; Alverez, Rachel; Nguyen, Cam-Tu; Rutkowski, Anne; Hornyak, Joseph; Beggs, Alan H.; Dowling, James J. Journal: Neurology Issue: Volume 89:Number 13(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Health condition and risk attitude in the Dutch population: an exploratory approach. (19th May 2018) Authors: Martín-Fernández, Jesús; Medina-Palomino, Hector J; Ariza-Cardiel, Gloria; Polentinos-Castro, Elena; Rutkowski, Anne Journal: Health, risk & society Issue: Volume 20:Number 3/4(2018) Page Start: 126 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Cardiac manifestations of congenital LMNA-related muscular dystrophy in children: three case reports and recommendations for care. (12th December 2016) Authors: Heller, Felice; Dabaj, Ivana; Mah, Jean K.; Bergounioux, Jean; Essid, Aben; Bönnemann, Carsten G.; Rutkowski, Anne; Bonne, Gisèle; Quijano-Roy, Susana; Wahbi, Karim Journal: Cardiology in the young Issue: Volume 27:Number 6(2017) Page Start: 1076 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗