Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients
Annals of Clinical and Translational Neurology2018Vol. 5(12), pp. 1574–1587
Citations Over TimeTop 1% of 2018 papers
Babi Ramesh Reddy Nallamilli, Samya Chakravorty, Akanchha Kesari, Alice Tanner, Arunkanth Ankala, Thomas Schneider, Cristina da Silva, Randall Beadling, John Alexander, S. Hussain Askree, Zachary Whitt, Lora Jh Bean, Christin Collins, Satish V. Khadilkar, Pradnya Gaitonde, Rashna Dastur, Matthew Wicklund, Tahseen Mozaffar, Matthew Harms, Laura Rufibach, Plavi Mittal, Madhuri Hegde
Abstract
Overall, this study has improved our understanding of the relative prevalence of different LGMD subtypes, their respective genetic etiology, and the changing paradigm of their inheritance modes and novel mechanisms that will allow for improved timely treatment, management, and enrolment of molecularly diagnosed individuals in clinical trials.
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