Limb-girdle muscular dystrophy in the Agarwals: Utility of founder mutations in CAPN3 gene

por Khadilkar, Satish V., Chaudhari, Chetan R., Dastur, Rashna S., Gaitonde, Pradnya S., Yadav, Jayendra G.
Publicado 2016

Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent

por Chakravorty, Samya, Nallamilli, Babi Ramesh Reddy, Khadilkar, Satish Vasant, Singla, Madhu Bala, Bhutada, Ashish, Dastur, Rashna, Gaitonde, Pradnya Satish, Rufibach, Laura E, Gloster, Logan, Hegde, Madhuri
Publicado 2020

Detection of Dysferlin Gene Pathogenic Variants in the Indian Population in Patients Predicted to have a Dysferlinopathy Using a Blood-based Monocyte Assay and Clinical Algorithm:...

por Dastur, Rashna Sam, Gaitonde, Pradnya Satish, Kachwala, Munira, Nallamilli, Babi R. R., Ankala, Arunkanth, Khadilkar, Satish V., Atchayaram, Nalini, Gayathri, N., Meena, A. K., Rufibach, Laura, Shira, Sarah, Hegde, Madhuri
Publicado 2017

Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients

por Nallamilli, Babi Ramesh Reddy, Chakravorty, Samya, Kesari, Akanchha, Tanner, Alice, Ankala, Arunkanth, Schneider, Thomas, da Silva, Cristina, Beadling, Randall, Alexander, John J., Askree, Syed Hussain, Whitt, Zachary, Bean, Lora, Collins, Christin, Khadilkar, Satish, Gaitonde, Pradnya, Dastur, Rashna, Wicklund, Matthew, Mozaffar, Tahseen, Harms, Matthew, Rufibach, Laura, Mittal, Plavi, Hegde, Madhuri
Publicado 2018