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Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent.
Chakravorty S, Nallamilli BRR, Khadilkar SV, Singla MB, Bhutada A, Dastur R, Gaitonde PS, Rufibach LE, Gloster L, Hegde M. Chakravorty S, et al. Among authors: gaitonde ps. Front Neurol. 2020 Nov 5;11:559327. doi: 10.3389/fneur.2020.559327. eCollection 2020. Front Neurol. 2020. PMID: 33250842 Free PMC article.
Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients.
Nallamilli BRR, Chakravorty S, Kesari A, Tanner A, Ankala A, Schneider T, da Silva C, Beadling R, Alexander JJ, Askree SH, Whitt Z, Bean L, Collins C, Khadilkar S, Gaitonde P, Dastur R, Wicklund M, Mozaffar T, Harms M, Rufibach L, Mittal P, Hegde M. Nallamilli BRR, et al. Ann Clin Transl Neurol. 2018 Dec 1;5(12):1574-1587. doi: 10.1002/acn3.649. eCollection 2018 Dec. Ann Clin Transl Neurol. 2018. PMID: 30564623 Free PMC article.
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: A Model for Accurate and Cost-effective Diagnosis.
Dastur RS, Gaitonde PS, Kachwala M, Nallamilli BRR, Ankala A, Khadilkar SV, Atchayaram N, Gayathri N, Meena AK, Rufibach L, Shira S, Hegde M. Dastur RS, et al. Among authors: gaitonde ps. Ann Indian Acad Neurol. 2017 Jul-Sep;20(3):302-308. doi: 10.4103/aian.AIAN_129_17. Ann Indian Acad Neurol. 2017. PMID: 28904466 Free PMC article.
Early and consistent pattern of proximal weakness in GNE myopathy.
Khadilkar SV, Chaudhari AD, Singla MB, Dastur RS, Gaitonde PS, Bhutada AG, Hegde MR. Khadilkar SV, et al. Among authors: gaitonde ps. Muscle Nerve. 2021 Feb;63(2):199-203. doi: 10.1002/mus.27117. Epub 2020 Nov 28. Muscle Nerve. 2021. PMID: 33197058
12 results