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Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.
Polavarapu K, Sunitha B, Töpf A, Preethish-Kumar V, Thompson R, Vengalil S, Nashi S, Bardhan M, Sanka SB, Huddar A, Unnikrishnan G, Arunachal G, Girija MS, Porter A, Azuma Y, Lorenzoni PJ, Baskar D, Anjanappa RM, Keertipriya M, Padmanabh H, Harikrishna GV, Laurie S, Matalonga L, Horvath R, Nalini A, Lochmüller H. Polavarapu K, et al. Among authors: padmanabh h. Brain. 2024 Jan 4;147(1):281-296. doi: 10.1093/brain/awad315. Brain. 2024. PMID: 37721175
Clinical, genetic profile and disease progression of sarcoglycanopathies in a large cohort from India: high prevalence of SGCB c.544A > C.
Bardhan M, Anjanappa RM, Polavarapu K, Preethish-Kumar V, Vengalil S, Nashi S, Sanga S, Padmanabh H, Valasani RK, Nishadham V, Keerthipriya M, Geetha TS, Ramprasad V, Arunachal G, Thomas PT, Acharya M, Nalini A. Bardhan M, et al. Among authors: padmanabh h. Neurogenetics. 2022 Jul;23(3):187-202. doi: 10.1007/s10048-022-00690-9. Epub 2022 Apr 13. Neurogenetics. 2022. PMID: 35416532
Unusual Cause of West Syndrome.
Kasinathan A, Padmanabh H, Gupta K, Sankhyan N, Singh P, Singhi P. Kasinathan A, et al. Among authors: padmanabh h. J Pediatr Neurosci. 2017 Jul-Sep;12(3):288-290. doi: 10.4103/jpn.JPN_24_17. J Pediatr Neurosci. 2017. PMID: 29204211 Free PMC article.