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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: preethish kumar v. Brain. 2024 Jan 4;147(1):281-296. doi: 10.1093/brain/awad315. Brain. 2024. PMID: 37721175
Muscular dystrophies: An Indian scenario.
Nalini A, Polavarapu K, Preethish-Kumar V. Nalini A, et al. Neurol India. 2017 Sep-Oct;65(5):969-970. doi: 10.4103/neuroindia.NI_733_17. Neurol India. 2017. PMID: 28879877 Free article. No abstract available.
CARASIL families from India with 3 novel null mutations in the HTRA1 gene.
Preethish-Kumar V, Nozaki H, Tiwari S, Vengalil S, Bhat M, Prasad C, Onodera O, Uemura M, Doniparthi S, Saini J, Nashi S, Polavarapu K, Nalini A. Preethish-Kumar V, et al. Neurology. 2017 Dec 5;89(23):2392-2394. doi: 10.1212/WNL.0000000000004710. Epub 2017 Nov 3. Neurology. 2017. PMID: 29101275 No abstract available.
Mutation pattern in 606 Duchenne muscular dystrophy children with a comparison between familial and non-familial forms: a study in an Indian large single-center cohort.
Polavarapu K, Preethish-Kumar V, Sekar D, Vengalil S, Nashi S, Mahajan NP, Thomas PT, Sadasivan A, Warrier M, Gupta A, Arunachal G, Debnath M, Keerthipriya MS, Pradeep-Chandra-Reddy C, Puttegowda A, John AP, Tavvala A, Gunasekaran S, Sathyaprabha TN, Chandra SR, Kramer B, Delhaas T, Nalini A. Polavarapu K, et al. J Neurol. 2019 Sep;266(9):2177-2185. doi: 10.1007/s00415-019-09380-3. Epub 2019 May 28. J Neurol. 2019. PMID: 31139960
Whole-exome analyses of congenital muscular dystrophy and congenital myopathy patients from India reveal a wide spectrum of known and novel mutations.
Sanga S, Ghosh A, Kumar K, Polavarapu K, Preethish-Kumar V, Vengalil S, Nashi S, Bardhan M, Arunachal G, Raju S, Gayathri N, Biswas NK, Chakrabarti S, Nalini A, Roy S, Acharya M. Sanga S, et al. Eur J Neurol. 2021 Mar;28(3):992-1003. doi: 10.1111/ene.14616. Epub 2020 Nov 26. Eur J Neurol. 2021. PMID: 33124102
Comparison of The Carrier Frequency of Pathogenic Variants of DMD Gene in an Indian Cohort.
Nagabushana D, Polavarapu K, Bardhan M, Arunachal G, Gunasekaran S, Preethish-Kumar V, Anjanappa RM, Thomas P, Sadasivan A, Vengalil S, Nashi S, Chawla T, Warrier M, Keerthipriya M, Raju S, Mohan D, Nalini A. Nagabushana D, et al. J Neuromuscul Dis. 2021;8(4):525-535. doi: 10.3233/JND-210658. J Neuromuscul Dis. 2021. PMID: 33843695
71 results