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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. Brain. 2024 Jan 4;147(1):281-296. doi: 10.1093/brain/awad315. Brain. 2024. PMID: 37721175
Novel TCAP mutation c.32C>A causing limb girdle muscular dystrophy 2G.
Francis A, Sunitha B, Vinodh K, Polavarapu K, Katkam SK, Modi S, Bharath MM, Gayathri N, Nalini A, Thangaraj K. Francis A, et al. Among authors: polavarapu k. PLoS One. 2014 Jul 23;9(7):e102763. doi: 10.1371/journal.pone.0102763. eCollection 2014. PLoS One. 2014. PMID: 25055047 Free PMC article.
Distal bimelic amyotrophy (DBMA): Phenotypically distinct but identical on cervical spine MR imaging with brachial monomelic amyotrophy/Hirayama disease.
Preethish-Kumar V, Nalini A, Singh RJ, Saini J, Prasad C, Polavarapu K, Thennarasu K. Preethish-Kumar V, et al. Among authors: polavarapu k. Amyotroph Lateral Scler Frontotemporal Degener. 2015;16(5-6):338-44. doi: 10.3109/21678421.2015.1039546. Epub 2015 May 12. Amyotroph Lateral Scler Frontotemporal Degener. 2015. PMID: 25967543
Beevor's sign: a potential clinical marker for GNE myopathy.
Preethish-Kumar V, Pogoryelova O, Polavarapu K, Gayathri N, Seena V, Hudson J, Nishino I, Prasad C, Lochmüller H, Nalini A. Preethish-Kumar V, et al. Among authors: polavarapu k. Eur J Neurol. 2016 Aug;23(8):e46-8. doi: 10.1111/ene.13041. Eur J Neurol. 2016. PMID: 27431025 No abstract available.
103 results