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84 results

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Page 1
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 Free PMC article.
Phenotypic Heterogeneity in ORAI-1-Associated Congenital Myopathy.
Baskar D, Vengalil S, Polavarapu K, Preethish-Kumar V, Arunachal G, Sukrutha R, Bardhan M, Huddar A, Unnikrishnan G, Kulkarni GB, Chickabasaviah YT, Kumar RS, Nalini A, Nashi S. Baskar D, et al. Among authors: preethish kumar v. Glob Med Genet. 2024 Sep 5;11(4):297-303. doi: 10.1055/s-0044-1790245. eCollection 2024 Dec. Glob Med Genet. 2024. PMID: 39238562 Free PMC article.
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease.
Van Haute L, O'Connor E, Díaz-Maldonado H, Munro B, Polavarapu K, Hock DH, Arunachal G, Athanasiou-Fragkouli A, Bardhan M, Barth M, Bonneau D, Brunetti-Pierri N, Cappuccio G, Caruana NJ, Dominik N, Goel H, Helman G, Houlden H, Lenaers G, Mention K, Murphy D, Nandeesh B, Olimpio C, Powell CA, Preethish-Kumar V, Procaccio V, Rius R, Rebelo-Guiomar P, Simons C, Vengalil S, Zaki MS, Ziegler A, Thorburn DR, Stroud DA, Maroofian R, Christodoulou J, Gustafsson C, Nalini A, Lochmüller H, Minczuk M, Horvath R. Van Haute L, et al. Among authors: preethish kumar v. Nat Commun. 2023 Feb 23;14(1):1009. doi: 10.1038/s41467-023-36277-7. Nat Commun. 2023. PMID: 36823193 Free PMC article.
Mutation Spectrum of Primary Lipid Storage Myopathies.
Vengalil S, Polavarapu K, Preethish-Kumar V, Nashi S, Arunachal G, Chawla T, Bardhan M, Mohan D, Christopher R, Bevinahalli N, Kulanthaivelu K, Nishino I, Faruq M, Nalini A. Vengalil S, et al. Among authors: preethish kumar v. Ann Indian Acad Neurol. 2022 Jan-Feb;25(1):106-113. doi: 10.4103/aian.aian_333_21. Epub 2022 Feb 1. Ann Indian Acad Neurol. 2022. PMID: 35342266 Free PMC article.
Muscular dystrophies: An Indian scenario.
Nalini A, Polavarapu K, Preethish-Kumar V. Nalini A, et al. Among authors: preethish kumar v. 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.
Neuro-Cardio-Autonomic Modulations in Children with Duchenne Muscular Dystrophy.
Inbaraj G, Arjun K, Meghana A, Preethish-Kumar V, John AP, Polavarapu K, Nashi S, Sekar D, Udupa K, Prathuysha PV, Prasad K, Bardhan M, Raju TR, Kramer BW, Nalini A, Sathyaprabha TN. Inbaraj G, et al. Among authors: preethish kumar v. J Neuromuscul Dis. 2023;10(2):227-238. doi: 10.3233/JND-221621. J Neuromuscul Dis. 2023. PMID: 36847014 Free article.
CASPR2-Related Morvan Syndrome: Autonomic, Polysomnographic, and Neuropsychological Observations.
Swayang PS, Nalini A, Preethish-Kumar V, Udupa K, Yadav R, Vengalil S, Reshma SS, Polavarapu K, Nashi S, Sathyaprabha TN, Treesa Thomas P, Maya B, Jamuna R, Mahadevan A, Netravathi M. Swayang PS, et al. Among authors: preethish kumar v. Neurol Clin Pract. 2021 Jun;11(3):e267-e276. doi: 10.1212/CPJ.0000000000000978. Neurol Clin Pract. 2021. PMID: 34484901 Free PMC article.
Childhood-Onset Myopathy With Preserved Ambulation Caused by a Recurrent ADSSL1 Missense Variant.
Baskar D, Polavarapu K, Preethish-Kumar V, Vengalil S, Nashi S, Töpf A, Thomas A, Sanka SB, Menon D, Srivastava K, Arunachal G, Nandeesh BN, Lochmüller H, Nalini A. Baskar D, et al. Among authors: preethish kumar v. Neurol Genet. 2024 Jan 3;10(1):e200122. doi: 10.1212/NXG.0000000000200122. eCollection 2024 Feb. Neurol Genet. 2024. PMID: 38229919 Free PMC article.
84 results