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Year Number of Results
2015 3
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2017 11
2018 7
2019 6
2020 9
2021 18
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2023 7
2024 5

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71 results

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Page 1
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.
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
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.
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
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.
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.
Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathies.
Chen Z, Maroofian R, Başak AN, Shingavi L, Karakaya M, Efthymiou S, Gustavsson EK, Meier L, Polavarapu K, Vengalil S, Preethish-Kumar V, Nandeesh BN, Gökçe Güneş N, Akan O, Candan F, Schrank B, Zuchner S, Murphy D, Kapoor M, Ryten M, Wirth B, Reilly MM, Nalini A, Houlden H, Sarraf P. Chen Z, et al. Among authors: preethish kumar v. Eur J Neurol. 2021 Apr;28(4):1344-1355. doi: 10.1111/ene.14649. Epub 2020 Dec 17. Eur J Neurol. 2021. PMID: 33220101
Thymic Lesions in Myasthenia Gravis: A Clinicopathological Study from India.
Nishadham V, Bardhan M, Polavarapu K, Vengalil S, Nashi S, Menon D, Ganaraja VH, Preethish-Kumar V, Valasani RK, Huddar A, Unnikrishnan GK, Thomas A, Saravanan A, Kulanthaivelu K, Nalini A, Nandeesh BN. Nishadham V, et al. Among authors: preethish kumar v. J Neuromuscul Dis. 2022;9(3):411-422. doi: 10.3233/JND-210785. J Neuromuscul Dis. 2022. PMID: 35431258
71 results