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2015 3
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85 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 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.
Myotonic Dystrophy Type 1 (DM1): Clinical Characteristics and Disease Progression in a Large Cohort.
Chawla T, Reddy N, Jankar R, Vengalil S, Polavarapu K, Arunachal G, Preethish-Kumar V, Nashi S, Bardhan M, Rajeshwaran J, Afsar M, Warrier M, Thomas PT, Thennarasu K, Nalini A. Chawla T, et al. Among authors: preethish kumar v. Neurol India. 2024 Jan 1;72(1):83-89. doi: 10.4103/neuroindia.NI_1432_20. Epub 2024 Feb 29. Neurol India. 2024. PMID: 38443007 Free article.
GNE Myopathy: Genotype - Phenotype Correlation and Disease Progression in an Indian Cohort.
Baskar D, Reddy N, Preethish-Kumar V, Polavarapu K, Nishadham V, Vengalil S, Nashi S, Sanka SB, Bardhan M, Huddar A, Unnikrishnan G, Harikrishna GV, Gunasekaran S, Thomas PT, Keerthipriya MS, Girija MS, Arunachal G, Anjanappa RM, Nishino I, Pogoryelova O, Lochmuller H, Nalini A. Baskar D, et al. Among authors: preethish kumar v. J Neuromuscul Dis. 2024;11(5):959-968. doi: 10.3233/JND-230130. J Neuromuscul Dis. 2024. PMID: 39213088 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.
Phenotype-genotype spectrum of a cohort of congenital muscular dystrophies: a single-centre experience from India.
Chawla T, Nashi S, Baskar D, Polavarapu K, Vengalil S, Bardhan M, Preethish-Kumar V, Sukrutha R, Unnikrishnan G, Huddar A, Padmanabha H, Anjanappa RM, Bevinahalli N, Nittur V, Rajanna M, Arunachal Udupi G, Nalini A. Chawla T, et al. Among authors: preethish kumar v. Neurogenetics. 2024 Oct;25(4):435-469. doi: 10.1007/s10048-024-00776-6. Epub 2024 Aug 5. Neurogenetics. 2024. PMID: 39103709
85 results