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Page 1
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: chawla t. 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.
Altered REM sleep architecture in patients with Myotonic dystrophy type 1: is related to sleep apnea?
Seshagiri DV, Huddar A, Nashi S, Ray S, Ramaswamy P, Oommen AT, Chawla T, Yadav S, Annapureddy J, Jankar R, Polavarapu K, Vengalil S, Preethish-Kumar V, Warrier M, Thomas PT, Shingavi L, Arunachal G, Yadav R, Nalini A. Seshagiri DV, et al. Among authors: chawla t. Sleep Med. 2021 Mar;79:48-54. doi: 10.1016/j.sleep.2020.12.036. Epub 2021 Jan 1. Sleep Med. 2021. PMID: 33472130
Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome.
Bardhan M, Polavarapu K, Bevinahalli NN, Veeramani PK, Anjanappa RM, Arunachal G, Shingavi L, Vengalil S, Nashi S, Chawla T, Nagabushana D, Mohan D, Horvath R, Nishino I, Atchayaram N. Bardhan M, et al. Among authors: chawla t. J Hum Genet. 2021 Aug;66(8):813-823. doi: 10.1038/s10038-021-00913-1. Epub 2021 Mar 12. J Hum Genet. 2021. PMID: 33712684
Correction: Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome.
Bardhan M, Polavarapu K, Bevinahalli NN, Preethish-Kumar V, Anjanappa RM, Arunachal G, Shingavi L, Vengalil S, Nashi S, Chawla T, Nagabushana D, Mohan D, Horvath R, Nishino I, Nalini A. Bardhan M, et al. Among authors: chawla t. J Hum Genet. 2021 Aug;66(8):841. doi: 10.1038/s10038-021-00920-2. J Hum Genet. 2021. PMID: 33767318 No abstract available.
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. Among authors: chawla t. J Neuromuscul Dis. 2021;8(4):525-535. doi: 10.3233/JND-210658. J Neuromuscul Dis. 2021. PMID: 33843695
Nemaline Rod/Cap Myopathy Due to Novel Homozygous MYPN Mutations: The First Report from South Asia and Comprehensive Literature Review.
Polavarapu K, Bardhan M, Anjanappa RM, Vengalil S, Preethish-Kumar V, Shingavi L, Chawla T, Nashi S, Mohan D, Arunachal G, Geetha TS, Ramprasad V, Nalini A. Polavarapu K, et al. Among authors: chawla t. J Clin Neurol. 2021 Jul;17(3):409-418. doi: 10.3988/jcn.2021.17.3.409. J Clin Neurol. 2021. PMID: 34184449 Free PMC article.
A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients.
Polavarapu K, Mathur A, Joshi A, Nashi S, Preethish-Kumar V, Bardhan M, Sharma P, Parveen S, Seth M, Vengalil S, Chawla T, Shingavi L, Shamim U, Nayak S, Vivekanand A, Töpf A, Roos A, Horvath R, Lochmüller H, Nandeesh B, Arunachal G, Nalini A, Faruq M. Polavarapu K, et al. Among authors: chawla t. Neurogenetics. 2021 Oct;22(4):271-285. doi: 10.1007/s10048-021-00658-1. Epub 2021 Aug 1. Neurogenetics. 2021. PMID: 34333724
Diaphragmatic ultrasound: Prospects as a tool to assess respiratory muscle involvement in amyotrophic lateral sclerosis.
Rajula RR, Saini J, Unnikrishnan G, Vengalil S, Nashi S, Bardhan M, Huddar A, Chawla T, Sindhu DM, Ganaraja VH, Polavarapu K, Preethish-Kumar V, Kandavel T, Sathyaprabha TN, Nalini A. Rajula RR, et al. Among authors: chawla t. J Clin Ultrasound. 2022 Jan;50(1):131-135. doi: 10.1002/jcu.23069. Epub 2021 Oct 5. J Clin Ultrasound. 2022. PMID: 34609007
Case Report: Post-Chikungunya-Associated Myeloneuropathy.
Patwardhan A, Nalini A, Baishya PP, Kulanthaivelu K, Krishnareddy H, Dutta D, Chawla T, Chowdary RM, Yadav R, Vengalil S. Patwardhan A, et al. Among authors: chawla t. Am J Trop Med Hyg. 2021 Aug 23;105(4):942-945. doi: 10.4269/ajtmh.20-1277. Am J Trop Med Hyg. 2021. PMID: 34614478 Free PMC article.
205 results