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Genotype-phenotype correlation and natural history study of dysferlinopathy: a single-centre experience from India.
Nashi S, Polavarapu K, Bardhan M, Anjanappa RM, Preethish-Kumar V, Vengalil S, Padmanabha H, Geetha TS, Prathyusha PV, Ramprasad V, Joshi A, Chawla T, Unnikrishnan G, Sharma P, Huddar A, Uppilli B, Thomas A, Baskar D, Mathew S, Menon D, Arunachal G, Faruq M, Thangaraj K, Nalini A. Nashi S, et al. Among authors: arunachal g. Neurogenetics. 2023 Jan;24(1):43-53. doi: 10.1007/s10048-022-00707-3. Epub 2022 Dec 29. Neurogenetics. 2023. PMID: 36580222
Mutation pattern in 606 Duchenne muscular dystrophy children with a comparison between familial and non-familial forms: a study in an Indian large single-center cohort.
Polavarapu K, Preethish-Kumar V, Sekar D, Vengalil S, Nashi S, Mahajan NP, Thomas PT, Sadasivan A, Warrier M, Gupta A, Arunachal G, Debnath M, Keerthipriya MS, Pradeep-Chandra-Reddy C, Puttegowda A, John AP, Tavvala A, Gunasekaran S, Sathyaprabha TN, Chandra SR, Kramer B, Delhaas T, Nalini A. Polavarapu K, et al. Among authors: arunachal g. J Neurol. 2019 Sep;266(9):2177-2185. doi: 10.1007/s00415-019-09380-3. Epub 2019 May 28. J Neurol. 2019. PMID: 31139960
Whole-exome analyses of congenital muscular dystrophy and congenital myopathy patients from India reveal a wide spectrum of known and novel mutations.
Sanga S, Ghosh A, Kumar K, Polavarapu K, Preethish-Kumar V, Vengalil S, Nashi S, Bardhan M, Arunachal G, Raju S, Gayathri N, Biswas NK, Chakrabarti S, Nalini A, Roy S, Acharya M. Sanga S, et al. Among authors: arunachal g. Eur J Neurol. 2021 Mar;28(3):992-1003. doi: 10.1111/ene.14616. Epub 2020 Nov 26. Eur J Neurol. 2021. PMID: 33124102
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: arunachal g. 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: arunachal g. 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: arunachal g. 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: arunachal g. J Neuromuscul Dis. 2021;8(4):525-535. doi: 10.3233/JND-210658. J Neuromuscul Dis. 2021. PMID: 33843695
74 results