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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: arunachal g. Neurol Genet. 2024 Jan 3;10(1):e200122. doi: 10.1212/NXG.0000000000200122. eCollection 2024 Feb. Neurol Genet. 2024. PMID: 38229919 Free PMC article.
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
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
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
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: arunachal g. 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: arunachal g. Neurogenetics. 2021 Oct;22(4):271-285. doi: 10.1007/s10048-021-00658-1. Epub 2021 Aug 1. Neurogenetics. 2021. PMID: 34333724
Expanding the Phenotypic Spectrum of ECEL1-Associated Distal Arthrogryposis.
Huddar A, Polavarapu K, Preethish-Kumar V, Bardhan M, Unnikrishnan G, Nashi S, Vengalil S, Priyadarshini P, Kulanthaivelu K, Arunachal G, Lochmüller H, Nalini A. Huddar A, et al. Among authors: arunachal g. Children (Basel). 2021 Oct 13;8(10):909. doi: 10.3390/children8100909. Children (Basel). 2021. PMID: 34682174 Free PMC article.
Disease Progression and Mutation Pattern in a Large Cohort of LGMD R1/LGMD 2A Patients from India.
Ganaraja VH, Polavarapu K, Bardhan M, Preethish-Kumar V, Leena S, Anjanappa RM, Vengalil S, Nashi S, Arunachal G, Gunasekaran S, Mohan D, Raju S, Unnikrishnan G, Huddar A, Ravi-Kiran V, Thomas PT, Nalini A. Ganaraja VH, et al. Among authors: arunachal g. Glob Med Genet. 2021 Nov 9;9(1):34-41. doi: 10.1055/s-0041-1736567. eCollection 2022 Mar. Glob Med Genet. 2021. PMID: 35169782 Free PMC article.
74 results