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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: shingavi l. Eur J Neurol. 2021 Apr;28(4):1344-1355. doi: 10.1111/ene.14649. Epub 2020 Dec 17. Eur J Neurol. 2021. PMID: 33220101
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: shingavi l. 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: shingavi l. Neurogenetics. 2021 Oct;22(4):271-285. doi: 10.1007/s10048-021-00658-1. Epub 2021 Aug 1. Neurogenetics. 2021. PMID: 34333724
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: shingavi l. 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: shingavi l. J Hum Genet. 2021 Aug;66(8):841. doi: 10.1038/s10038-021-00920-2. J Hum Genet. 2021. PMID: 33767318 No abstract available.
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: shingavi l. Sleep Med. 2021 Mar;79:48-54. doi: 10.1016/j.sleep.2020.12.036. Epub 2021 Jan 1. Sleep Med. 2021. PMID: 33472130
Lead Encephalopathy with Distinctive Brain Magnetic Resonance Imaging Findings.
Patwardhan A, Atchayaram N, Saini J, Girija MS, Annapureddy J, Alumkadavath M, Chawla T, Shingavi L, Vengalil S. Patwardhan A, et al. Among authors: shingavi l. Neurol India. 2021 Sep-Oct;69(5):1421-1423. doi: 10.4103/0028-3886.329588. Neurol India. 2021. PMID: 34747830 Free article.
Social Cognition Deficits Are Pervasive across Both Classical and Overlap Frontotemporal Dementia Syndromes.
Arshad F, Paplikar A, Mekala S, Varghese F, Purushothaman VV, Kumar DJ, Shingavi L, Vengalil S, Ramakrishnan S, Yadav R, Pal PK, Nalini A, Alladi S. Arshad F, et al. Among authors: shingavi l. Dement Geriatr Cogn Dis Extra. 2020 Nov 4;10(3):115-126. doi: 10.1159/000511329. eCollection 2020 Sep-Dec. Dement Geriatr Cogn Dis Extra. 2020. PMID: 33442389 Free PMC article.