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Page 1
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: nalini a. 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.
Beevor's sign: a potential clinical marker for GNE myopathy.
Preethish-Kumar V, Pogoryelova O, Polavarapu K, Gayathri N, Seena V, Hudson J, Nishino I, Prasad C, Lochmüller H, Nalini A. Preethish-Kumar V, et al. Among authors: nalini a. Eur J Neurol. 2016 Aug;23(8):e46-8. doi: 10.1111/ene.13041. Eur J Neurol. 2016. PMID: 27431025 No abstract available.
In Vivo Evaluation of White Matter Abnormalities in Children with Duchenne Muscular Dystrophy Using DTI.
Preethish-Kumar V, Shah A, Kumar M, Ingalhalikar M, Polavarapu K, Afsar M, Rajeswaran J, Vengalil S, Nashi S, Thomas PT, Sadasivan A, Warrier M, Nalini A, Saini J. Preethish-Kumar V, et al. Among authors: nalini a. AJNR Am J Neuroradiol. 2020 Jul;41(7):1271-1278. doi: 10.3174/ajnr.A6604. Epub 2020 Jul 2. AJNR Am J Neuroradiol. 2020. PMID: 32616576 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: nalini a. Eur J Neurol. 2021 Mar;28(3):992-1003. doi: 10.1111/ene.14616. Epub 2020 Nov 26. Eur J Neurol. 2021. PMID: 33124102
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: nalini a. Eur J Neurol. 2021 Apr;28(4):1344-1355. doi: 10.1111/ene.14649. Epub 2020 Dec 17. Eur J Neurol. 2021. PMID: 33220101
236 results