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Partial loss of desmin expression due to a leaky splice site variant in the human DES gene is associated with neuromuscular transmission defects.
Polavarapu K, O'Neil D, Thompson R, Spendiff S, Nandeesh B, Vengalil S, Huddar A, Baskar D, Arunachal G, Kotambail A, Bhatia S, Tumulu SK, Matalonga L, Töpf A, Laurie S, Zeldin J, Nashi S, Unnikrishnan G, Nalini A, Lochmüller H. Polavarapu K, et al. Among authors: unnikrishnan g. Neuromuscul Disord. 2024 Jun;39:10-18. doi: 10.1016/j.nmd.2024.03.011. Epub 2024 Mar 22. Neuromuscul Disord. 2024. PMID: 38669730
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: unnikrishnan g. J Clin Ultrasound. 2022 Jan;50(1):131-135. doi: 10.1002/jcu.23069. Epub 2021 Oct 5. J Clin Ultrasound. 2022. PMID: 34609007
Muscle ultrasonography in detecting fasciculations: A noninvasive diagnostic tool for 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, Nalini A. Rajula RR, et al. Among authors: unnikrishnan g. J Clin Ultrasound. 2022 Feb;50(2):286-291. doi: 10.1002/jcu.23084. Epub 2021 Oct 15. J Clin Ultrasound. 2022. PMID: 34653263
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: unnikrishnan 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: unnikrishnan 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.
Thymic Lesions in Myasthenia Gravis: A Clinicopathological Study from India.
Nishadham V, Bardhan M, Polavarapu K, Vengalil S, Nashi S, Menon D, Ganaraja VH, Preethish-Kumar V, Valasani RK, Huddar A, Unnikrishnan GK, Thomas A, Saravanan A, Kulanthaivelu K, Nalini A, Nandeesh BN. Nishadham V, et al. J Neuromuscul Dis. 2022;9(3):411-422. doi: 10.3233/JND-210785. J Neuromuscul Dis. 2022. PMID: 35431258
105 results