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TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease.
Van Haute L, O'Connor E, Díaz-Maldonado H, Munro B, Polavarapu K, Hock DH, Arunachal G, Athanasiou-Fragkouli A, Bardhan M, Barth M, Bonneau D, Brunetti-Pierri N, Cappuccio G, Caruana NJ, Dominik N, Goel H, Helman G, Houlden H, Lenaers G, Mention K, Murphy D, Nandeesh B, Olimpio C, Powell CA, Preethish-Kumar V, Procaccio V, Rius R, Rebelo-Guiomar P, Simons C, Vengalil S, Zaki MS, Ziegler A, Thorburn DR, Stroud DA, Maroofian R, Christodoulou J, Gustafsson C, Nalini A, Lochmüller H, Minczuk M, Horvath R. Van Haute L, et al. Among authors: nalini a. Nat Commun. 2023 Feb 23;14(1):1009. doi: 10.1038/s41467-023-36277-7. Nat Commun. 2023. PMID: 36823193 Free PMC article.
Novel TCAP mutation c.32C>A causing limb girdle muscular dystrophy 2G.
Francis A, Sunitha B, Vinodh K, Polavarapu K, Katkam SK, Modi S, Bharath MM, Gayathri N, Nalini A, Thangaraj K. Francis A, et al. Among authors: nalini a. PLoS One. 2014 Jul 23;9(7):e102763. doi: 10.1371/journal.pone.0102763. eCollection 2014. PLoS One. 2014. PMID: 25055047 Free PMC article.
Distal bimelic amyotrophy (DBMA): Phenotypically distinct but identical on cervical spine MR imaging with brachial monomelic amyotrophy/Hirayama disease.
Preethish-Kumar V, Nalini A, Singh RJ, Saini J, Prasad C, Polavarapu K, Thennarasu K. Preethish-Kumar V, et al. Among authors: nalini a. Amyotroph Lateral Scler Frontotemporal Degener. 2015;16(5-6):338-44. doi: 10.3109/21678421.2015.1039546. Epub 2015 May 12. Amyotroph Lateral Scler Frontotemporal Degener. 2015. PMID: 25967543
Muscle MRI in Duchenne muscular dystrophy: Evidence of a distinctive pattern.
Polavarapu K, Manjunath M, Preethish-Kumar V, Sekar D, Vengalil S, Thomas P, Sathyaprabha TN, Bharath RD, Nalini A. Polavarapu K, et al. Among authors: nalini a. Neuromuscul Disord. 2016 Nov;26(11):768-774. doi: 10.1016/j.nmd.2016.09.002. Epub 2016 Sep 5. Neuromuscul Disord. 2016. PMID: 27666775
215 results