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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. Nat Commun. 2023 Feb 23;14(1):1009. doi: 10.1038/s41467-023-36277-7. Nat Commun. 2023. PMID: 36823193 Free PMC article.
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. Neuromuscul Disord. 2024 Jun;39:10-18. doi: 10.1016/j.nmd.2024.03.011. Epub 2024 Mar 22. Neuromuscul Disord. 2024. PMID: 38669730
Vogt-Koyanagi-Harada Syndrome - A Neurologist's Perspective.
Shivaram S, Nagappa M, Seshagiri DV, Shanthakumar JS, Panda SS, Anadure R, Nandeesh BN, Chickabasaviah YT, Bharath RD, Vijayan J, Kashyap B, Sinha S, Taly AB. Shivaram S, et al. Among authors: nandeesh bn. Ann Indian Acad Neurol. 2021 May-Jun;24(3):405-409. doi: 10.4103/aian.AIAN_405_20. Epub 2020 Jul 31. Ann Indian Acad Neurol. 2021. PMID: 34447006 Free PMC article.
103 results