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Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder.
Accogli A, Lin SJ, Severino M, Kim SH, Huang K, Rocca C, Landsverk M, Zaki MS, Al-Maawali A, Srinivasan VM, Al-Thihli K, Schaefer GB, Davis M, Tonduti D, Doneda C, Marten LM, Mühlhausen C, Gomez M, Lamantea E, Mena R, Nizon M, Procaccio V, Begtrup A, Telegrafi A, Cui H, Schulz HL, Mohr J, Biskup S, Loos MA, Aráoz HV, Salpietro V, Keppen LD, Chitre M, Petree C, Raymond L, Vogt J, Sawyer LB, Basinger AA, Pedersen SV, Pearson TS, Grange DK, Lingappa L, McDunnah P, Horvath R, Cognè B, Isidor B, Hahn A, Gripp KW, Jafarnejad SM, Østergaard E, Prada CE, Ghezzi D, Gowda VK, Taylor RW, Sonenberg N, Houlden H, Sissler M, Varshney GK, Maroofian R. Accogli A, et al. Among authors: srinivasan vm. Genet Med. 2023 Nov;25(11):100938. doi: 10.1016/j.gim.2023.100938. Epub 2023 Jul 13. Genet Med. 2023. PMID: 37454282 Free article.
Mucolipidosis Type IV Due to Novel MCOLN1 Mutation.
Gowda VK, Srinivasan VM, Bhat M, Benakappa A. Gowda VK, et al. Among authors: srinivasan vm. Indian J Pediatr. 2017 Nov;84(11):871-872. doi: 10.1007/s12098-017-2401-6. Epub 2017 Jun 16. Indian J Pediatr. 2017. PMID: 28620732 No abstract available.
Biotin Thiamin Responsive Basal Ganglia Disease in Siblings.
Gowda VK, Srinivasan VM, Bhat M, Benakappa N. Gowda VK, et al. Among authors: srinivasan vm. Indian J Pediatr. 2018 Feb;85(2):155-157. doi: 10.1007/s12098-017-2471-5. Epub 2017 Nov 4. Indian J Pediatr. 2018. PMID: 29101630
A Case of Juvenile Alexander Disease Presenting as Microcephaly.
Gowda VK, Srinivasan VM, Jetha K, Bhat MD. Gowda VK, et al. Among authors: srinivasan vm. Indian J Pediatr. 2019 Apr;86(4):392-393. doi: 10.1007/s12098-018-02850-y. Epub 2019 Jan 10. Indian J Pediatr. 2019. PMID: 30628038 No abstract available.
380 results