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Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy.
van der Knoop MM, Maroofian R, Fukata Y, van Ierland Y, Karimiani EG, Lehesjoki AE, Muona M, Paetau A, Miyazaki Y, Hirano Y, Selim L, de França M, Fock RA, Beetz C, Ruivenkamp CAL, Eaton AJ, Morneau-Jacob FD, Sagi-Dain L, Shemer-Meiri L, Peleg A, Haddad-Halloun J, Kamphuis DJ, Peeters-Scholte CMPCD, Kurul SH, Horvath R, Lochmüller H, Murphy D, Waldmüller S, Spranger S, Overberg D, Muir AM, Rad A, Vona B, Abdulwahad F, Maddirevula S, Povolotskaya IS, Voinova VY, Gowda VK, Srinivasan VM, Alkuraya FS, Mefford HC, Alfadhel M, Haack TB, Striano P, Severino M, Fukata M, Hilhorst-Hofstee Y, Houlden H. van der Knoop MM, et al. Among authors: srinivasan vm. Brain. 2022 Jul 29;145(7):2301-2312. doi: 10.1093/brain/awac116. Brain. 2022. PMID: 35373813 Free PMC 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.
415 results