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Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.
Morsy H, Benkirane M, Cali E, Rocca C, Zhelcheska K, Cipriani V, Galanaki E, Maroofian R, Efthymiou S, Murphy D, O'Driscoll M, Suri M, Banka S, Clayton-Smith J, Wright T, Redman M, Bassetti JA, Nizon M, Cogne B, Jamra RA, Bartolomaeus T, Heruth M, Krey I, Gburek-Augustat J, Wieczorek D, Gattermann F, Mcentagart M, Goldenberg A, Guyant-Marechal L, Garcia-Moreno H, Giunti P, Chabrol B, Bacrot S, Buissonnière R, Magry V, Gowda VK, Srinivasan VM, Melegh B, Szabó A, Sümegi K, Cossée M, Ziff M, Butterfield R, Hunt D, Bird-Lieberman G, Hanna M, Koenig M, Stankewich M, Vandrovcova J, Houlden H; Genomics England Research Consortium. Morsy H, et al. Among authors: srinivasan vm. Genet Med. 2023 Jan;25(1):76-89. doi: 10.1016/j.gim.2022.09.013. Epub 2022 Nov 4. Genet Med. 2023. PMID: 36331550 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.
414 results