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LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.
Dallabona C, Abbink TE, Carrozzo R, Torraco A, Legati A, van Berkel CG, Niceta M, Langella T, Verrigni D, Rizza T, Diodato D, Piemonte F, Lamantea E, Fang M, Zhang J, Martinelli D, Bevivino E, Dionisi-Vici C, Vanderver A, Philip SG, Kurian MA, Verma IC, Bijarnia-Mahay S, Jacinto S, Furtado F, Accorsi P, Ardissone A, Moroni I, Ferrero I, Tartaglia M, Goffrini P, Ghezzi D, van der Knaap MS, Bertini E. Dallabona C, et al. Among authors: verma ic. Brain. 2016 Mar;139(Pt 3):782-94. doi: 10.1093/brain/awv392. Epub 2016 Jan 29. Brain. 2016. PMID: 26912632 Free article.
Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.
Taft RJ, Vanderver A, Leventer RJ, Damiani SA, Simons C, Grimmond SM, Miller D, Schmidt J, Lockhart PJ, Pope K, Ru K, Crawford J, Rosser T, de Coo IF, Juneja M, Verma IC, Prabhakar P, Blaser S, Raiman J, Pouwels PJ, Bevova MR, Abbink TE, van der Knaap MS, Wolf NI. Taft RJ, et al. Among authors: verma ic. Am J Hum Genet. 2013 May 2;92(5):774-80. doi: 10.1016/j.ajhg.2013.04.006. Am J Hum Genet. 2013. PMID: 23643384 Free PMC article.
Mitochondrial DNA depletion syndrome causing liver failure.
Bijarnia-Mahay S, Mohan N, Goyal D, Verma IC. Bijarnia-Mahay S, et al. Among authors: verma ic. Indian Pediatr. 2014 Aug;51(8):666-8. doi: 10.1007/s13312-014-0475-z. Indian Pediatr. 2014. PMID: 25129007 Free article.
Newborn screening: need of the hour in India.
Verma IC, Bijarnia-Mahay S, Jhingan G, Verma J. Verma IC, et al. Among authors: verma j. Indian J Pediatr. 2015 Jan;82(1):61-70. doi: 10.1007/s12098-014-1615-0. Epub 2014 Dec 9. Indian J Pediatr. 2015. PMID: 25482213 Review.
Citrin deficiency: A treatable cause of acute psychosis in adults.
Bijarnia-Mahay S, Häberle J, Rüfenacht V, Shigematsu Y, Saxena R, Verma IC. Bijarnia-Mahay S, et al. Among authors: verma ic. Neurol India. 2015 Mar-Apr;63(2):220-2. doi: 10.4103/0028-3886.156285. Neurol India. 2015. PMID: 25947987 Free article.
Ethylmalonic Encephalopathy in an Indian Boy.
Bijarnia-Mahay S, Gupta D, Shigematsu Y, Yamaguchi S, Saxena R, Verma IC. Bijarnia-Mahay S, et al. Among authors: verma ic. Indian Pediatr. 2016 Oct 8;53(10):914-916. doi: 10.1007/s13312-016-0959-0. Indian Pediatr. 2016. PMID: 27771676 Free article.
413 results