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Further Delineation of the Clinical and Pathologic Features of HIKESHI-Related Hypomyelinating Leukodystrophy.
Helman G, Zerem A, Almad A, Hacker JL, Woidill S, Sase S, LeFevre AN, Ekstein J, Johansson MM, Stutterd CA, Taft RJ, Simons C, Grinspan JB, Pizzino A, Schmidt JL, Harding B, Hirsch Y, Viaene AN, Fattal-Valevski A, Vanderver A. Helman G, et al. Pediatr Neurol. 2021 Aug;121:11-19. doi: 10.1016/j.pediatrneurol.2021.04.014. Epub 2021 May 14. Pediatr Neurol. 2021. PMID: 34111619 Free PMC article.
Epilepsy in children with infantile thiamine deficiency.
Fattal-Valevski A, Bloch-Mimouni A, Kivity S, Heyman E, Brezner A, Strausberg R, Inbar D, Kramer U, Goldberg-Stern H. Fattal-Valevski A, et al. Neurology. 2009 Sep 15;73(11):828-33. doi: 10.1212/WNL.0b013e3181b121f5. Epub 2009 Jul 1. Neurology. 2009. PMID: 19571254
Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.
Thompson K, Majd H, Dallabona C, Reinson K, King MS, Alston CL, He L, Lodi T, Jones SA, Fattal-Valevski A, Fraenkel ND, Saada A, Haham A, Isohanni P, Vara R, Barbosa IA, Simpson MA, Deshpande C, Puusepp S, Bonnen PE, Rodenburg RJ, Suomalainen A, Õunap K, Elpeleg O, Ferrero I, McFarland R, Kunji ER, Taylor RW. Thompson K, et al. Am J Hum Genet. 2016 Oct 6;99(4):860-876. doi: 10.1016/j.ajhg.2016.08.014. Epub 2016 Sep 29. Am J Hum Genet. 2016. PMID: 27693233 Free PMC article.
Leukodystrophies: clinical and genetic aspects.
Lyon G, Fattal-Valevski A, Kolodny EH. Lyon G, et al. Top Magn Reson Imaging. 2006 Aug;17(4):219-42. doi: 10.1097/RMR.0b013e31804c99d4. Top Magn Reson Imaging. 2006. PMID: 17414998 Review.
Homozygous p.V116* mutation in C12orf65 results in Leigh syndrome.
Imagawa E, Fattal-Valevski A, Eyal O, Miyatake S, Saada A, Nakashima M, Tsurusaki Y, Saitsu H, Miyake N, Matsumoto N. Imagawa E, et al. J Neurol Neurosurg Psychiatry. 2016 Feb;87(2):212-6. doi: 10.1136/jnnp-2014-310084. Epub 2015 May 20. J Neurol Neurosurg Psychiatry. 2016. PMID: 25995486
Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study.
Nabbout R, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, D Amato L, d'Augères GB, de Vries PJ, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Marques R, O'Callaghan F, Qin J, Sander V, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Jansen A, Kingswood JC; TOSCA Consortium and TOSCA Investigators. Nabbout R, et al. Epilepsia Open. 2018 Dec 21;4(1):73-84. doi: 10.1002/epi4.12286. eCollection 2019 Mar. Epilepsia Open. 2018. PMID: 30868117 Free PMC article.
138 results