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Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.
Reinson K, Õiglane-Shlik E, Talvik I, Vaher U, Õunapuu A, Ennok M, Teek R, Pajusalu S, Murumets Ü, Tomberg T, Puusepp S, Piirsoo A, Reimand T, Õunap K. Reinson K, et al. Among authors: tomberg t. Am J Med Genet A. 2016 Aug;170(8):2173-6. doi: 10.1002/ajmg.a.37678. Epub 2016 Jun 2. Am J Med Genet A. 2016. PMID: 27250579
Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia.
Mencacci NE, Brockmann MM, Dai J, Pajusalu S, Atasu B, Campos J, Pino G, Gonzalez-Latapi P, Patzke C, Schwake M, Tucci A, Pittman A, Simon-Sanchez J, Carvill GL, Balint B, Wiethoff S, Warner TT, Papandreou A, Soo A, Rein R, Kadastik-Eerme L, Puusepp S, Reinson K, Tomberg T, Hanagasi H, Gasser T, Bhatia KP, Kurian MA, Lohmann E, Õunap K, Rosenmund C, Südhof TC, Wood NW, Krainc D, Acuna C. Mencacci NE, et al. Among authors: tomberg t. J Clin Invest. 2021 Apr 1;131(7):e140625. doi: 10.1172/JCI140625. J Clin Invest. 2021. PMID: 33539324 Free PMC article.
Epidemiology of childhood stroke in Estonia.
Laugesaar R, Kolk A, Uustalu U, Ilves P, Tomberg T, Talvik I, Köbas K, Sander V, Talvik T. Laugesaar R, et al. Among authors: tomberg t. Pediatr Neurol. 2010 Feb;42(2):93-100. doi: 10.1016/j.pediatrneurol.2009.08.009. Pediatr Neurol. 2010. PMID: 20117744
Grey matter abnormalities in methcathinone abusers with a Parkinsonian syndrome.
Juurmaa J, Menke RA, Vila P, Müürsepp A, Tomberg T, Ilves P, Nigul M, Johansen-Berg H, Donaghy M, Stagg CJ, Stepens A, Taba P. Juurmaa J, et al. Among authors: tomberg t. Brain Behav. 2016 Aug 18;6(11):e00539. doi: 10.1002/brb3.539. eCollection 2016 Nov. Brain Behav. 2016. PMID: 27843694 Free PMC article.
43 results