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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: vandrovcova j. 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.
Variation in tau isoform expression in different brain regions and disease states.
Majounie E, Cross W, Newsway V, Dillman A, Vandrovcova J, Morris CM, Nalls MA, Ferrucci L, Owen MJ, O'Donovan MC, Cookson MR, Singleton AB, de Silva R, Morris HR. Majounie E, et al. Among authors: vandrovcova j. Neurobiol Aging. 2013 Jul;34(7):1922.e7-1922.e12. doi: 10.1016/j.neurobiolaging.2013.01.017. Epub 2013 Feb 19. Neurobiol Aging. 2013. PMID: 23428180 Free PMC article.
Somatic BRAF-V600E mutations in familial colorectal cancer.
Vandrovcova J, Lagerstedt-Robinsson K, Påhlman L, Lindblom A. Vandrovcova J, et al. Cancer Epidemiol Biomarkers Prev. 2006 Nov;15(11):2270-3. doi: 10.1158/1055-9965.EPI-06-0359. Cancer Epidemiol Biomarkers Prev. 2006. PMID: 17119056
The South Asian genome.
Chambers JC, Abbott J, Zhang W, Turro E, Scott WR, Tan ST, Afzal U, Afaq S, Loh M, Lehne B, O'Reilly P, Gaulton KJ, Pearson RD, Li X, Lavery A, Vandrovcova J, Wass MN, Miller K, Sehmi J, Oozageer L, Kooner IK, Al-Hussaini A, Mills R, Grewal J, Panoulas V, Lewin AM, Northwood K, Wander GS, Geoghegan F, Li Y, Wang J, Aitman TJ, McCarthy MI, Scott J, Butcher S, Elliott P, Kooner JS. Chambers JC, et al. Among authors: vandrovcova j. PLoS One. 2014 Aug 12;9(8):e102645. doi: 10.1371/journal.pone.0102645. eCollection 2014. PLoS One. 2014. PMID: 25115870 Free PMC article.
110 results