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A glimpse of the genetics of young-onset Parkinson's disease in Central Asia.
Kaiyrzhanov R, Aitkulova A, Vandrovcova J, Murphy D, Zharkinbekova N, Shashkin C, Akhmetzhanov V, Kaishibayeva G, Karimova A, Myrzayev Z, Murray M, Khaibullin T, Hardy J, Houlden H. Kaiyrzhanov R, et al. Among authors: vandrovcova j. Mol Genet Genomic Med. 2021 Jun;9(6):e1671. doi: 10.1002/mgg3.1671. Epub 2021 Apr 5. Mol Genet Genomic Med. 2021. PMID: 33818904 Free PMC article.
Differential DJ-1 gene expression in Parkinson's disease.
Kumaran R, Vandrovcova J, Luk C, Sharma S, Renton A, Wood NW, Hardy JA, Lees AJ, Bandopadhyay R. Kumaran R, et al. Among authors: vandrovcova j. Neurobiol Dis. 2009 Nov;36(2):393-400. doi: 10.1016/j.nbd.2009.08.011. Epub 2009 Aug 28. Neurobiol Dis. 2009. PMID: 19716892
MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies.
Trabzuni D, Wray S, Vandrovcova J, Ramasamy A, Walker R, Smith C, Luk C, Gibbs JR, Dillman A, Hernandez DG, Arepalli S, Singleton AB, Cookson MR, Pittman AM, de Silva R, Weale ME, Hardy J, Ryten M. Trabzuni D, et al. Among authors: vandrovcova j. Hum Mol Genet. 2012 Sep 15;21(18):4094-103. doi: 10.1093/hmg/dds238. Epub 2012 Jun 20. Hum Mol Genet. 2012. PMID: 22723018 Free PMC article.
Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 locus.
Trabzuni D, Ryten M, Emmett W, Ramasamy A, Lackner KJ, Zeller T, Walker R, Smith C, Lewis PA, Mamais A, de Silva R, Vandrovcova J; International Parkinson Disease Genomics Consortium (IPDGC); Hernandez D, Nalls MA, Sharma M, Garnier S, Lesage S, Simon-Sanchez J, Gasser T, Heutink P, Brice A, Singleton A, Cai H, Schadt E, Wood NW, Bandopadhyay R, Weale ME, Hardy J, Plagnol V. Trabzuni D, et al. Among authors: vandrovcova j. PLoS One. 2013 Aug 13;8(8):e70724. doi: 10.1371/journal.pone.0070724. eCollection 2013. PLoS One. 2013. PMID: 23967090 Free PMC article.
LRP10 in α-synucleinopathies.
Pihlstrøm L, Schottlaender L, Chelban V, Houlden H; MSA Exome Consortium. Pihlstrøm L, et al. Lancet Neurol. 2018 Dec;17(12):1033-1034. doi: 10.1016/S1474-4422(18)30407-1. Epub 2018 Nov 13. Lancet Neurol. 2018. PMID: 30507385 No abstract available.
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.
Cortese A, Simone R, Sullivan R, Vandrovcova J, Tariq H, Yau WY, Humphrey J, Jaunmuktane Z, Sivakumar P, Polke J, Ilyas M, Tribollet E, Tomaselli PJ, Devigili G, Callegari I, Versino M, Salpietro V, Efthymiou S, Kaski D, Wood NW, Andrade NS, Buglo E, Rebelo A, Rossor AM, Bronstein A, Fratta P, Marques WJ, Züchner S, Reilly MM, Houlden H. Cortese A, et al. Among authors: vandrovcova j. Nat Genet. 2019 Apr;51(4):649-658. doi: 10.1038/s41588-019-0372-4. Epub 2019 Mar 29. Nat Genet. 2019. PMID: 30926972 Free PMC article.
Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.
Cortese A, Simone R, Sullivan R, Vandrovcova J, Tariq H, Yau WY, Humphrey J, Jaunmuktane Z, Sivakumar P, Polke J, Ilyas M, Tribollet E, Tomaselli PJ, Devigili G, Callegari I, Versino M, Salpietro V, Efthymiou S, Kaski D, Wood NW, Andrade NS, Buglo E, Rebelo A, Rossor AM, Bronstein A, Fratta P, Marques WJ, Züchner S, Reilly MM, Houlden H. Cortese A, et al. Among authors: vandrovcova j. Nat Genet. 2019 May;51(5):920. doi: 10.1038/s41588-019-0422-y. Nat Genet. 2019. PMID: 31028356 Free PMC article.
PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.
Chelban V, Wilson MP, Warman Chardon J, Vandrovcova J, Zanetti MN, Zamba-Papanicolaou E, Efthymiou S, Pope S, Conte MR, Abis G, Liu YT, Tribollet E, Haridy NA, Botía JA, Ryten M, Nicolaou P, Minaidou A, Christodoulou K, Kernohan KD, Eaton A, Osmond M, Ito Y, Bourque P, Jepson JEC, Bello O, Bremner F, Cordivari C, Reilly MM, Foiani M, Heslegrave A, Zetterberg H, Heales SJR, Wood NW, Rothman JE, Boycott KM, Mills PB, Clayton PT, Houlden H; Care4Rare Canada Consortium and the SYNaPS Study Group. Chelban V, et al. Among authors: vandrovcova j. Ann Neurol. 2019 Aug;86(2):225-240. doi: 10.1002/ana.25524. Epub 2019 Jul 1. Ann Neurol. 2019. PMID: 31187503 Free PMC article.
112 results