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Page 1
Intronic enhancers of the human SNCA gene predominantly regulate its expression in brain in vivo.
Cheng F, Zheng W, Liu C, Barbuti PA, Yu-Taeger L, Casadei N, Huebener-Schmid J, Admard J, Boldt K, Junger K, Ueffing M, Houlden H, Sharma M, Kruger R, Grundmann-Hauser K, Ott T, Riess O. Cheng F, et al. Among authors: admard j. Sci Adv. 2022 Nov 25;8(47):eabq6324. doi: 10.1126/sciadv.abq6324. Epub 2022 Nov 23. Sci Adv. 2022. PMID: 36417521 Free PMC article.
DJ-1 (Park7) affects the gut microbiome, metabolites and the development of innate lymphoid cells (ILCs).
Singh Y, Trautwein C, Dhariwal A, Salker MS, Alauddin M, Zizmare L, Pelzl L, Feger M, Admard J, Casadei N, Föller M, Pachauri V, Park DS, Mak TW, Frick JS, Wallwiener D, Brucker SY, Lang F, Riess O. Singh Y, et al. Among authors: admard j. Sci Rep. 2020 Sep 30;10(1):16131. doi: 10.1038/s41598-020-72903-w. Sci Rep. 2020. PMID: 32999308 Free PMC article.
Human Dopaminergic Neurons Lacking PINK1 Exhibit Disrupted Dopamine Metabolism Related to Vitamin B6 Co-Factors.
Bus C, Zizmare L, Feldkaemper M, Geisler S, Zarani M, Schaedler A, Klose F, Admard J, Mageean CJ, Arena G, Fallier-Becker P, Ugun-Klusek A, Maruszczak KK, Kapolou K, Schmid B, Rapaport D, Ueffing M, Casadei N, Krüger R, Gasser T, Vogt Weisenhorn DM, Kahle PJ, Trautwein C, Gloeckner CJ, Fitzgerald JC. Bus C, et al. Among authors: admard j. iScience. 2020 Nov 13;23(12):101797. doi: 10.1016/j.isci.2020.101797. eCollection 2020 Dec 18. iScience. 2020. PMID: 33299968 Free PMC article.
DYT6 mutated THAP1 is a cell type dependent regulator of the SP1 family.
Cheng F, Zheng W, Barbuti PA, Bonsi P, Liu C, Casadei N, Ponterio G, Meringolo M, Admard J, Dording CM, Yu-Taeger L, Nguyen HP, Grundmann-Hauser K, Ott T, Houlden H, Pisani A, Krüger R, Riess O. Cheng F, et al. Among authors: admard j. Brain. 2022 Nov 21;145(11):3968-3984. doi: 10.1093/brain/awac001. Brain. 2022. PMID: 35015830
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Park J, Tucci A, Cipriani V, Demidov G, Rocca C, Senderek J, Butryn M, Velic A, Lam T, Galanaki E, Cali E, Vestito L, Maroofian R, Deininger N, Rautenberg M, Admard J, Hahn GA, Bartels C, van Os NJH, Horvath R, Chinnery PF, Tiet MY, Hewamadduma C, Hadjivassiliou M, Tofaris GK; Genomics England Research Consortium; Wood NW, Hayer SN, Bender F, Menden B, Cordts I, Klein K, Nguyen HP, Krauss JK, Blahak C, Strom TM, Sturm M, van de Warrenburg B, Lerche H, Maček B, Synofzik M, Ossowski S, Timmann D, Wolf ME, Smedley D, Riess O, Schöls L, Houlden H, Haack TB, Hengel H. Park J, et al. Among authors: admard j. Genet Med. 2022 Oct;24(10):2079-2090. doi: 10.1016/j.gim.2022.07.006. Epub 2022 Aug 20. Genet Med. 2022. PMID: 35986737 Free article.
Genome sequencing identifies complex structural MLH1 variant in unsolved Lynch syndrome.
Witt D, Faust U, Strobl-Wildemann G, Sturm M, Buchert R, Zuleger T, Admard J, Casadei N, Ossowski S, Haack TB, Rieß O, Schroeder C. Witt D, et al. Among authors: admard j. Mol Genet Genomic Med. 2023 Jun;11(6):e2151. doi: 10.1002/mgg3.2151. Epub 2023 Feb 9. Mol Genet Genomic Med. 2023. PMID: 36760167 Free PMC article.
Blood transcriptome sequencing identifies biomarkers able to track disease stages in spinocerebellar ataxia type 3.
Raposo M, Hübener-Schmid J, Ferreira AF, Vieira Melo AR, Vasconcelos J, Pires P, Kay T, Garcia-Moreno H, Giunti P, Santana MM, Pereira de Almeida L, Infante J, van de Warrenburg BP, de Vries JJ, Faber J, Klockgether T, Casadei N, Admard J, Schöls L; European Spinocerebellar ataxia type 3/Machado-Joseph disease Initiative (ESMI) study group; Riess O, Lima M. Raposo M, et al. Among authors: admard j. Brain. 2023 Oct 3;146(10):4132-4143. doi: 10.1093/brain/awad128. Brain. 2023. PMID: 37071051
Overexpression of human alpha-Synuclein leads to dysregulated microbiome/metabolites with ageing in a rat model of Parkinson disease.
Singh Y, Trautwein C, Romani J, Salker MS, Neckel PH, Fraccaroli I, Abeditashi M, Woerner N, Admard J, Dhariwal A, Dueholm MKD, Schäfer KH, Lang F, Otzen DE, Lashuel HA, Riess O, Casadei N. Singh Y, et al. Among authors: admard j. Mol Neurodegener. 2023 Jul 4;18(1):44. doi: 10.1186/s13024-023-00628-1. Mol Neurodegener. 2023. PMID: 37403161 Free PMC article.
PET/MRI and genetic intrapatient heterogeneity in head and neck cancers.
Clasen K, Leibfarth S, Hilke FJ, Admard J, Winter RM, Welz S, Gatidis S, Nann D, Ossowski S, Breuer T, la Fougère C, Nikolaou K, Riess O, Zips D, Schroeder C, Thorwarth D. Clasen K, et al. Among authors: admard j. Strahlenther Onkol. 2020 Jun;196(6):542-551. doi: 10.1007/s00066-020-01606-y. Epub 2020 Mar 24. Strahlenther Onkol. 2020. PMID: 32211941
31 results