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Page 1
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: riess o. Brain. 2023 Oct 3;146(10):4132-4143. doi: 10.1093/brain/awad128. Brain. 2023. PMID: 37071051
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: riess o. 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.
Frequency and Phenotype of RFC1 Repeat Expansions in Bilateral Vestibulopathy.
Traschütz A, Heindl F, Bilal M, Hartmann AM, Dufke C, Riess O, Zwergal A, Rujescu D, Haack T, Synofzik M, Strupp M. Traschütz A, et al. Among authors: riess o. Neurology. 2023 Sep 5;101(10):e1001-e1013. doi: 10.1212/WNL.0000000000207553. Epub 2023 Jul 17. Neurology. 2023. PMID: 37460231
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations.
Laugwitz L, Cheng F, Collins SC, Hustinx A, Navarro N, Welsch S, Cox H, Hsieh TC, Vijayananth A, Buchert R, Bender B, Efthymiou S, Murphy D, Zafar F, Rana N, Grasshoff U, Falb RJ, Grimmel M, Seibt A, Zheng W, Ghaedi H, Thirion M, Couette S, Azizimalamiri R, Sadeghian S, Galehdari H, Zamani M, Zeighami J, Sedaghat A, Ramshe SM, Zare A, Alipoor B, Klee D, Sturm M, Ossowski S, Houlden H, Riess O, Wieczorek D, Gavin R, Maroofian R, Krawitz P, Yalcin B, Distelmaier F, Haack TB. Laugwitz L, et al. Among authors: riess o. Brain. 2024 Feb 22:awae058. doi: 10.1093/brain/awae058. Online ahead of print. Brain. 2024. PMID: 38386308
Blood and cerebellar abundance of ATXN3 splice variants in spinocerebellar ataxia type 3/Machado-Joseph disease.
Raposo M, Hübener-Schmid J, Tagett R, 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, Riess O; European Spinocerebellar ataxia type 3/Machado-Joseph disease Initiative (ESMI) study group; Costa MDC, Lima M. Raposo M, et al. Among authors: riess o. Neurobiol Dis. 2024 Apr;193:106456. doi: 10.1016/j.nbd.2024.106456. Epub 2024 Feb 27. Neurobiol Dis. 2024. PMID: 38423193 Free article.
Detection of circulating cell-free HPV DNA of 13 HPV types for patients with cervical cancer as potential biomarker to monitor therapy response and to detect relapse.
Mittelstadt S, Kelemen O, Admard J, Gschwind A, Koch A, Wörz S, Oberlechner E, Engler T, Bonzheim I, Staebler A, Weidner N, Stubenrauch F, Iftner T, Riess O, Schroeder C, Kommoss S, Ossowski S. Mittelstadt S, et al. Among authors: riess o. Br J Cancer. 2023 Jun;128(11):2097-2103. doi: 10.1038/s41416-023-02233-x. Epub 2023 Mar 27. Br J Cancer. 2023. PMID: 36973448 Free PMC article.
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: riess o. Mol Neurodegener. 2023 Jul 4;18(1):44. doi: 10.1186/s13024-023-00628-1. Mol Neurodegener. 2023. PMID: 37403161 Free PMC article.
Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases.
Weisschuh N, Mazzola P, Zuleger T, Schaeferhoff K, Kühlewein L, Kortüm F, Witt D, Liebmann A, Falb R, Pohl L, Reith M, Stühn LG, Bertrand M, Müller A, Casadei N, Kelemen O, Kelbsch C, Kernstock C, Richter P, Sadler F, Demidov G, Schütz L, Admard J, Sturm M, Grasshoff U, Tonagel F, Heinrich T, Nasser F, Wissinger B, Ossowski S, Kohl S, Riess O, Stingl K, Haack TB. Weisschuh N, et al. Among authors: riess o. J Med Genet. 2024 Jan 19;61(2):186-195. doi: 10.1136/jmg-2023-109470. J Med Genet. 2024. PMID: 37734845 Free PMC article.
A Novel PINK1 p.F385S Loss-of-Function Mutation in an Indian Family with Parkinson's Disease.
Sharma K, Kishore A, Lechado-Terradas A, Passannanti R, Raimondi F, Sturm M, Sreelatha AAK, Puthenveedu DK, Sarma G, Casadei N, Krüger R, Gasser T, Kahle P, Riess O, Fitzgerald JC, Sharma M. Sharma K, et al. Among authors: riess o. Mov Disord. 2024 Apr 8. doi: 10.1002/mds.29792. Online ahead of print. Mov Disord. 2024. PMID: 38586902
527 results