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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1948 2
1950 6
1951 4
1986 2
1987 1
1988 1
1989 3
1990 1
1991 6
1992 7
1993 8
1994 5
1995 9
1996 6
1997 10
1998 10
1999 13
2000 15
2001 7
2002 10
2003 13
2004 16
2005 13
2006 17
2007 12
2008 18
2009 21
2010 27
2011 20
2012 24
2013 25
2014 25
2015 20
2016 18
2017 18
2018 26
2019 30
2020 27
2021 26
2022 26
2023 27
2024 13

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527 results

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Page 1
A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy.
Figueroa KP, Gross C, Buena-Atienza E, Paul S, Gandelman M, Kakar N, Sturm M, Casadei N, Admard J, Park J, Zühlke C, Hellenbroich Y, Pozojevic J, Balachandran S, Händler K, Zittel S, Timmann D, Erdlenbruch F, Herrmann L, Feindt T, Zenker M, Klopstock T, Dufke C, Scoles DR, Koeppen A, Spielmann M, Riess O, Ossowski S, Haack TB, Pulst SM. Figueroa KP, et al. Among authors: riess o. Nat Genet. 2024 Apr 29. doi: 10.1038/s41588-024-01719-5. Online ahead of print. Nat Genet. 2024. PMID: 38684900
Resequencing the complete SNCA locus in Indian patients with Parkinson's disease.
Kishore A, Sturm M, Soman Pillai K, Hakkaart C, Kalikavil Puthanveedu D, Urulangodi M, Krishnan S, Ashok Kumar Sreelatha A, Rajan R, Pal PK, Yadav R, Sarma G, Casadei N, Gasser T, Bauer P, Riess O, Sharma M. Kishore A, et al. Among authors: riess o. NPJ Parkinsons Dis. 2024 Apr 15;10(1):85. doi: 10.1038/s41531-024-00676-4. NPJ Parkinsons Dis. 2024. PMID: 38622158 Free PMC article.
Genomes in clinical care.
Riess O, Sturm M, Menden B, Liebmann A, Demidov G, Witt D, Casadei N, Admard J, Schütz L, Ossowski S, Taylor S, Schaffer S, Schroeder C, Dufke A, Haack T. Riess O, et al. NPJ Genom Med. 2024 Mar 14;9(1):20. doi: 10.1038/s41525-024-00402-2. NPJ Genom Med. 2024. PMID: 38485733 Free PMC article. Review.
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.
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
Augmenting MEK inhibitor efficacy in BRAF wild-type melanoma: synergistic effects of disulfiram combination therapy.
Meraz-Torres F, Niessner H, Plöger S, Riel S, Schörg B, Casadei N, Kneilling M, Schaller M, Flatz L, Macek B, Eigentler T, Rieß O, Garbe C, Amaral T, Sinnberg T. Meraz-Torres F, et al. Among authors: riess o. J Exp Clin Cancer Res. 2024 Jan 23;43(1):30. doi: 10.1186/s13046-023-02941-5. J Exp Clin Cancer Res. 2024. PMID: 38263136 Free PMC article.
Stage-Dependent Biomarker Changes in Spinocerebellar Ataxia Type 3.
Faber J, Berger M, Wilke C, Hubener-Schmid J, Schaprian T, Santana MM, Grobe-Einsler M, Onder D, Koyak B, Giunti P, Garcia-Moreno H, Gonzalez-Robles C, Lima M, Raposo M, Melo ARV, de Almeida LP, Silva P, Pinto MM, van de Warrenburg BP, van Gaalen J, de Vries J, Oz G, Joers JM, Synofzik M, Schols L, Riess O, Infante J, Manrique L, Timmann D, Thieme A, Jacobi H, Reetz K, Dogan I, Onyike C, Povazan M, Schmahmann J, Ratai EM, Schmid M, Klockgether T. Faber J, et al. Among authors: riess o. Ann Neurol. 2024 Feb;95(2):400-406. doi: 10.1002/ana.26824. Epub 2023 Dec 5. Ann Neurol. 2024. PMID: 37962377
527 results