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

Year Number of Results
1975 1
1979 1
1987 1
1988 2
1990 2
1991 4
1993 1
1995 2
1996 2
1997 1
1998 2
1999 2
2000 3
2001 1
2002 3
2003 2
2004 6
2005 5
2006 10
2007 11
2008 12
2009 12
2010 10
2011 13
2012 14
2013 16
2014 24
2015 23
2016 22
2017 22
2018 14
2019 20
2020 19
2021 16
2022 1
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Search Results

274 results
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Page 1
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.
Cortese A, Zhu Y, Rebelo AP, Negri S, Courel S, Abreu L, Bacon CJ, Bai Y, Bis-Brewer DM, Bugiardini E, Buglo E, Danzi MC, Feely SME, Athanasiou-Fragkouli A, Haridy NA; Inherited Neuropathy Consortium, Isasi R, Khan A, Laurà M, Magri S, Pipis M, Pisciotta C, Powell E, Rossor AM, Saveri P, Sowden JE, Tozza S, Vandrovcova J, Dallman J, Grignani E, Marchioni E, Scherer SS, Tang B, Lin Z, Al-Ajmi A, Schüle R, Synofzik M, Maisonobe T, Stojkovic T, Auer-Grumbach M, Abdelhamed MA, Hamed SA, Zhang R, Manganelli F, Santoro L, Taroni F, Pareyson D, Houlden H, Herrmann DN, Reilly MM, Shy ME, Zhai RG, Zuchner S. Cortese A, et al. Among authors: schule r. Nat Genet. 2020 May;52(5):473-481. doi: 10.1038/s41588-020-0615-4. Epub 2020 May 4. Nat Genet. 2020. PMID: 32367058 Free PMC article.
The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME.
Senderek J, Lassuthova P, Kabzińska D, Abreu L, Baets J, Beetz C, Braathen GJ, Brenner D, Dalton J, Dankwa L, Deconinck T, De Jonghe P, Dräger B, Eggermann K, Ellis M, Fischer C, Stojkovic T, Herrmann DN, Horvath R, Høyer H, Iglseder S, Kennerson M, Kinslechner K, Kohler JN, Kurth I, Laing NG, Lamont PJ, Wolfgang N L, Ludolph A, Marques W Jr, Nicholson G, Ong R, Petri S, Ravenscroft G, Rebelo A, Ricci G, Rudnik-Schöneborn S, Schirmacher A, Schlotter-Weigel B, Schoels L, Schüle R, Synofzik M, Francou B, Strom TM, Wagner J, Walk D, Wanschitz J, Weinmann D, Weishaupt J, Wiessner M, Windhager R, Young P, Züchner S, Toegel S, Seeman P, Kochański A, Auer-Grumbach M. Senderek J, et al. Among authors: schule r. Neurology. 2020 Dec 15;95(24):e3163-e3179. doi: 10.1212/WNL.0000000000011132. Epub 2020 Nov 3. Neurology. 2020. PMID: 33144514 Free PMC article.
Reply.
Schüle R, Wiethoff S, Schöls L. Schüle R, et al. Ann Neurol. 2016 Jul;80(1):170-1. doi: 10.1002/ana.24670. Epub 2016 May 10. Ann Neurol. 2016. PMID: 27121776 No abstract available.
[Ataxias and hereditary spastic paraplegias].
Schüle R, Schöls L. Schüle R, et al. Nervenarzt. 2017 Jul;88(7):720-727. doi: 10.1007/s00115-017-0357-4. Nervenarzt. 2017. PMID: 28600743 Review. German.
Selective targeting of epigenetic reader domains.
Greschik H, Schüle R, Günther T. Greschik H, et al. Among authors: schule r. Expert Opin Drug Discov. 2017 May;12(5):449-463. doi: 10.1080/17460441.2017.1303474. Epub 2017 Mar 14. Expert Opin Drug Discov. 2017. PMID: 28277835 Review.
Assessing non-Mendelian inheritance in inherited axonopathies.
Bis-Brewer DM, Gan-Or Z, Sleiman P; Inherited Neuropathy Consortium, Hakonarson H, Fazal S, Courel S, Cintra V, Tao F, Estiar MA, Tarnopolsky M, Boycott KM, Yoon G, Suchowersky O, Dupré N, Cheng A, Lloyd TE, Rouleau G, Schüle R, Züchner S. Bis-Brewer DM, et al. Among authors: schule r. Genet Med. 2020 Dec;22(12):2114-2119. doi: 10.1038/s41436-020-0924-0. Epub 2020 Aug 3. Genet Med. 2020. PMID: 32741968 Free PMC article.
Genetics of hereditary spastic paraplegias.
Schüle R, Schöls L. Schüle R, et al. Semin Neurol. 2011 Nov;31(5):484-93. doi: 10.1055/s-0031-1299787. Epub 2012 Jan 21. Semin Neurol. 2011. PMID: 22266886 Review.
Histone demethylation and androgen-dependent transcription.
Metzger E, Wissmann M, Schüle R. Metzger E, et al. Among authors: schule r. Curr Opin Genet Dev. 2006 Oct;16(5):513-7. doi: 10.1016/j.gde.2006.08.013. Epub 2006 Aug 17. Curr Opin Genet Dev. 2006. PMID: 16919442 Review.
Cerebrotendinous xanthomatosis.
Schöls L, Nägele T, Schüle R, Berg D. Schöls L, et al. Among authors: schule r. Neurology. 2006 Dec 12;67(11):E20. doi: 10.1212/01.wnl.0000247673.08554.0f. Neurology. 2006. PMID: 17159091 No abstract available.
274 results