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

Year Number of Results
1993 1
2002 2
2003 1
2004 5
2005 4
2006 8
2007 8
2008 6
2009 6
2010 8
2011 7
2012 5
2013 7
2014 13
2015 9
2016 12
2017 12
2018 13
2019 11
2020 9
2021 11
2022 9
2023 11
2024 0

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150 results

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Page 1
MutationTaster2021.
Steinhaus R, Proft S, Schuelke M, Cooper DN, Schwarz JM, Seelow D. Steinhaus R, et al. Among authors: schuelke m. Nucleic Acids Res. 2021 Jul 2;49(W1):W446-W451. doi: 10.1093/nar/gkab266. Nucleic Acids Res. 2021. PMID: 33893808 Free PMC article.
Myostatin mutation associated with gross muscle hypertrophy in a child.
Schuelke M, Wagner KR, Stolz LE, Hübner C, Riebel T, Kömen W, Braun T, Tobin JF, Lee SJ. Schuelke M, et al. N Engl J Med. 2004 Jun 24;350(26):2682-8. doi: 10.1056/NEJMoa040933. N Engl J Med. 2004. PMID: 15215484 Free article. No abstract available.
Ataxia with Vitamin E Deficiency.
Schuelke M. Schuelke M. 2005 May 20 [updated 2023 Mar 16]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2005 May 20 [updated 2023 Mar 16]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301419 Free Books & Documents. Review.
Defective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome.
Inak G, Rybak-Wolf A, Lisowski P, Pentimalli TM, Jüttner R, Glažar P, Uppal K, Bottani E, Brunetti D, Secker C, Zink A, Meierhofer D, Henke MT, Dey M, Ciptasari U, Mlody B, Hahn T, Berruezo-Llacuna M, Karaiskos N, Di Virgilio M, Mayr JA, Wortmann SB, Priller J, Gotthardt M, Jones DP, Mayatepek E, Stenzel W, Diecke S, Kühn R, Wanker EE, Rajewsky N, Schuelke M, Prigione A. Inak G, et al. Among authors: schuelke m. Nat Commun. 2021 Mar 26;12(1):1929. doi: 10.1038/s41467-021-22117-z. Nat Commun. 2021. PMID: 33771987 Free PMC article.
Movement disorders in MCT8 deficiency/Allan-Herndon-Dudley Syndrome.
Masnada S, Sarret C, Antonello CE, Fadilah A, Krude H, Mura E, Mordekar S, Nicita F, Olivotto S, Orcesi S, Porta F, Remerand G, Siri B, Wilpert NM, Amir-Yazdani P, Bertini E, Schuelke M, Bernard G, Boespflug-Tanguy O, Tonduti D. Masnada S, et al. Among authors: schuelke m. Mol Genet Metab. 2022 Jan;135(1):109-113. doi: 10.1016/j.ymgme.2021.12.003. Epub 2021 Dec 16. Mol Genet Metab. 2022. PMID: 34969638
Cytoplasmic body myopathy revisited.
Schuelke M, Schwarz M, Stenzel W, Goebel HH. Schuelke M, et al. Neuromuscul Disord. 2018 Nov;28(11):969-971. doi: 10.1016/j.nmd.2018.08.006. Epub 2018 Aug 30. Neuromuscul Disord. 2018. PMID: 30253894 No abstract available.
Dystrophin myonuclear domain restoration governs treatment efficacy in dystrophic muscle.
Morin A, Stantzou A, Petrova ON, Hildyard J, Tensorer T, Matouk M, Petkova MV, Richard I, Manoliu T, Goyenvalle A, Falcone S, Schuelke M, Laplace-Builhé C, Piercy RJ, Garcia L, Amthor H. Morin A, et al. Among authors: schuelke m. Proc Natl Acad Sci U S A. 2023 Jan 10;120(2):e2206324120. doi: 10.1073/pnas.2206324120. Epub 2023 Jan 3. Proc Natl Acad Sci U S A. 2023. PMID: 36595689 Free PMC article.
Phenotero: Annotate as you write.
Hombach D, Schwarz JM, Knierim E, Schuelke M, Seelow D, Köhler S. Hombach D, et al. Among authors: schuelke m. Clin Genet. 2019 Feb;95(2):287-292. doi: 10.1111/cge.13471. Epub 2018 Dec 7. Clin Genet. 2019. PMID: 30417324
150 results