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

Year Number of Results
1993 1
1997 1
1998 6
1999 4
2000 4
2001 2
2002 2
2003 1
2004 5
2005 5
2006 9
2007 9
2008 7
2009 8
2010 8
2011 7
2012 6
2013 9
2014 15
2015 9
2016 13
2017 17
2018 16
2019 15
2020 20
2021 15
2022 15
2023 12
2024 0

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208 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.
Myopathology in the times of modern genetics.
Schuelke M, Øien NC, Oldfors A. Schuelke M, et al. Neuropathol Appl Neurobiol. 2017 Feb;43(1):44-61. doi: 10.1111/nan.12374. Neuropathol Appl Neurobiol. 2017. PMID: 28009443 Review.
Emapalumab for the treatment of refractory cytokine release syndrome in pediatric patients.
Schuelke MR, Bassiri H, Behrens EM, Canna S, Croy C, DiNofia A, Gollomp K, Grupp S, Lambert M, Lambrix A, Maude SL, Myers R, Newman H, Petrosa W, Seif A, Sullivan KE, Teachey DT, Diorio C. Schuelke MR, et al. Blood Adv. 2023 Sep 26;7(18):5603-5607. doi: 10.1182/bloodadvances.2023010712. Blood Adv. 2023. PMID: 37721859 Free PMC article. No abstract available.
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
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.
Pediatric de novo movement disorders and ataxia in the context of SARS-CoV-2.
Wilpert NM, de Almeida Marcelino AL, Knierim E, Incoronato P, Sanchez-Sendin E, Staudacher O, Drenckhahn A, Bittigau P, Kreye J, Prüss H, Schuelke M, Kühn AA, Kaindl AM, Nikolaus M. Wilpert NM, et al. Among authors: schuelke m. J Neurol. 2023 Oct;270(10):4593-4607. doi: 10.1007/s00415-023-11853-5. Epub 2023 Jul 29. J Neurol. 2023. PMID: 37515734 Free PMC article. Review.
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
208 results