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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 14
2017 17
2018 16
2019 15
2020 20
2021 15
2022 13
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Search Results

195 results
Results by year
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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.
Oncolytic virus-derived type I interferon restricts CAR T cell therapy.
Evgin L, Huff AL, Wongthida P, Thompson J, Kottke T, Tonne J, Schuelke M, Ayasoufi K, Driscoll CB, Shim KG, Reynolds P, Monie DD, Johnson AJ, Coffey M, Young SL, Archer G, Sampson J, Pulido J, Perez LS, Vile R. Evgin L, et al. Among authors: schuelke m. Nat Commun. 2020 Jun 24;11(1):3187. doi: 10.1038/s41467-020-17011-z. Nat Commun. 2020. PMID: 32581235 Free PMC article.
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.
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
Repp BM, Mastantuono E, Alston CL, Schiff M, Haack TB, Rötig A, Ardissone A, Lombès A, Catarino CB, Diodato D, Schottmann G, Poulton J, Burlina A, Jonckheere A, Munnich A, Rolinski B, Ghezzi D, Rokicki D, Wellesley D, Martinelli D, Wenhong D, Lamantea E, Ostergaard E, Pronicka E, Pierre G, Smeets HJM, Wittig I, Scurr I, de Coo IFM, Moroni I, Smet J, Mayr JA, Dai L, de Meirleir L, Schuelke M, Zeviani M, Morscher RJ, McFarland R, Seneca S, Klopstock T, Meitinger T, Wieland T, Strom TM, Herberg U, Ahting U, Sperl W, Nassogne MC, Ling H, Fang F, Freisinger P, Van Coster R, Strecker V, Taylor RW, Häberle J, Vockley J, Prokisch H, Wortmann S. Repp BM, et al. Among authors: schuelke m. Orphanet J Rare Dis. 2018 Jul 19;13(1):120. doi: 10.1186/s13023-018-0784-8. Orphanet J Rare Dis. 2018. PMID: 30025539 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.
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.
Ataxia with Vitamin E Deficiency.
Schuelke M. Schuelke M. 2005 May 20 [updated 2016 Oct 13]. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. 2005 May 20 [updated 2016 Oct 13]. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. PMID: 20301419 Free Books & Documents. Review.
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.
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
Imaging the Landmarks of Vascular Recovery.
Hedhli J, Kim M, Knox HJ, Cole JA, Huynh T, Schuelke M, Dobrucki IT, Kalinowski L, Chan J, Sinusas AJ, Insana MF, Dobrucki LW. Hedhli J, et al. Among authors: schuelke m. Theranostics. 2020 Jan 1;10(4):1733-1745. doi: 10.7150/thno.36022. eCollection 2020. Theranostics. 2020. PMID: 32042333 Free PMC article.
195 results