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

Year Number of Results
1972 1
1975 1
1977 2
1979 2
1984 1
1985 1
1986 1
1987 3
1988 4
1992 2
1993 2
1994 1
1995 1
1996 1
1998 3
1999 7
2000 9
2001 11
2002 14
2003 8
2004 13
2005 7
2006 7
2007 7
2008 7
2009 8
2010 2
2011 6
2012 11
2013 17
2014 17
2015 21
2016 28
2017 17
2018 15
2019 16
2020 33
2021 28
2022 16
2023 20
2024 12
2025 0

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342 results

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Page 1
Trial of N-Acetyl-l-Leucine in Niemann-Pick Disease Type C.
Bremova-Ertl T, Ramaswami U, Brands M, Foltan T, Gautschi M, Gissen P, Gowing F, Hahn A, Jones S, Kay R, Kolnikova M, Arash-Kaps L, Marquardt T, Mengel E, Park JH, Reichmannová S, Schneider SA, Sivananthan S, Walterfang M, Wibawa P, Strupp M, Martakis K. Bremova-Ertl T, et al. Among authors: marquardt t. N Engl J Med. 2024 Feb 1;390(5):421-431. doi: 10.1056/NEJMoa2310151. N Engl J Med. 2024. PMID: 38294974 Clinical Trial.
De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies.
Platzer K, Sticht H, Edwards SL, Allen W, Angione KM, Bonati MT, Brasington C, Cho MT, Demmer LA, Falik-Zaccai T, Gamble CN, Hellenbroich Y, Iascone M, Kok F, Mahida S, Mandel H, Marquardt T, McWalter K, Panis B, Pepler A, Pinz H, Ramos L, Shinde DN, Smith-Hicks C, Stegmann APA, Stöbe P, Stumpel CTRM, Wilson C, Lemke JR, Di Donato N, Miller KG, Jamra R. Platzer K, et al. Among authors: marquardt t. Am J Hum Genet. 2019 Feb 7;104(2):203-212. doi: 10.1016/j.ajhg.2018.12.008. Epub 2019 Jan 3. Am J Hum Genet. 2019. PMID: 30612693 Free PMC article.
Ketamine and other glutamate receptor modulators for depression in adults with unipolar major depressive disorder.
Dean RL, Hurducas C, Hawton K, Spyridi S, Cowen PJ, Hollingsworth S, Marquardt T, Barnes A, Smith R, McShane R, Turner EH, Cipriani A. Dean RL, et al. Among authors: marquardt t. Cochrane Database Syst Rev. 2021 Sep 12;9(9):CD011612. doi: 10.1002/14651858.CD011612.pub3. Cochrane Database Syst Rev. 2021. PMID: 34510411 Free PMC article. Review.
Group-specific cellular metabolism in Medulloblastoma.
Funke VLE, Walter C, Melcher V, Wei L, Sandmann S, Hotfilder M, Varghese J, Jäger N, Kool M, Jones DTW, Pfister SM, Milde T, Mynarek M, Rutkowski S, Seggewiss J, Jeising D, de Faria FW, Marquardt T, Albert TK, Schüller U, Kerl K. Funke VLE, et al. Among authors: marquardt t. J Transl Med. 2023 Jun 5;21(1):363. doi: 10.1186/s12967-023-04211-6. J Transl Med. 2023. PMID: 37277823 Free PMC article.
Mitochondrial DNA mutations in Medulloblastoma.
Funke VLE, Sandmann S, Melcher V, Seggewiss J, Horvath J, Jäger N, Kool M, Jones DTW, Pfister SM, Milde T, Rutkowski S, Mynarek M, Varghese J, Sträter R, Rust S, Seelhöfer A, Reunert J, Fiedler B, Schüller U, Marquardt T, Kerl K. Funke VLE, et al. Among authors: marquardt t. Acta Neuropathol Commun. 2023 Jul 27;11(1):124. doi: 10.1186/s40478-023-01602-0. Acta Neuropathol Commun. 2023. PMID: 37501103 Free PMC article.
Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease.
Donkervoort S, van de Locht M, Ronchi D, Reunert J, McLean CA, Zaki M, Orbach R, de Winter JM, Conijn S, Hoomoedt D, Neto OLA, Magri F, Viaene AN, Foley AR, Gorokhova S, Bolduc V, Hu Y, Acquaye N, Napoli L, Park JH, Immadisetty K, Miles LB, Essawi M, McModie S, Ferreira LF, Zanotti S, Neuhaus SB, Medne L, ElBagoury N, Johnson KR, Zhang Y, Laing NG, Davis MR, Bryson-Richardson RJ, Hwee DT, Hartman JJ, Malik FI, Kekenes-Huskey PM, Comi GP, Sharaf-Eldin W, Marquardt T, Ravenscroft G, Bönnemann CG, Ottenheijm CAC. Donkervoort S, et al. Among authors: marquardt t. Sci Transl Med. 2024 Apr 3;16(741):eadg2841. doi: 10.1126/scitranslmed.adg2841. Epub 2024 Apr 3. Sci Transl Med. 2024. PMID: 38569017 Free article.
Locally acquired respiratory diphtheria in Australia.
Smith S, Stewart J, Hanson J, Harris J, Chuang FJ, Quail G, Hawarden B, Lad R, McNee S, McCartney B, Marquardt T, Wilson I, Tacon C, Whitfield BC. Smith S, et al. Among authors: marquardt t. Med J Aust. 2023 Jun 5;218(10):446-448. doi: 10.5694/mja2.51938. Epub 2023 Apr 30. Med J Aust. 2023. PMID: 37121573 No abstract available.
Neurological outcome in long-chain hydroxy fatty acid oxidation disorders.
Mütze U, Ottenberger A, Gleich F, Maier EM, Lindner M, Husain RA, Palm K, Beblo S, Freisinger P, Santer R, Thimm E, Vom Dahl S, Weinhold N, Grohmann-Held K, Haase C, Hennermann JB, Hörbe-Blindt A, Kamrath C, Marquardt I, Marquardt T, Behne R, Haas D, Spiekerkoetter U, Hoffmann GF, Garbade SF, Grünert SC, Kölker S. Mütze U, et al. Among authors: marquardt t. Ann Clin Transl Neurol. 2024 Apr;11(4):883-898. doi: 10.1002/acn3.52002. Epub 2024 Jan 23. Ann Clin Transl Neurol. 2024. PMID: 38263760 Free PMC article.
342 results