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

Year Number of Results
1963 1
1965 2
1966 2
1967 2
1968 2
1971 3
1972 1
1975 2
1979 1
1980 1
1981 1
1982 1
1983 1
1987 1
1988 1
1989 3
1992 1
1993 4
1994 3
1995 5
1996 6
1997 8
1998 8
1999 10
2000 9
2001 13
2002 12
2003 21
2004 17
2005 23
2006 22
2007 26
2008 21
2009 28
2010 27
2011 25
2012 19
2013 30
2014 31
2015 23
2016 36
2017 51
2018 51
2019 41
2020 38
2021 33
2022 15
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Search Results

601 results
Results by year
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Page 1
Sarcoglycanopathies.
Kirschner J, Lochmüller H. Kirschner J, et al. Among authors: lochmuller h. Handb Clin Neurol. 2011;101:41-6. doi: 10.1016/B978-0-08-045031-5.00003-7. Handb Clin Neurol. 2011. PMID: 21496623 Review.
Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database.
Koeks Z, Bladen CL, Salgado D, van Zwet E, Pogoryelova O, McMacken G, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Bellgard MI, Roy AJ, Chamova T, Guergueltcheva V, Chan S, Korngut L, Campbell C, Dai Y, Wang J, Barišić N, Brabec P, Lähdetie J, Walter MC, Schreiber-Katz O, Karcagi V, Garami M, Herczegfalvi A, Viswanathan V, Bayat F, Buccella F, Ferlini A, Kimura E, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Kostera-Pruszczyk A, Santos R, Neagu E, Artemieva S, Rasic VM, Vojinovic D, Posada M, Bloetzer C, Klein A, Díaz-Manera J, Gallardo E, Karaduman AA, Oznur T, Topaloğlu H, El Sherif R, Stringer A, Shatillo AV, Martin AS, Peay HL, Kirschner J, Flanigan KM, Straub V, Bushby K, Béroud C, Verschuuren JJ, Lochmüller H. Koeks Z, et al. Among authors: lochmuller h. J Neuromuscul Dis. 2017;4(4):293-306. doi: 10.3233/JND-170280. J Neuromuscul Dis. 2017. PMID: 29125504 Free PMC article.
The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations.
Bladen CL, Salgado D, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Roy AJ, Chamova T, Guergueltcheva V, Chan S, Korngut L, Campbell C, Dai Y, Wang J, Barišić N, Brabec P, Lahdetie J, Walter MC, Schreiber-Katz O, Karcagi V, Garami M, Viswanathan V, Bayat F, Buccella F, Kimura E, Koeks Z, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Kostera-Pruszczyk A, Zimowski J, Santos R, Neagu E, Artemieva S, Rasic VM, Vojinovic D, Posada M, Bloetzer C, Jeannet PY, Joncourt F, Díaz-Manera J, Gallardo E, Karaduman AA, Topaloğlu H, El Sherif R, Stringer A, Shatillo AV, Martin AS, Peay HL, Bellgard MI, Kirschner J, Flanigan KM, Straub V, Bushby K, Verschuuren J, Aartsma-Rus A, Béroud C, Lochmüller H. Bladen CL, et al. Among authors: lochmuller h. Hum Mutat. 2015 Apr;36(4):395-402. doi: 10.1002/humu.22758. Epub 2015 Mar 17. Hum Mutat. 2015. PMID: 25604253 Free PMC article.
Biomarkers in Duchenne and Becker muscular dystrophies.
McMillan HJ, Lochmüller H. McMillan HJ, et al. Among authors: lochmuller h. Muscle Nerve. 2021 Jul;64(1):4-5. doi: 10.1002/mus.27342. Epub 2021 Jun 4. Muscle Nerve. 2021. PMID: 34076279 No abstract available.
Molecular pathophysiology of human MICU1 deficiency.
Kohlschmidt N, Elbracht M, Czech A, Häusler M, Phan V, Töpf A, Huang KT, Bartok A, Eggermann K, Zippel S, Eggermann T, Freier E, Groß C, Lochmüller H, Horvath R, Hajnóczky G, Weis J, Roos A. Kohlschmidt N, et al. Among authors: lochmuller h. Neuropathol Appl Neurobiol. 2021 Oct;47(6):840-855. doi: 10.1111/nan.12694. Epub 2021 Feb 22. Neuropathol Appl Neurobiol. 2021. PMID: 33428302
Limb-girdle muscular dystrophies.
Guglieri M, Straub V, Bushby K, Lochmüller H. Guglieri M, et al. Among authors: lochmuller h. Curr Opin Neurol. 2008 Oct;21(5):576-84. doi: 10.1097/WCO.0b013e32830efdc2. Curr Opin Neurol. 2008. PMID: 18769252 Review.
The Human Phenotype Ontology in 2017.
Köhler S, Vasilevsky NA, Engelstad M, Foster E, McMurry J, Aymé S, Baynam G, Bello SM, Boerkoel CF, Boycott KM, Brudno M, Buske OJ, Chinnery PF, Cipriani V, Connell LE, Dawkins HJ, DeMare LE, Devereau AD, de Vries BB, Firth HV, Freson K, Greene D, Hamosh A, Helbig I, Hum C, Jähn JA, James R, Krause R, F Laulederkind SJ, Lochmüller H, Lyon GJ, Ogishima S, Olry A, Ouwehand WH, Pontikos N, Rath A, Schaefer F, Scott RH, Segal M, Sergouniotis PI, Sever R, Smith CL, Straub V, Thompson R, Turner C, Turro E, Veltman MW, Vulliamy T, Yu J, von Ziegenweidt J, Zankl A, Züchner S, Zemojtel T, Jacobsen JO, Groza T, Smedley D, Mungall CJ, Haendel M, Robinson PN. Köhler S, et al. Among authors: lochmuller h. Nucleic Acids Res. 2017 Jan 4;45(D1):D865-D876. doi: 10.1093/nar/gkw1039. Epub 2016 Nov 28. Nucleic Acids Res. 2017. PMID: 27899602 Free PMC article. Review.
601 results