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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 24
2016 36
2017 54
2018 52
2019 41
2020 38
2021 39
2022 28
2023 23

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Search Results

643 results

Results by year

Filters applied: . Clear all The following terms were ignored: OR, OR
Page 1
Duchenne muscular dystrophy and caregiver burden: a systematic review.
Landfeldt E, Edström J, Buccella F, Kirschner J, Lochmüller H. Landfeldt E, et al. Among authors: lochmuller h. Dev Med Child Neurol. 2018 Oct;60(10):987-996. doi: 10.1111/dmcn.13934. Epub 2018 Jun 14. Dev Med Child Neurol. 2018. PMID: 29904912 Free article. Review.
Congenital myasthenic syndrome: Correlation between clinical features and molecular diagnosis.
Estephan EP, Zambon AA, Thompson R, Polavarapu K, Jomaa D, Töpf A, Helito PVP, Heise CO, Moreno CAM, Silva AMS, Kouyoumdjian JA, Morita MDP, Reed UC, Lochmüller H, Zanoteli E. Estephan EP, et al. Among authors: lochmuller h. Eur J Neurol. 2022 Mar;29(3):833-842. doi: 10.1111/ene.15173. Epub 2021 Nov 17. Eur J Neurol. 2022. PMID: 34749429
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.
Richard EM, Bakhtiari S, Marsh APL, Kaiyrzhanov R, Wagner M, Shetty S, Pagnozzi A, Nordlie SM, Guida BS, Cornejo P, Magee H, Liu J, Norton BY, Webster RI, Worgan L, Hakonarson H, Li J, Guo Y, Jain M, Blesson A, Rodan LH, Abbott MA, Comi A, Cohen JS, Alhaddad B, Meitinger T, Lenz D, Ziegler A, Kotzaeridou U, Brunet T, Chassevent A, Smith-Hicks C, Ekstein J, Weiden T, Hahn A, Zharkinbekova N, Turnpenny P, Tucci A, Yelton M, Horvath R, Gungor S, Hiz S, Oktay Y, Lochmuller H, Zollino M, Morleo M, Marangi G, Nigro V, Torella A, Pinelli M, Amenta S, Husain RA, Grossmann B, Rapp M, Steen C, Marquardt I, Grimmel M, Grasshoff U, Korenke GC, Owczarek-Lipska M, Neidhardt J, Radio FC, Mancini C, Claps Sepulveda DJ, McWalter K, Begtrup A, Crunk A, Guillen Sacoto MJ, Person R, Schnur RE, Mancardi MM, Kreuder F, Striano P, Zara F, Chung WK, Marks WA, van Eyk CL, Webber DL, Corbett MA, Harper K, Berry JG, MacLennan AH, Gecz J, Tartaglia M, Salpietro V, Christodoulou J, Kaslin J, Padilla-Lopez S, Bilguvar K, Munchau A, Ahmed ZM, Hufnagel RB, Fahey MC, Maroofian R, Houlden H, Sticht H, Mane SM, Rad A, Vona B, Jin SC, Haack TB, Makowski C, Hirsch Y, Riazuddin S, Kruer MC. Richard EM, et al. Among authors: lochmuller h. Am J Hum Genet. 2021 Oct 7;108(10):2006-2016. doi: 10.1016/j.ajhg.2021.08.003. Am J Hum Genet. 2021. PMID: 34626583 Free PMC article.
NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice.
Jennings MJ, Kagiava A, Vendredy L, Spaulding EL, Stavrou M, Hathazi D, Grüneboom A, De Winter V, Gess B, Schara U, Pogoryelova O, Lochmüller H, Borchers CH, Roos A, Burgess RW, Timmerman V, Kleopa KA, Horvath R. Jennings MJ, et al. Among authors: lochmuller h. Brain. 2022 Nov 21;145(11):3999-4015. doi: 10.1093/brain/awac055. Brain. 2022. PMID: 35148379 Free PMC article.
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.
Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy.
Pechmann A, Behrens M, Dörnbrack K, Tassoni A, Stein S, Vogt S, Zöller D, Bernert G, Hagenacker T, Schara-Schmidt U, Schwersenz I, Walter MC, Baumann M, Baumgartner M, Deschauer M, Eisenkölbl A, Flotats-Bastardas M, Hahn A, Horber V, Husain RA, Illsinger S, Johannsen J, Köhler C, Kölbel H, Müller M, von Moers A, Schlachter K, Schreiber G, Schwartz O, Smitka M, Steiner E, Stögmann E, Trollmann R, Vill K, Weiß C, Wiegand G, Ziegler A, Lochmüller H, Kirschner J; SMArtCARE study group. Pechmann A, et al. Among authors: lochmuller h. Brain. 2023 Feb 13;146(2):668-677. doi: 10.1093/brain/awac252. Brain. 2023. PMID: 35857854
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.
643 results