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1960
2025

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

Year Number of Results
1960 1
1964 1
1969 1
1971 1
1974 1
1975 3
1976 1
1977 5
1978 1
1980 1
1982 1
1983 2
1984 1
1985 4
1986 2
1987 2
1988 7
1989 2
1990 5
1991 2
1992 1
1993 2
1994 4
1995 4
1996 2
1997 5
1998 4
1999 5
2000 6
2001 4
2002 5
2003 5
2004 4
2005 6
2006 6
2007 6
2008 8
2009 7
2010 9
2011 6
2012 12
2013 13
2014 11
2015 9
2016 12
2017 9
2018 8
2019 14
2020 17
2021 15
2022 7
2023 8
2024 10
2025 0

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256 results

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Page 1
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A, Johnson K, Bates A, Phillips L, Chao KR, England EM, Laricchia KM, Mullen T, Valkanas E, Xu L, Bertoli M, Blain A, Casasús AB, Duff J, Mroczek M, Specht S, Lek M, Ensini M, MacArthur DG; MYO-SEQ consortium; Straub V. Töpf A, et al. Genet Med. 2020 Sep;22(9):1478-1488. doi: 10.1038/s41436-020-0840-3. Epub 2020 Jun 11. Genet Med. 2020. PMID: 32528171 Free PMC article.
Ataluren delays loss of ambulation and respiratory decline in nonsense mutation Duchenne muscular dystrophy patients.
McDonald CM, Muntoni F, Penematsa V, Jiang J, Kristensen A, Bibbiani F, Goodwin E, Gordish-Dressman H, Morgenroth L, Werner C, Li J, Able R, Trifillis P, Tulinius M; Study 019 investigators. McDonald CM, et al. J Comp Eff Res. 2022 Feb;11(3):139-155. doi: 10.2217/cer-2021-0196. Epub 2021 Nov 18. J Comp Eff Res. 2022. PMID: 34791888 Free PMC article. Clinical Trial.
The 6-minute walk test and other clinical endpoints in duchenne muscular dystrophy: reliability, concurrent validity, and minimal clinically important differences from a multicenter study.
McDonald CM, Henricson EK, Abresch RT, Florence J, Eagle M, Gappmaier E, Glanzman AM; PTC124-GD-007-DMD Study Group; Spiegel R, Barth J, Elfring G, Reha A, Peltz SW. McDonald CM, et al. Muscle Nerve. 2013 Sep;48(3):357-68. doi: 10.1002/mus.23905. Epub 2013 Jul 17. Muscle Nerve. 2013. PMID: 23674289 Free PMC article. Clinical Trial.
Social paediatrics.
Spencer N, Colomer C, Alperstein G, Bouvier P, Colomer J, Duperrex O, Gokcay G, Julien G, Kohler L, Lindström B, Macfarlane A, Mercer R, Panagiotopoulos T, Schulpen T. Spencer N, et al. Among authors: colomer j. J Epidemiol Community Health. 2005 Feb;59(2):106-8. doi: 10.1136/jech.2003.017681. J Epidemiol Community Health. 2005. PMID: 15650140 Free PMC article.
[Sarcoglycanopathies].
Colomer J. Colomer J. Rev Neurol. 1999 Jan 16-31;28(2):150-3. Rev Neurol. 1999. PMID: 10101783 Review. Spanish.
Impact of COVID-19 infection on lung function and nutritional status amongst individuals with cystic fibrosis: A global cohort study.
Semenchuk J, Naito Y, Charman SC, Carr SB, Cheng SY, Marshall BC, Faro A, Elbert A, Gutierrez HH, Goss CH, Karadag B, Burgel PR, Colombo C, Salvatore M, Padoan R, Daneau G, Harutyunyan S, Kashirskaya N, Kirwan L, Middleton PG, Ruseckaite R, de Monestrol I, Naehrlich L, Mondejar-Lopez P, Jung A, van Rens J, Bakkeheim E, Orenti A, Zomer-van Ommen D, da Silva-Filho LVR, Fernandes FF, Zampoli M, Stephenson AL; Global CF Registry Collaboration. Semenchuk J, et al. J Cyst Fibros. 2024 Sep;23(5):815-822. doi: 10.1016/j.jcf.2024.07.019. Epub 2024 Aug 26. J Cyst Fibros. 2024. PMID: 39191560 Free article.
Clinicopathological features of genetically confirmed Danon disease.
Sugie K, Yamamoto A, Murayama K, Oh SJ, Takahashi M, Mora M, Riggs JE, Colomer J, Iturriaga C, Meloni A, Lamperti C, Saitoh S, Byrne E, DiMauro S, Nonaka I, Hirano M, Nishino I. Sugie K, et al. Among authors: colomer j. Neurology. 2002 Jun 25;58(12):1773-8. doi: 10.1212/wnl.58.12.1773. Neurology. 2002. PMID: 12084876 Review.
Vertical heterostructure of graphite-MoS2 for gas sensing.
Tripathi M, Deokar G, Casanova-Chafer J, Jin J, Sierra-Castillo A, Ogilvie SP, Lee F, Iyengar SA, Biswas A, Haye E, Genovese A, Llobet E, Colomer JF, Jurewicz I, Gadhamshetty V, Ajayan PM, Schwingenschlögl U, Costa PMFJ, Dalton AB. Tripathi M, et al. Among authors: colomer jf. Nanoscale Horiz. 2024 Jul 22;9(8):1330-1340. doi: 10.1039/d4nh00049h. Nanoscale Horiz. 2024. PMID: 38808602
Shear induced remobilization of buried synthetic microfibers.
Mancini M, Colomer J, Solari L, Serra T. Mancini M, et al. Among authors: colomer j. Environ Pollut. 2024 Nov 15;361:124864. doi: 10.1016/j.envpol.2024.124864. Epub 2024 Aug 31. Environ Pollut. 2024. PMID: 39222767 Free article.
256 results