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

Year Number of Results
1973 1
1975 1
1976 1
1977 1
1978 1
1979 2
1982 4
1983 1
1984 2
1985 9
1986 10
1987 11
1988 13
1989 16
1990 9
1991 9
1992 12
1993 4
1994 5
1995 8
1996 11
1997 11
1998 8
1999 4
2000 5
2001 9
2002 8
2003 13
2004 9
2005 5
2006 7
2007 10
2008 2
2009 10
2010 4
2011 8
2012 12
2013 11
2014 7
2015 7
2016 8
2017 2
2018 3
2019 5
2020 4
2021 3
2022 0
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Article type
Publication date

Search Results

292 results
Results by year
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Page 1
POLRMT mutations impair mitochondrial transcription causing neurological disease.
Oláhová M, Peter B, Szilagyi Z, Diaz-Maldonado H, Singh M, Sommerville EW, Blakely EL, Collier JJ, Hoberg E, Stránecký V, Hartmannová H, Bleyer AJ, McBride KL, Bowden SA, Korandová Z, Pecinová A, Ropers HH, Kahrizi K, Najmabadi H, Tarnopolsky MA, Brady LI, Weaver KN, Prada CE, Õunap K, Wojcik MH, Pajusalu S, Syeda SB, Pais L, Estrella EA, Bruels CC, Kunkel LM, Kang PB, Bonnen PE, Mráček T, Kmoch S, Gorman GS, Falkenberg M, Gustafsson CM, Taylor RW. Oláhová M, et al. Among authors: kunkel lm. Nat Commun. 2021 Feb 18;12(1):1135. doi: 10.1038/s41467-021-21279-0. Nat Commun. 2021. PMID: 33602924 Free PMC article.
A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency.
Jabara HH, Boyden SE, Chou J, Ramesh N, Massaad MJ, Benson H, Bainter W, Fraulino D, Rahimov F, Sieff C, Liu ZJ, Alshemmari SH, Al-Ramadi BK, Al-Dhekri H, Arnaout R, Abu-Shukair M, Vatsayan A, Silver E, Ahuja S, Davies EG, Sola-Visner M, Ohsumi TK, Andrews NC, Notarangelo LD, Fleming MD, Al-Herz W, Kunkel LM, Geha RS. Jabara HH, et al. Among authors: kunkel lm. Nat Genet. 2016 Jan;48(1):74-8. doi: 10.1038/ng.3465. Epub 2015 Dec 7. Nat Genet. 2016. PMID: 26642240 Free PMC article.
Emerging preclinical animal models for FSHD.
Lek A, Rahimov F, Jones PL, Kunkel LM. Lek A, et al. Among authors: kunkel lm. Trends Mol Med. 2015 May;21(5):295-306. doi: 10.1016/j.molmed.2015.02.011. Epub 2015 Mar 20. Trends Mol Med. 2015. PMID: 25801126 Free PMC article. Review.
Dystrophin and its isoforms.
Sadoulet-Puccio HM, Kunkel LM. Sadoulet-Puccio HM, et al. Among authors: kunkel lm. Brain Pathol. 1996 Jan;6(1):25-35. doi: 10.1111/j.1750-3639.1996.tb00780.x. Brain Pathol. 1996. PMID: 8866745 Review. No abstract available.
Dystrophies and heart disease.
Cox GF, Kunkel LM. Cox GF, et al. Among authors: kunkel lm. Curr Opin Cardiol. 1997 May;12(3):329-43. Curr Opin Cardiol. 1997. PMID: 9243091 Review.
The Pathogenesis and Therapy of Muscular Dystrophies.
Guiraud S, Aartsma-Rus A, Vieira NM, Davies KE, van Ommen GJ, Kunkel LM. Guiraud S, et al. Among authors: kunkel lm. Annu Rev Genomics Hum Genet. 2015;16:281-308. doi: 10.1146/annurev-genom-090314-025003. Epub 2015 Jun 4. Annu Rev Genomics Hum Genet. 2015. PMID: 26048046 Review.
Modeling human muscle disease in zebrafish.
Guyon JR, Steffen LS, Howell MH, Pusack TJ, Lawrence C, Kunkel LM. Guyon JR, et al. Among authors: kunkel lm. Biochim Biophys Acta. 2007 Feb;1772(2):205-15. doi: 10.1016/j.bbadis.2006.07.003. Epub 2006 Jul 20. Biochim Biophys Acta. 2007. PMID: 16934958 Free article. Review.
292 results