Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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 4
2023 2
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

299 results

Results by year

Filters applied: . Clear all
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.
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.
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.
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.
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.
Nascimento A, Bruels CC, Donkervoort S, Foley AR, Codina A, Milisenda JC, Estrella EA, Li C, Pijuan J, Draper I, Hu Y, Stafki SA, Pais LS, Ganesh VS, O'Donnell-Luria A, Syeda SB, Carrera-García L, Expósito-Escudero J, Yubero D, Martorell L, Pinal-Fernandez I, Lidov HGW, Mammen AL, Grau-Junyent JM, Ortez C, Palau F, Ghosh PS, Darras BT, Jou C, Kunkel LM, Hoenicka J, Bönnemann CG, Kang PB, Natera-de Benito D. Nascimento A, et al. Among authors: kunkel lm. Acta Neuropathol. 2023 Apr;145(4):479-496. doi: 10.1007/s00401-023-02551-7. Epub 2023 Feb 17. Acta Neuropathol. 2023. PMID: 36799992 Free PMC article.
Improved diagnosis of Duchenne/Becker muscular dystrophy.
Beggs AH, Kunkel LM. Beggs AH, et al. Among authors: kunkel lm. J Clin Invest. 1990 Mar;85(3):613-9. doi: 10.1172/JCI114482. J Clin Invest. 1990. PMID: 1968908 Free PMC article. Review. No abstract available.
Minimal haplotype tagging.
Sebastiani P, Lazarus R, Weiss ST, Kunkel LM, Kohane IS, Ramoni MF. Sebastiani P, et al. Among authors: kunkel lm. Proc Natl Acad Sci U S A. 2003 Aug 19;100(17):9900-5. doi: 10.1073/pnas.1633613100. Epub 2003 Aug 4. Proc Natl Acad Sci U S A. 2003. PMID: 12900503 Free PMC article.
299 results