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 Custom 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 4
2025 7

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

309 results

Results by year

Filters applied: . Clear all
Page 1
Showing results for kunkel lm
Search for Runkel LM instead (1 results)
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.
Missense variants in TUBA4A cause myo-tubulinopathies.
Johari M, Folland C, Saito Y, Oud MM, Parmar JM, Töpf A, Kurbatov S, Ampleeva M, Zakharova EY, Chekmareva IA, Shirokova KS, Atiakshin D, Gardeitchik T, Kamsteeg EJ, Medici E, Kaat LD, Bruels CC, Stafki SA, Estrella EA, Littel HR, Kunkel LM, Kang PB, Osei-Owusu I, Pais L, O'Leary M, Austin-Tse C, O'Donnell-Luria A, Mangilog B, Radio FC, D'Amico A, Ciolfi A, Tartaglia M, Perrin A, Van Goethem C, Sole G, Martin-Négrier ML, Cossée M, Genetti CA, Valivullah ZM, Milic V, Kovacevic G, Kosac A, Moreno CAM, Camelo CG, Zanoteli E, Fahey MC, Beggs AH, Vissing J, Straub V, Savarese M, Tasca G, Voermans N, Laing NG, Udd B, Nishino I, Ravenscroft G. Johari M, et al. Among authors: kunkel lm. medRxiv [Preprint]. 2025 Jun 28:2025.06.26.25330266. doi: 10.1101/2025.06.26.25330266. medRxiv. 2025. PMID: 40666348 Free PMC article. Preprint.
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.
Muscle-specific increased expression of JAG1 improves skeletal muscle phenotype in dystrophin-deficient mice.
de Souza Leite F, Lambert MR, Zhang TY, Conner JR, Paulo JA, Oliveira SF, Thakurta S, Bowles J, Gussoni E, Gygi SP, Widrick JJ, Kunkel LM. de Souza Leite F, et al. Among authors: kunkel lm. bioRxiv [Preprint]. 2025 Mar 14:2025.03.12.642857. doi: 10.1101/2025.03.12.642857. bioRxiv. 2025. Update in: Proc Natl Acad Sci U S A. 2025 Sep 30;122(39):e2506437122. doi: 10.1073/pnas.2506437122. PMID: 40161820 Free PMC article. Updated. Preprint.
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.
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.
Effects of HMG CoA reductase (HMGCR) deficiency on skeletal muscle development.
Gunasekaran M, Littel HR, Wells NM, Turner J, Campos G, Venigalla S, Estrella EA, Ghosh PS, Daugherty AL, Stafki SA, Kunkel LM, Foley AR, Donkervoort S, Bönnemann CG, Toledo-Bravo de Laguna L, Nascimento A, Natera-de Benito D, Draper I, Bruels CC, Pacak CA, Kang PB. Gunasekaran M, et al. Among authors: kunkel lm. FEBS J. 2025 Sep;292(18):4854-4869. doi: 10.1111/febs.17406. Epub 2025 Jan 16. FEBS J. 2025. PMID: 39823152 Free PMC article.
309 results