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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2002 | 1 |
2003 | 1 |
2010 | 2 |
2020 | 1 |
2024 | 0 |
PubMed (OMIM) for id: 390594
5 results
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Page 1
KBTBD13 is an actin-binding protein that modulates muscle kinetics.
J Clin Invest. 2020 Feb 3;130(2):754-767. doi: 10.1172/JCI124000.
J Clin Invest. 2020.
PMID: 31671076
Free PMC article.
Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores.
Sambuughin N, Yau KS, Olivé M, Duff RM, Bayarsaikhan M, Lu S, Gonzalez-Mera L, Sivadorai P, Nowak KJ, Ravenscroft G, Mastaglia FL, North KN, Ilkovski B, Kremer H, Lammens M, van Engelen BG, Fabian V, Lamont P, Davis MR, Laing NG, Goldfarb LG.
Sambuughin N, et al.
Am J Hum Genet. 2010 Dec 10;87(6):842-7. doi: 10.1016/j.ajhg.2010.10.020. Epub 2010 Nov 25.
Am J Hum Genet. 2010.
PMID: 21109227
Free PMC article.
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Nemaline myopathy type 6: clinical and myopathological features.
Olivé M, Goldfarb LG, Lee HS, Odgerel Z, Blokhin A, Gonzalez-Mera L, Moreno D, Laing NG, Sambuughin N.
Olivé M, et al.
Muscle Nerve. 2010 Dec;42(6):901-7. doi: 10.1002/mus.21788.
Muscle Nerve. 2010.
PMID: 21104864
Free PMC article.
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A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions.
Gommans IM, Davis M, Saar K, Lammens M, Mastaglia F, Lamont P, van Duijnhoven G, ter Laak HJ, Reis A, Vogels OJ, Laing N, van Engelen BG, Kremer H.
Gommans IM, et al.
Brain. 2003 Jul;126(Pt 7):1545-51. doi: 10.1093/brain/awg162. Epub 2003 Jun 4.
Brain. 2003.
PMID: 12805120
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A new phenotype of autosomal dominant nemaline myopathy.
Gommans IM, van Engelen BG, ter Laak HJ, Brunner HG, Kremer H, Lammens M, Vogels OJ.
Gommans IM, et al.
Neuromuscul Disord. 2002 Jan;12(1):13-8. doi: 10.1016/s0960-8966(01)00231-0.
Neuromuscul Disord. 2002.
PMID: 11731279
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