Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1993 | 1 |
2010 | 1 |
2012 | 1 |
2013 | 1 |
2019 | 2 |
2024 | 0 |
PubMed (OMIM) for id: 4604
6 results
Results by year
Filters applied: . Clear all
Page 1
Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis.
Hum Mutat. 2019 Aug;40(8):1115-1126. doi: 10.1002/humu.23760. Epub 2019 May 5.
Hum Mutat. 2019.
PMID: 31264822
Free PMC article.
Novel mutations in MYBPC1 are associated with myogenic tremor and mild myopathy.
Stavusis J, Lace B, Schäfer J, Geist J, Inashkina I, Kidere D, Pajusalu S, Wright NT, Saak A, Weinhold M, Haubenberger D, Jackson S, Kontrogianni-Konstantopoulos A, Bönnemann CG.
Stavusis J, et al.
Ann Neurol. 2019 Jul;86(1):129-142. doi: 10.1002/ana.25494. Epub 2019 May 17.
Ann Neurol. 2019.
PMID: 31025394
Free PMC article.
Item in Clipboard
MYBPC1 mutations impair skeletal muscle function in zebrafish models of arthrogryposis.
Ha K, Buchan JG, Alvarado DM, McCall K, Vydyanath A, Luther PK, Goldsmith MI, Dobbs MB, Gurnett CA.
Ha K, et al.
Hum Mol Genet. 2013 Dec 15;22(24):4967-77. doi: 10.1093/hmg/ddt344. Epub 2013 Jul 19.
Hum Mol Genet. 2013.
PMID: 23873045
Free PMC article.
Item in Clipboard
Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1.
Markus B, Narkis G, Landau D, Birk RZ, Cohen I, Birk OS.
Markus B, et al.
Hum Mutat. 2012 Oct;33(10):1435-8. doi: 10.1002/humu.22122. Epub 2012 Jun 7.
Hum Mutat. 2012.
PMID: 22610851
Item in Clipboard
Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1.
Gurnett CA, Desruisseau DM, McCall K, Choi R, Meyer ZI, Talerico M, Miller SE, Ju JS, Pestronk A, Connolly AM, Druley TE, Weihl CC, Dobbs MB.
Gurnett CA, et al.
Hum Mol Genet. 2010 Apr 1;19(7):1165-73. doi: 10.1093/hmg/ddp587. Epub 2010 Jan 2.
Hum Mol Genet. 2010.
PMID: 20045868
Free PMC article.
Item in Clipboard
Complete sequence of human fast-type and slow-type muscle myosin-binding-protein C (MyBP-C). Differential expression, conserved domain structure and chromosome assignment.
Weber FE, Vaughan KT, Reinach FC, Fischman DA.
Weber FE, et al.
Eur J Biochem. 1993 Sep 1;216(2):661-9. doi: 10.1111/j.1432-1033.1993.tb18186.x.
Eur J Biochem. 1993.
PMID: 8375400
Free article.
Item in Clipboard
Cite
Cite