Author Ravenscroft, Gianina

1 to 3 of 3 Items
  • 2018 | Journal Article | 
    ​ ​Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence​
    Bonnin, E.; Cabochette, P.; Filosa, A.; Jühlen, R.; Komatsuzaki, S.; Hezwani, M. & Dickmanns, A. et al.​ (2018) 
    PLOS Genetics, 14(12) art. e1007845​.​ DOI: https://doi.org/10.1371/journal.pgen.1007845 
    ​Details  DOI  PMID  PMC 
  • 2015 | Journal Article
    ​ ​Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres​
    Yuen, M.; Cooper, S. T.; Marston, S.; Nowak, K. J.; McNamara, E.; Mokbel, N. & Ilkovski, B. et al.​ (2015) 
    Human Molecular Genetics, 24(22) pp. 6278​-6292​.​ DOI: https://doi.org/10.1093/hmg/ddv334 
    ​Details  DOI  PMID  PMC  WoS 
  • 2013 | Journal Article
    ​ ​Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy​
    Ravenscroft, G.; Miyatake, S.; Lehtokari, V.-L.; Todd, E. J.; Vomauen, P.; Yau, K. S. & Hayashi, Y. K. et al.​ (2013) 
    The American Journal of Human Genetics, 93(1) pp. 6​-18​.​ DOI: https://doi.org/10.1016/j.ajhg.2013.05.004 
    ​Details  DOI  PMID  PMC  WoS 

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