Author Ravenscroft, Gianina
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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
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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
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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
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