학술논문
Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease
Document Type
Article
Author
Donkervoort, S.; Orbach, R.; Neto, O.L.A.; Foley, A.R.; Gorokhova, S.; Bolduc, V.; Hu, Y.; Acquaye, N.; Neuhaus, S.B.; Bönnemann, C.G.; Locht, M.V.D.; de Winter, J.M.; Conijn, S.; Hoomoedt, D.; Ferreira, L.F.; Ottenheijm, C.A.C.; Ronchi, D.; Comi, G.P.; Reunert, J.; Marquardt, T.; McLean, C.A.; Zaki, M.; Magri, F.; Viaene, A.N.; Napoli, L.; Zanotti, S.; Park, J.H.; Immadisetty, K.; Kekenes-Huskey, P.M.; Miles, L.B.; Bryson-Richardson, R.J.; Essawi, M.; ElBagoury, N.; Sharaf-Eldin, W.; McModie, S.; Medne, L.; Johnson, K.R.; Zhang, Y.; Laing, N.G.; Davis, M.R.; Ravenscroft, G.; Hwee, D.T.; Hartman, J.J.; Malik, F.I.
Source
In: Science Translational Medicine . (Science Translational Medicine, 2024, 16(741))
Subject
Language
English
ISSN
19466242
19466234
19466234