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- [21] A premature stop codon in MYO18B is associated with severe nemaline myopathy with cardiomyopathyNEUROMUSCULAR DISORDERS, 2015, 25 : S186 - S186Malfatti, E.论文数: 0 引用数: 0 h-index: 0机构: Inst Myol, Unite Morphol Neuromusculaire, Paris, France Inst Myol, Unite Morphol Neuromusculaire, Paris, FranceBoehm, J.论文数: 0 引用数: 0 h-index: 0机构: IGBMC, Dept Translat Med, Illkirch Graffenstaden, France Inst Myol, Unite Morphol Neuromusculaire, Paris, FranceLacene, E.论文数: 0 引用数: 0 h-index: 0机构: Inst Myol, Unite Morphol Neuromusculaire, Paris, France Inst Myol, Unite Morphol Neuromusculaire, Paris, FranceRomero, N.论文数: 0 引用数: 0 h-index: 0机构: Inst Myol, Unite Morphol Neuromusculaire, Paris, France Inst Myol, Unite Morphol Neuromusculaire, Paris, FranceLaporte, J.论文数: 0 引用数: 0 h-index: 0机构: IGBMC, Dept Translat Med, Illkirch Graffenstaden, France Inst Myol, Unite Morphol Neuromusculaire, Paris, France
- [22] Variable presentation of nemaline myopathy: Novel mutation of alpha actin geneMUSCLE & NERVE, 2007, 35 (02) : 254 - 258Bouldin, Anthony A.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Neurol, Div Pediat Neurol, Seattle, WA 98105 USAParisi, Melissa A.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Neurol, Div Pediat Neurol, Seattle, WA 98105 USALaing, Nigel论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Neurol, Div Pediat Neurol, Seattle, WA 98105 USAPatterson, Kathleen论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Neurol, Div Pediat Neurol, Seattle, WA 98105 USAGospe, Sidney M., Jr.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Neurol, Div Pediat Neurol, Seattle, WA 98105 USA
- [23] α-Skeletal muscle actin nemaline myopathy mutants cause cell death in cultured muscle cellsBIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH, 2009, 1793 (07): : 1259 - 1271Vandamme, Drieke论文数: 0 引用数: 0 h-index: 0机构: Univ Ghent, Dept Biochem, Fac Med & Hlth Sci, B-9000 Ghent, Belgium VIB, Dept Med Prot Res, Ghent, Belgium Univ Ghent, Dept Biochem, Fac Med & Hlth Sci, B-9000 Ghent, BelgiumLambert, Ellen论文数: 0 引用数: 0 h-index: 0机构: Univ Ghent, Dept Biochem, Fac Med & Hlth Sci, B-9000 Ghent, Belgium VIB, Dept Med Prot Res, Ghent, Belgium Univ Ghent, Dept Biochem, Fac Med & Hlth Sci, B-9000 Ghent, BelgiumWaterschoot, Davy论文数: 0 引用数: 0 h-index: 0机构: Univ Ghent, Dept Biochem, Fac Med & Hlth Sci, B-9000 Ghent, Belgium VIB, Dept Med Prot Res, Ghent, Belgium Univ Ghent, Dept Biochem, Fac Med & Hlth Sci, B-9000 Ghent, BelgiumCognard, Christian论文数: 0 引用数: 0 h-index: 0机构: Univ Poitiers, CNRS, UMR 6187, Inst Physiol & Biol Cellulaire, F-86022 Poitiers, France Univ Ghent, Dept Biochem, Fac Med & Hlth Sci, B-9000 Ghent, BelgiumVandekerckhove, Joel论文数: 0 引用数: 0 h-index: 0机构: Univ Ghent, Dept Biochem, Fac Med & Hlth Sci, B-9000 Ghent, Belgium VIB, Dept Med Prot Res, Ghent, Belgium Univ Ghent, Dept Biochem, Fac Med & Hlth Sci, B-9000 Ghent, BelgiumAmpe, Christophe论文数: 0 引用数: 0 h-index: 0机构: Univ Ghent, Dept Biochem, Fac Med & Hlth Sci, B-9000 Ghent, Belgium VIB, Dept Med Prot Res, Ghent, Belgium Univ Ghent, Dept Biochem, Fac Med & Hlth Sci, B-9000 Ghent, BelgiumConstantin, Bruno论文数: 0 引用数: 0 h-index: 0机构: Univ Poitiers, CNRS, UMR 6187, Inst Physiol & Biol Cellulaire, F-86022 Poitiers, France Univ Ghent, Dept Biochem, Fac Med & Hlth Sci, B-9000 Ghent, BelgiumRommelaere, Heidi论文数: 0 引用数: 0 h-index: 0机构: Univ Ghent, Dept Biochem, Fac Med & Hlth Sci, B-9000 Ghent, Belgium VIB, Dept Med Prot Res, Ghent, Belgium Univ Ghent, Dept Biochem, Fac Med & Hlth Sci, B-9000 Ghent, Belgium
- [24] Mutations in the nebulin gene can cause severe congenital nemaline myopathyNEUROMUSCULAR DISORDERS, 2002, 12 (7-8) : 674 - 679Wallgren-Pettersson, C论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Med Genet, Helsinki 0251, FinlandDonner, K论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Med Genet, Helsinki 0251, FinlandSewry, C论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Med Genet, Helsinki 0251, FinlandBijlsma, E论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Med Genet, Helsinki 0251, FinlandLammens, M论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Med Genet, Helsinki 0251, FinlandBushby, K论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Med Genet, Helsinki 0251, FinlandUzielli, MLG论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Med Genet, Helsinki 0251, FinlandLapi, E论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Med Genet, Helsinki 0251, FinlandOdent, S论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Med Genet, Helsinki 0251, FinlandAkcoren, Z论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Med Genet, Helsinki 0251, FinlandTopaloglu, H论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Med Genet, Helsinki 0251, FinlandPelin, K论文数: 0 引用数: 0 h-index: 0机构: Univ Helsinki, Dept Med Genet, Helsinki 0251, Finland
- [25] Mutations in LMOD3 cause severe nemaline myopathy by disrupting thin filament organisation in skeletal muscleNEUROMUSCULAR DISORDERS, 2014, 24 (9-10) : 792 - 793Kreissl, M.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, Australia Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, AustraliaSandaradura, S. A.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, Australia Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, AustraliaDowling, J. J.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Med Ctr, Dept Pediat, Ann Arbor, MI 48109 USA Univ Michigan, Med Ctr, Dept Neurol, Ann Arbor, MI 48109 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, AustraliaKostyukova, A. S.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, Australia Univ Michigan, Med Ctr, Dept Pediat, Ann Arbor, MI 48109 USA Univ Michigan, Med Ctr, Dept Neurol, Ann Arbor, MI 48109 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, AustraliaMoroz, N.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, Australia Univ Michigan, Med Ctr, Dept Pediat, Ann Arbor, MI 48109 USA Univ Michigan, Med Ctr, Dept Neurol, Ann Arbor, MI 48109 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, AustraliaQuinlan, K. G.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, Australia Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, AustraliaLehtokari, V.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, Australia Univ Michigan, Med Ctr, Dept Pediat, Ann Arbor, MI 48109 USA Univ Michigan, Med Ctr, Dept Neurol, Ann Arbor, MI 48109 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, AustraliaRavenscroft, G.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, Australia Univ Michigan, Med Ctr, Dept Pediat, Ann Arbor, MI 48109 USA Univ Michigan, Med Ctr, Dept Neurol, Ann Arbor, MI 48109 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, AustraliaTodd, E. J.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, Australia Univ Michigan, Med Ctr, Dept Pediat, Ann Arbor, MI 48109 USA Univ Michigan, Med Ctr, Dept Neurol, Ann Arbor, MI 48109 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, AustraliaCeyhan-Birsoy, O.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, Australia Univ Michigan, Med Ctr, Dept Pediat, Ann Arbor, MI 48109 USA Univ Michigan, Med Ctr, Dept Neurol, Ann Arbor, MI 48109 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, AustraliaGokhin, D. S.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, Australia Univ Michigan, Med Ctr, Dept Pediat, Ann Arbor, MI 48109 USA Univ Michigan, Med Ctr, Dept Neurol, Ann Arbor, MI 48109 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, AustraliaMaluenda, J.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, Australia Univ Michigan, Med Ctr, Dept Pediat, Ann Arbor, MI 48109 USA Univ Michigan, Med Ctr, Dept Neurol, Ann Arbor, MI 48109 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, AustraliaLek, M.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, Australia Univ Michigan, Med Ctr, Dept Pediat, Ann Arbor, MI 48109 USA Univ Michigan, Med Ctr, Dept Neurol, Ann Arbor, MI 48109 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, AustraliaNolent, F.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, Australia Univ Michigan, Med Ctr, Dept Pediat, Ann Arbor, MI 48109 USA Univ Michigan, Med Ctr, Dept Neurol, Ann Arbor, MI 48109 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, AustraliaPappas, C. T.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, Australia Univ Michigan, Med Ctr, Dept Pediat, Ann Arbor, MI 48109 USA Univ Michigan, Med Ctr, Dept Neurol, Ann Arbor, MI 48109 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, AustraliaNovak, S. M.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, Australia Univ Michigan, Med Ctr, Dept Pediat, Ann Arbor, MI 48109 USA Univ Michigan, Med Ctr, Dept Neurol, Ann Arbor, MI 48109 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, AustraliaD'Amico, A.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, Australia Univ Michigan, Med Ctr, Dept Pediat, Ann Arbor, MI 48109 USA Univ Michigan, Med Ctr, Dept Neurol, Ann Arbor, MI 48109 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, AustraliaMalfatti, E.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, Australia Univ Michigan, Med Ctr, Dept Pediat, Ann Arbor, MI 48109 USA Univ Michigan, Med Ctr, Dept Neurol, Ann Arbor, MI 48109 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, AustraliaThomas, B. P.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, Australia Univ Michigan, Med Ctr, Dept Pediat, Ann Arbor, MI 48109 USA Univ Michigan, Med Ctr, Dept Neurol, Ann Arbor, MI 48109 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, AustraliaGabriel, S. B.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, Australia Univ Michigan, Med Ctr, Dept Pediat, Ann Arbor, MI 48109 USA Univ Michigan, Med Ctr, Dept Neurol, Ann Arbor, MI 48109 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, AustraliaGupta, N.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, Australia Univ Michigan, Med Ctr, Dept Pediat, Ann Arbor, MI 48109 USA Univ Michigan, Med Ctr, Dept Neurol, Ann Arbor, MI 48109 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, AustraliaDaly, M. J.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, Australia Univ Michigan, Med Ctr, Dept Pediat, Ann Arbor, MI 48109 USA Univ Michigan, Med Ctr, Dept Neurol, Ann Arbor, MI 48109 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, AustraliaIlkovski, B.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, Australia Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, AustraliaHouweling, P. J.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, Australia Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, AustraliaSwanson, L. C.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, Australia Univ Michigan, Med Ctr, Dept Pediat, Ann Arbor, MI 48109 USA Univ Michigan, Med Ctr, Dept Neurol, Ann Arbor, MI 48109 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, AustraliaBrownstein, C. A.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, Australia Univ Michigan, Med Ctr, Dept Pediat, Ann Arbor, MI 48109 USA Univ Michigan, Med Ctr, Dept Neurol, Ann Arbor, MI 48109 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, AustraliaGupta, V. A.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, Australia Univ Michigan, Med Ctr, Dept Pediat, Ann Arbor, MI 48109 USA Univ Michigan, Med Ctr, Dept Neurol, Ann Arbor, MI 48109 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, AustraliaMedne, L.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, Australia Univ Michigan, Med Ctr, Dept Pediat, Ann Arbor, MI 48109 USA Univ Michigan, Med Ctr, Dept Neurol, Ann Arbor, MI 48109 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, AustraliaShannon, P.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, Australia Univ Michigan, Med Ctr, Dept Pediat, Ann Arbor, MI 48109 USA Univ Michigan, Med Ctr, Dept Neurol, Ann Arbor, MI 48109 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, AustraliaFlisberg, A.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, Australia Univ Michigan, Med Ctr, Dept Pediat, Ann Arbor, MI 48109 USA Univ Michigan, Med Ctr, Dept Neurol, Ann Arbor, MI 48109 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, AustraliaHolmberg, E.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, Australia Univ Michigan, Med Ctr, Dept Pediat, Ann Arbor, MI 48109 USA Univ Michigan, Med Ctr, Dept Neurol, Ann Arbor, MI 48109 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, AustraliaVan den Bergh, P.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, Australia Univ Michigan, Med Ctr, Dept Pediat, Ann Arbor, MI 48109 USA Univ Michigan, Med Ctr, Dept Neurol, Ann Arbor, MI 48109 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, AustraliaLapunzina, P.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, Australia Univ Michigan, Med Ctr, Dept Pediat, Ann Arbor, MI 48109 USA Univ Michigan, Med Ctr, Dept Neurol, Ann Arbor, MI 48109 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, AustraliaWaddell, L. B.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, Australia Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, AustraliaSloboda, D. D.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, Australia Univ Michigan, Med Ctr, Dept Pediat, Ann Arbor, MI 48109 USA Univ Michigan, Med Ctr, Dept Neurol, Ann Arbor, MI 48109 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, AustraliaBertini, E.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, Australia Univ Michigan, Med Ctr, Dept Pediat, Ann Arbor, MI 48109 USA Univ Michigan, Med Ctr, Dept Neurol, Ann Arbor, MI 48109 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, AustraliaChitayat, D.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, Australia Univ Michigan, Med Ctr, Dept Pediat, Ann Arbor, MI 48109 USA Univ Michigan, Med Ctr, Dept Neurol, Ann Arbor, MI 48109 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, AustraliaTelfer, W. R.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Med Ctr, Dept Pediat, Ann Arbor, MI 48109 USA Univ Michigan, Med Ctr, Dept Neurol, Ann Arbor, MI 48109 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, AustraliaLaquerriere, A.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, Australia Univ Michigan, Med Ctr, Dept Pediat, Ann Arbor, MI 48109 USA Univ Michigan, Med Ctr, Dept Neurol, Ann Arbor, MI 48109 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, AustraliaGregorio, C. C.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, Australia Univ Michigan, Med Ctr, Dept Pediat, Ann Arbor, MI 48109 USA Univ Michigan, Med Ctr, Dept Neurol, Ann Arbor, MI 48109 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, AustraliaOttenheijm, C. A. C.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, Australia Univ Michigan, Med Ctr, Dept Pediat, Ann Arbor, MI 48109 USA Univ Michigan, Med Ctr, Dept Neurol, Ann Arbor, MI 48109 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, AustraliaBoennemann, C. G.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, Australia Univ Michigan, Med Ctr, Dept Pediat, Ann Arbor, MI 48109 USA Univ Michigan, Med Ctr, Dept Neurol, Ann Arbor, MI 48109 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, AustraliaPelin, K.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, Australia Univ Michigan, Med Ctr, Dept Pediat, Ann Arbor, MI 48109 USA Univ Michigan, Med Ctr, Dept Neurol, Ann Arbor, MI 48109 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, AustraliaBeggs, A. H.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, Australia Univ Michigan, Med Ctr, Dept Pediat, Ann Arbor, MI 48109 USA Univ Michigan, Med Ctr, Dept Neurol, Ann Arbor, MI 48109 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, AustraliaHayashi, Y. K.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, Australia Univ Michigan, Med Ctr, Dept Pediat, Ann Arbor, MI 48109 USA Univ Michigan, Med Ctr, Dept Neurol, Ann Arbor, MI 48109 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, AustraliaRomero, N. B.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, Australia Univ Michigan, Med Ctr, Dept Pediat, Ann Arbor, MI 48109 USA Univ Michigan, Med Ctr, Dept Neurol, Ann Arbor, MI 48109 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, AustraliaLaing, N. G.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, Australia Univ Michigan, Med Ctr, Dept Pediat, Ann Arbor, MI 48109 USA Univ Michigan, Med Ctr, Dept Neurol, Ann Arbor, MI 48109 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, AustraliaNishino, I.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, Australia Univ Michigan, Med Ctr, Dept Pediat, Ann Arbor, MI 48109 USA Univ Michigan, Med Ctr, Dept Neurol, Ann Arbor, MI 48109 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, AustraliaWallgren-Pettersson, C.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, Australia Univ Michigan, Med Ctr, Dept Pediat, Ann Arbor, MI 48109 USA Univ Michigan, Med Ctr, Dept Neurol, Ann Arbor, MI 48109 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, AustraliaMelki, J.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, Australia Univ Michigan, Med Ctr, Dept Pediat, Ann Arbor, MI 48109 USA Univ Michigan, Med Ctr, Dept Neurol, Ann Arbor, MI 48109 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW, Australia
- [26] Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2AMERICAN JOURNAL OF HUMAN GENETICS, 2007, 80 (01) : 162 - 167Agrawal, Pankaj B.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Div Genet, Dept Med, Boston, MA 02115 USAGreenleaf, Rebecca S.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Div Genet, Dept Med, Boston, MA 02115 USATomczak, Kinga K.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Div Genet, Dept Med, Boston, MA 02115 USALehtokari, Vilma-Lotta论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Div Genet, Dept Med, Boston, MA 02115 USAWallgren-Pettersson, Carina论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Div Genet, Dept Med, Boston, MA 02115 USAWallefeld, William论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Div Genet, Dept Med, Boston, MA 02115 USALaing, Nigel G.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Div Genet, Dept Med, Boston, MA 02115 USADarras, Basil T.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Div Genet, Dept Med, Boston, MA 02115 USAMaciver, Sutherland K.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Div Genet, Dept Med, Boston, MA 02115 USADormitzer, Philip R.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Div Genet, Dept Med, Boston, MA 02115 USABeggs, Alan H.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Div Genet, Dept Med, Boston, MA 02115 USA
- [27] Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle α-actin (ACTA1) geneNEUROMUSCULAR DISORDERS, 2001, 11 (01) : 35 - 40Jungbluth, H论文数: 0 引用数: 0 h-index: 0机构: Hammersmith Hosp, Imperial Coll Sch Med, Neuromuscular Unit, Dept Paediat & Neonatal Med, London W12 0NN, EnglandSewry, CA论文数: 0 引用数: 0 h-index: 0机构: Hammersmith Hosp, Imperial Coll Sch Med, Neuromuscular Unit, Dept Paediat & Neonatal Med, London W12 0NN, EnglandBrown, SC论文数: 0 引用数: 0 h-index: 0机构: Hammersmith Hosp, Imperial Coll Sch Med, Neuromuscular Unit, Dept Paediat & Neonatal Med, London W12 0NN, EnglandNowak, KJ论文数: 0 引用数: 0 h-index: 0机构: Hammersmith Hosp, Imperial Coll Sch Med, Neuromuscular Unit, Dept Paediat & Neonatal Med, London W12 0NN, EnglandLaing, NG论文数: 0 引用数: 0 h-index: 0机构: Hammersmith Hosp, Imperial Coll Sch Med, Neuromuscular Unit, Dept Paediat & Neonatal Med, London W12 0NN, EnglandWallgren-Pettersson, C论文数: 0 引用数: 0 h-index: 0机构: Hammersmith Hosp, Imperial Coll Sch Med, Neuromuscular Unit, Dept Paediat & Neonatal Med, London W12 0NN, EnglandPelin, K论文数: 0 引用数: 0 h-index: 0机构: Hammersmith Hosp, Imperial Coll Sch Med, Neuromuscular Unit, Dept Paediat & Neonatal Med, London W12 0NN, EnglandManzur, AY论文数: 0 引用数: 0 h-index: 0机构: Hammersmith Hosp, Imperial Coll Sch Med, Neuromuscular Unit, Dept Paediat & Neonatal Med, London W12 0NN, EnglandMercuri, E论文数: 0 引用数: 0 h-index: 0机构: Hammersmith Hosp, Imperial Coll Sch Med, Neuromuscular Unit, Dept Paediat & Neonatal Med, London W12 0NN, EnglandDubowitz, V论文数: 0 引用数: 0 h-index: 0机构: Hammersmith Hosp, Imperial Coll Sch Med, Neuromuscular Unit, Dept Paediat & Neonatal Med, London W12 0NN, EnglandMuntoni, F论文数: 0 引用数: 0 h-index: 0机构: Hammersmith Hosp, Imperial Coll Sch Med, Neuromuscular Unit, Dept Paediat & Neonatal Med, London W12 0NN, England
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- [29] Zebra body myopathy is caused by a mutation in the skeletal muscle actin gene (ACTA1)NEUROMUSCULAR DISORDERS, 2015, 25 (05) : 388 - 391Sewry, C. A.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England Hosp Children, London, England RJAH Orthopaed Hosp, Wolfson Ctr Inherited Neuromuscular Dis, Oswestry, Shrops, England UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, EnglandHolton, J. L.论文数: 0 引用数: 0 h-index: 0机构: Inst Neurol, London WC1N 3BG, England UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, EnglandDick, D. J.论文数: 0 引用数: 0 h-index: 0机构: Norfolk & Norwich Univ Hosp, Norwich, Norfolk, England UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, EnglandMuntoni, F.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England Hosp Children, London, England UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, EnglandHanna, M. G.论文数: 0 引用数: 0 h-index: 0机构: Inst Neurol, London WC1N 3BG, England UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England
- [30] Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene.NEW ENGLAND JOURNAL OF MEDICINE, 2000, 342 (11): : 770 - 780Dalakas, MC论文数: 0 引用数: 0 h-index: 0机构: NINDS, Neuromuscular Dis Sect, NIH, Bethesda, MD 20892 USAPark, KY论文数: 0 引用数: 0 h-index: 0机构: NINDS, Neuromuscular Dis Sect, NIH, Bethesda, MD 20892 USASemino-Mora, C论文数: 0 引用数: 0 h-index: 0机构: NINDS, Neuromuscular Dis Sect, NIH, Bethesda, MD 20892 USALee, HS论文数: 0 引用数: 0 h-index: 0机构: NINDS, Neuromuscular Dis Sect, NIH, Bethesda, MD 20892 USASivakumar, K论文数: 0 引用数: 0 h-index: 0机构: NINDS, Neuromuscular Dis Sect, NIH, Bethesda, MD 20892 USAGoldfarb, LG论文数: 0 引用数: 0 h-index: 0机构: NINDS, Neuromuscular Dis Sect, NIH, Bethesda, MD 20892 USA