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- [1] ACTA1-related cardiomyopathy: emerging genotypic and phenotypic patterns among patients with ACTA1-related myopathy with cardiac involvementNEUROMUSCULAR DISORDERS, 2024, 43McAnally, M.论文数: 0 引用数: 0 h-index: 0机构: NINDS, Neuromuscular & Neurogenet Disorders Childhood Se, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA NINDS, Neuromuscular & Neurogenet Disorders Childhood Se, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USAPotticary, A.论文数: 0 引用数: 0 h-index: 0机构: NINDS, Neuromuscular & Neurogenet Disorders Childhood Se, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA NINDS, Neuromuscular & Neurogenet Disorders Childhood Se, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USAHayes, L.论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Dept Neurol, Manton Ctr Orphan Dis Res, Boston, MA 02115 USA NINDS, Neuromuscular & Neurogenet Disorders Childhood Se, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USAClayton, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Harry Perkins Inst Med Res, QEII Med Ctr, Ctr Med Res, Nedlands, WA, Australia NINDS, Neuromuscular & Neurogenet Disorders Childhood Se, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USAHaliloglu, G.论文数: 0 引用数: 0 h-index: 0机构: Hacettepe Univ, Div Pediat Neurol, Dept Pediat, Fac Med, Ankara, Turkiye NINDS, Neuromuscular & Neurogenet Disorders Childhood Se, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USADonkervoort, S.论文数: 0 引用数: 0 h-index: 0机构: NINDS, Neuromuscular & Neurogenet Disorders Childhood Se, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA NINDS, Neuromuscular & Neurogenet Disorders Childhood Se, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USAYang, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado, Sch Med, Childrens Hosp Colorado, Dept Pediat & Neurol, Aurora, CO USA NINDS, Neuromuscular & Neurogenet Disorders Childhood Se, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USAGibbons, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado, Sch Med, Childrens Hosp Colorado, Dept Pediat Clin Genet & Metab, Aurora, CO USA NINDS, Neuromuscular & Neurogenet Disorders Childhood Se, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USAGross, B.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Neurol, Philadelphia, PA 19104 USA NINDS, Neuromuscular & Neurogenet Disorders Childhood Se, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USAFoley, A.论文数: 0 引用数: 0 h-index: 0机构: NINDS, Neuromuscular & Neurogenet Disorders Childhood Se, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA NINDS, Neuromuscular & Neurogenet Disorders Childhood Se, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USAGuglieri, M.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Hosp NHS Fdn Trusts, Newcastle Upon Tyne, Tyne & Wear, England NINDS, Neuromuscular & Neurogenet Disorders Childhood Se, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USALee, T.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Pediat, Med Ctr, New York, NY 10027 USA NINDS, Neuromuscular & Neurogenet Disorders Childhood Se, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USAMunot, P.论文数: 0 引用数: 0 h-index: 0机构: UCL Great Ormond St Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England Great Ormond St Hosp Sick Children, London, England NINDS, Neuromuscular & Neurogenet Disorders Childhood Se, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USASarkozy, A.论文数: 0 引用数: 0 h-index: 0机构: UCL Great Ormond St Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England Great Ormond St Hosp Sick Children, London, England NINDS, Neuromuscular & Neurogenet Disorders Childhood Se, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USAMuntoni, F.论文数: 0 引用数: 0 h-index: 0机构: UCL Great Ormond St Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England Great Ormond St Hosp Sick Children, London, England NIHR Great Ormond St Hosp Biomed Res Ctr, London, England NINDS, Neuromuscular & Neurogenet Disorders Childhood Se, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USAStraub, V.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Hosp NHS Fdn Trusts, Newcastle Upon Tyne, Tyne & Wear, England NINDS, Neuromuscular & Neurogenet Disorders Childhood Se, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USALaing, N.论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Harry Perkins Inst Med Res, QEII Med Ctr, Ctr Med Res, Nedlands, WA, Australia QEII Med Ctr, PathWest Lab Med, Neurogenet Unit, Dept Diagnost Genom, Nedlands, WA, Australia NINDS, Neuromuscular & Neurogenet Disorders Childhood Se, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USABeggs, A.论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Div Genet & Genom, Manton Ctr Orphan Dis Res, Boston, MA 02115 USA NINDS, Neuromuscular & Neurogenet Disorders Childhood Se, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USABonnemann, C.论文数: 0 引用数: 0 h-index: 0机构: NINDS, Neuromuscular & Neurogenet Disorders Childhood Se, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA NINDS, Neuromuscular & Neurogenet Disorders Childhood Se, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA
- [2] ACTA1-related nemaline myopathy: Reappraisal of the histopathological findingsNEUROMUSCULAR DISORDERS, 2016, 26 : S133 - S133Malfatti, E.论文数: 0 引用数: 0 h-index: 0机构: Myol Inst, Paris, France Myol Inst, Paris, FranceMonges, S.论文数: 0 引用数: 0 h-index: 0机构: Hosp Nacl Pediat JP Garrahan, Buenos Aires, DF, Argentina Myol Inst, Paris, FranceLornage, X.论文数: 0 引用数: 0 h-index: 0机构: IGBMC, Dept Translat Med, Illkirch Graffenstaden, France Myol Inst, Paris, FranceAbath-Neto, O.论文数: 0 引用数: 0 h-index: 0机构: Strasbourg Univ, Dept Translat Med, CNRS, INSERM,IGBMC,U964,UMR7104, Illkirch Graffenstaden, France Myol Inst, Paris, FranceBohm, J.论文数: 0 引用数: 0 h-index: 0机构: Strasbourg Univ, Dept Translat Med, CNRS, INSERM,IGBMC,U964,UMR7104, Illkirch Graffenstaden, France Myol Inst, Paris, FranceJoureau, B.论文数: 0 引用数: 0 h-index: 0机构: Vrije Univ Amsterdam, Med Ctr, Dept Physiol, Amsterdam, Netherlands Myol Inst, Paris, FranceDe Winter, J.论文数: 0 引用数: 0 h-index: 0机构: Vrije Univ Amsterdam, Med Ctr, Dept Physiol, Amsterdam, Netherlands Myol Inst, Paris, FranceRendu, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp, Grenoble, France Myol Inst, Paris, FranceQuijano-Roy, S.论文数: 0 引用数: 0 h-index: 0机构: Hop Univ Paris Ile de France Ouest, Hop Raymond Poincare, AP HP, Serv Pediat,Pole Pediat, Garches, France Myol Inst, Paris, FranceBrochier, G.论文数: 0 引用数: 0 h-index: 0机构: GHU La Pitie Salpetriere, Inst Myol, Ctr Reference Pathol Neuromusculaire Paris Est, Assistance Publ, Paris, France Myol Inst, Paris, FranceLubieniecki, F.论文数: 0 引用数: 0 h-index: 0机构: Hosp Nacl Pediat JP Garrahan, Buenos Aires, DF, Argentina Myol Inst, Paris, FranceMadelaine, A.论文数: 0 引用数: 0 h-index: 0机构: GHU La Pitie Salpetriere, Inst Myol, Ctr Reference Pathol Neuromusculaire Paris Est, Assistance Publ, Paris, France Myol Inst, Paris, FranceChanut, A.论文数: 0 引用数: 0 h-index: 0机构: Myol Inst, Paris, France Myol Inst, Paris, FranceEstournet, B.论文数: 0 引用数: 0 h-index: 0机构: Hop Univ Paris Ile de France Ouest, Hop Raymond Poincare, AP HP, Serv Pediat,Pole Pediat, Garches, France Myol Inst, Paris, FranceEymard, B.论文数: 0 引用数: 0 h-index: 0机构: GHU La Pitie Salpetriere, Inst Myol, Ctr Reference Pathol Neuromusculaire Paris Est, Assistance Publ, Paris, France Myol Inst, Paris, FranceOttenheijm, C.论文数: 0 引用数: 0 h-index: 0机构: Vrije Univ Amsterdam, Med Ctr, Dept Physiol, Amsterdam, Netherlands Myol Inst, Paris, FranceTaratuto, A.论文数: 0 引用数: 0 h-index: 0机构: Hosp Nacl Pediat JP Garrahan, Buenos Aires, DF, Argentina Myol Inst, Paris, FranceLaporte, J.论文数: 0 引用数: 0 h-index: 0机构: Strasbourg Univ, Dept Translat Med, CNRS, INSERM,IGBMC,U964,UMR7104, Illkirch Graffenstaden, France Myol Inst, Paris, FranceFardeau, M.论文数: 0 引用数: 0 h-index: 0机构: Myol Inst, Paris, France Myol Inst, Paris, FranceRomero, N.论文数: 0 引用数: 0 h-index: 0机构: Myol Inst, Paris, France Myol Inst, Paris, France
- [3] Neuromuscular junction defects in ACTA1-related nemaline myopathyNEUROMUSCULAR DISORDERS, 2021, 31 : S61 - S62Bogni, C.论文数: 0 引用数: 0 h-index: 0机构: Genethon, INSERM, Integrare Res Unit, UMR S951, Evry, France Genethon, INSERM, Integrare Res Unit, UMR S951, Evry, FranceGirard, E.论文数: 0 引用数: 0 h-index: 0机构: Inst NeuroMyoGene, CNRS, UMR5310, Lyon, France Genethon, INSERM, Integrare Res Unit, UMR S951, Evry, FrancePoulard, K.论文数: 0 引用数: 0 h-index: 0机构: Genethon, INSERM, Integrare Res Unit, UMR S951, Evry, France Genethon, INSERM, Integrare Res Unit, UMR S951, Evry, FranceBrochier, G.论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, Inst Myol, Paris, France Genethon, INSERM, Integrare Res Unit, UMR S951, Evry, FranceErrazuriz-Cerda, E.论文数: 0 引用数: 0 h-index: 0机构: Lyon 1 Univ, CIQLE Imaging Platform, Lyon, France Genethon, INSERM, Integrare Res Unit, UMR S951, Evry, FranceCosette, J.论文数: 0 引用数: 0 h-index: 0机构: Genethon, Evry, France Genethon, INSERM, Integrare Res Unit, UMR S951, Evry, FranceLabasse, C.论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, Inst Myol, Paris, France Genethon, INSERM, Integrare Res Unit, UMR S951, Evry, FranceMadelaine, A.论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, Inst Myol, Paris, France Genethon, INSERM, Integrare Res Unit, UMR S951, Evry, FranceLia Taratuto, A.论文数: 0 引用数: 0 h-index: 0机构: Neuropathol & Neuromuscular Dis, Buenos Aires, DF, Argentina Genethon, INSERM, Integrare Res Unit, UMR S951, Evry, FranceMessaddeq, N.论文数: 0 引用数: 0 h-index: 0机构: IGBMC, CNRS, INSERM, U1258,UMR7104, Illkirch Graffenstaden, France Genethon, INSERM, Integrare Res Unit, UMR S951, Evry, FranceSchaeffer, L.论文数: 0 引用数: 0 h-index: 0机构: Inst NeuroMyoGene, CNRS, UMR5310, Lyon, France Genethon, INSERM, Integrare Res Unit, UMR S951, Evry, FranceRomero, N.论文数: 0 引用数: 0 h-index: 0机构: Hop La Pitie Salpetriere, Inst Myol, Paris, France Genethon, INSERM, Integrare Res Unit, UMR S951, Evry, FranceBuj-Bello, A.论文数: 0 引用数: 0 h-index: 0机构: Genethon, INSERM, Integrare Res Unit, UMR S951, Evry, France Genethon, INSERM, Integrare Res Unit, UMR S951, Evry, France
- [4] The pathogenesis of ACTA1-related congenital fiber type disproportionANNALS OF NEUROLOGY, 2007, 61 (06) : 552 - 561Clarke, Nigel F.论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Childrens Hosp Westmead, Sch Clin, Inst Neuromuscular Res,Discipline Paediat & Child, Westmead, NSW 2145, AustraliaIlkovski, Biljana论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Childrens Hosp Westmead, Sch Clin, Inst Neuromuscular Res,Discipline Paediat & Child, Westmead, NSW 2145, AustraliaCooper, Sandra论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Childrens Hosp Westmead, Sch Clin, Inst Neuromuscular Res,Discipline Paediat & Child, Westmead, NSW 2145, AustraliaValova, Valentina A.论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Childrens Hosp Westmead, Sch Clin, Inst Neuromuscular Res,Discipline Paediat & Child, Westmead, NSW 2145, AustraliaRobinson, Phillip J.论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Childrens Hosp Westmead, Sch Clin, Inst Neuromuscular Res,Discipline Paediat & Child, Westmead, NSW 2145, AustraliaNonaka, Ikuya论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Childrens Hosp Westmead, Sch Clin, Inst Neuromuscular Res,Discipline Paediat & Child, Westmead, NSW 2145, AustraliaFeng, Juan-Juan论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Childrens Hosp Westmead, Sch Clin, Inst Neuromuscular Res,Discipline Paediat & Child, Westmead, NSW 2145, AustraliaMarston, Steven论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Childrens Hosp Westmead, Sch Clin, Inst Neuromuscular Res,Discipline Paediat & Child, Westmead, NSW 2145, AustraliaNorth, Kathryn论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Childrens Hosp Westmead, Sch Clin, Inst Neuromuscular Res,Discipline Paediat & Child, Westmead, NSW 2145, Australia
- [5] MUSCLE MAGNETIC RESONANCE IMAGING AND HISTOPATHOLOGY IN ACTA1-RELATED CONGENITAL NEMALINE MYOPATHYMUSCLE & NERVE, 2014, 50 (06) : 1011 - 1016Castiglioni, Claudia论文数: 0 引用数: 0 h-index: 0机构: Clin Las Condes, Dept Pediat, Unidad Neurol, Santiago, Chile Clin Las Condes, Dept Pediat, Unidad Neurol, Santiago, ChileCassandrini, Denis论文数: 0 引用数: 0 h-index: 0机构: IRCCS Stella Maris Mol Med Unit, Pisa, Italy Clin Las Condes, Dept Pediat, Unidad Neurol, Santiago, ChileFattori, Fabiana论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Childrens Hosp IRCCS, Mol Med Lab, Rome, Italy Clin Las Condes, Dept Pediat, Unidad Neurol, Santiago, ChileBellacchio, Emanuele论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Childrens Hosp IRCCS, Mol Med Lab, Rome, Italy Clin Las Condes, Dept Pediat, Unidad Neurol, Santiago, ChileD'Amico, Adele论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Childrens Hosp IRCCS, Mol Med Lab, Rome, Italy Clin Las Condes, Dept Pediat, Unidad Neurol, Santiago, ChileAlvarez, Karin论文数: 0 引用数: 0 h-index: 0机构: Clin Las Condes, Lab Genet Mol & Oncol, Santiago, Chile Clin Las Condes, Dept Pediat, Unidad Neurol, Santiago, ChileGejman, Roger论文数: 0 引用数: 0 h-index: 0机构: Pontificia Univ Catolica Chile, Escuela Med, Dept Patol, Santiago, Chile Clin Las Condes, Dept Pediat, Unidad Neurol, Santiago, Chile论文数: 引用数: h-index:机构:Santorelli, Filippo M.论文数: 0 引用数: 0 h-index: 0机构: IRCCS Stella Maris Mol Med Unit, Pisa, Italy Clin Las Condes, Dept Pediat, Unidad Neurol, Santiago, ChileRomero, Norma B.论文数: 0 引用数: 0 h-index: 0机构: GHU La Pitie Salpetriere, Inst Myol, Unite Morphol Neuromusculaire, Paris, France Clin Las Condes, Dept Pediat, Unidad Neurol, Santiago, ChileBertini, Enrico论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Childrens Hosp IRCCS, Mol Med Lab, Rome, Italy Clin Las Condes, Dept Pediat, Unidad Neurol, Santiago, ChileBevilacqua, Jorge A.论文数: 0 引用数: 0 h-index: 0机构: Univ Chile, Hosp Clin, Dept Neurol & Neurocirugia, Santiago, Chile Univ Chile, Fac Med, ICBM, Santiago 7, Chile Clin Las Condes, Dept Pediat, Unidad Neurol, Santiago, Chile
- [6] Severe forms of ACTA1-related nemaline myopathy: Reassessment of the morphological, clinical and molecular aspectsNEUROMUSCULAR DISORDERS, 2021, 31 : S59 - S59Labasse, C.论文数: 0 引用数: 0 h-index: 0机构: GHU Pitie Salpetriere, Myol Inst, F-75651 Paris, France GHU Pitie Salpetriere, Myol Inst, F-75651 Paris, FranceBrochier, G.论文数: 0 引用数: 0 h-index: 0机构: GHU Pitie Salpetriere, Myol Inst, F-75651 Paris, France GHU Pitie Salpetriere, Myol Inst, F-75651 Paris, FranceRendu, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Grenoble Alpes, Grenoble, France GHU Pitie Salpetriere, Myol Inst, F-75651 Paris, FranceBohm, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Strasbourg, Illkirch Graffenstaden, France GHU Pitie Salpetriere, Myol Inst, F-75651 Paris, FranceMonges, S.论文数: 0 引用数: 0 h-index: 0机构: Garrahan Pediat Hosp, Buenos Aires, DF, Argentina GHU Pitie Salpetriere, Myol Inst, F-75651 Paris, FranceQuijano-Roy, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Saclay, APHP, Garches, France GHU Pitie Salpetriere, Myol Inst, F-75651 Paris, FranceAmthor, H.论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Saclay, APHP, Garches, France GHU Pitie Salpetriere, Myol Inst, F-75651 Paris, FranceServais, L.论文数: 0 引用数: 0 h-index: 0机构: CHU Liege, Liege, Belgium GHU Pitie Salpetriere, Myol Inst, F-75651 Paris, FranceMadelaine, A.论文数: 0 引用数: 0 h-index: 0机构: GHU Pitie Salpetriere, Myol Inst, F-75651 Paris, France GHU Pitie Salpetriere, Myol Inst, F-75651 Paris, FranceLacene, E.论文数: 0 引用数: 0 h-index: 0机构: GHU Pitie Salpetriere, Myol Inst, F-75651 Paris, France GHU Pitie Salpetriere, Myol Inst, F-75651 Paris, FranceBui, M.论文数: 0 引用数: 0 h-index: 0机构: GHU Pitie Salpetriere, Myol Inst, F-75651 Paris, France GHU Pitie Salpetriere, Myol Inst, F-75651 Paris, FranceCoppens, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Libre Bruxelles, Brussels, Belgium GHU Pitie Salpetriere, Myol Inst, F-75651 Paris, FranceBiancalana, V.论文数: 0 引用数: 0 h-index: 0机构: Nouvel Hop Civil, Strasbourg, France GHU Pitie Salpetriere, Myol Inst, F-75651 Paris, FranceLubieniecki, F.论文数: 0 引用数: 0 h-index: 0机构: Garrahan Pediat Hosp, Buenos Aires, DF, Argentina GHU Pitie Salpetriere, Myol Inst, F-75651 Paris, FranceLaing, N.论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Perth, WA, Australia GHU Pitie Salpetriere, Myol Inst, F-75651 Paris, FranceTaratuto, A.论文数: 0 引用数: 0 h-index: 0机构: Neuropathol & Neuromuscular Dis Lab, Buenos Aires, DF, Argentina GHU Pitie Salpetriere, Myol Inst, F-75651 Paris, FranceBuj-Bello, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Saclay, GENETHON, Evry, France GHU Pitie Salpetriere, Myol Inst, F-75651 Paris, FranceEvangelista, T.论文数: 0 引用数: 0 h-index: 0机构: GHU Pitie Salpetriere, Myol Inst, INSERM, Paris, France GHU Pitie Salpetriere, Myol Inst, F-75651 Paris, FranceLaporte, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Strasbourg, Illkirch Graffenstaden, France GHU Pitie Salpetriere, Myol Inst, F-75651 Paris, FranceRomero, N.论文数: 0 引用数: 0 h-index: 0机构: GHU Pitie Salpetriere, Myol Inst, INSERM, Paris, France GHU Pitie Salpetriere, Myol Inst, F-75651 Paris, France
- [7] ACTA1-related myopathies: expanding the phenotype to include recognizable asymmetries of muscle involvementNEUROMUSCULAR DISORDERS, 2020, 30 : S53 - S53Foley, A.论文数: 0 引用数: 0 h-index: 0机构: NIH, Bldg 10, Bethesda, MD 20892 USA NIH, Bldg 10, Bethesda, MD 20892 USAFerranti, S.论文数: 0 引用数: 0 h-index: 0机构: NIH, Bldg 10, Bethesda, MD 20892 USA NIH, Bldg 10, Bethesda, MD 20892 USASaade, D.论文数: 0 引用数: 0 h-index: 0机构: NIH, Bldg 10, Bethesda, MD 20892 USA NIH, Bldg 10, Bethesda, MD 20892 USAMohassel, P.论文数: 0 引用数: 0 h-index: 0机构: NIH, Bldg 10, Bethesda, MD 20892 USA NIH, Bldg 10, Bethesda, MD 20892 USADonkervoort, S.论文数: 0 引用数: 0 h-index: 0机构: NIH, Bldg 10, Bethesda, MD 20892 USA NIH, Bldg 10, Bethesda, MD 20892 USAMedne, L.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Phila, Philadelphia, PA USA NIH, Bldg 10, Bethesda, MD 20892 USADastgir, J.论文数: 0 引用数: 0 h-index: 0机构: NIH, Bldg 10, Bethesda, MD 20892 USA NIH, Bldg 10, Bethesda, MD 20892 USABharucha-Goebel, D.论文数: 0 引用数: 0 h-index: 0机构: NIH, Bldg 10, Bethesda, MD 20892 USA NIH, Bldg 10, Bethesda, MD 20892 USAMeilleur, K.论文数: 0 引用数: 0 h-index: 0机构: NIH, Bldg 10, Bethesda, MD 20892 USA NIH, Bldg 10, Bethesda, MD 20892 USALeach, M.论文数: 0 引用数: 0 h-index: 0机构: NIH, Bldg 10, Bethesda, MD 20892 USA NIH, Bldg 10, Bethesda, MD 20892 USAScavina, M.论文数: 0 引用数: 0 h-index: 0机构: Nemours Alfred I duPont Hosp, Wilmington, DE USA NIH, Bldg 10, Bethesda, MD 20892 USAYum, S.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Phila, Philadelphia, PA USA NIH, Bldg 10, Bethesda, MD 20892 USATennekoon, G.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Phila, Philadelphia, PA USA NIH, Bldg 10, Bethesda, MD 20892 USABonnemann, C.论文数: 0 引用数: 0 h-index: 0机构: NIH, Bldg 10, Bethesda, MD 20892 USA NIH, Bldg 10, Bethesda, MD 20892 USA
- [8] Clinical and Histologic Findings in ACTA1-Related Nemaline Myopathy: Case Series and Review of the LiteraturePEDIATRIC NEUROLOGY, 2017, 75 : 11 - 16Martins Moreno, Cristiane de Araujo论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo FMUSP, Med Sch, Dept Neurol, Sao Paulo, Brazil Univ Sao Paulo FMUSP, Med Sch, Dept Neurol, Sao Paulo, BrazilNeto, Osorio Abath论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo FMUSP, Med Sch, Dept Neurol, Sao Paulo, Brazil NINDS, Neuromuscular & Neurogenet Disorders Childhood Se, Neurogenet Branch, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA Univ Sao Paulo FMUSP, Med Sch, Dept Neurol, Sao Paulo, BrazilDonkervoort, Sandra论文数: 0 引用数: 0 h-index: 0机构: NINDS, Neuromuscular & Neurogenet Disorders Childhood Se, Neurogenet Branch, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA Univ Sao Paulo FMUSP, Med Sch, Dept Neurol, Sao Paulo, BrazilHu, Ying论文数: 0 引用数: 0 h-index: 0机构: NINDS, Neuromuscular & Neurogenet Disorders Childhood Se, Neurogenet Branch, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA Univ Sao Paulo FMUSP, Med Sch, Dept Neurol, Sao Paulo, BrazilReed, Umbertina Conti论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo FMUSP, Med Sch, Dept Neurol, Sao Paulo, Brazil Univ Sao Paulo FMUSP, Med Sch, Dept Neurol, Sao Paulo, BrazilBulle Oliveira, Acary Sousa论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Sao Paulo, Dept Neurol, Sao Paulo, Brazil Univ Sao Paulo FMUSP, Med Sch, Dept Neurol, Sao Paulo, BrazilBonnemann, Carsten论文数: 0 引用数: 0 h-index: 0机构: NINDS, Neuromuscular & Neurogenet Disorders Childhood Se, Neurogenet Branch, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA Univ Sao Paulo FMUSP, Med Sch, Dept Neurol, Sao Paulo, BrazilZanoteli, Edmar论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo FMUSP, Med Sch, Dept Neurol, Sao Paulo, Brazil Univ Sao Paulo FMUSP, Med Sch, Dept Neurol, Sao Paulo, Brazil
- [9] Investigating the pathogenesis of ACTA1-related congenital fibre type disproportionNEUROMUSCULAR DISORDERS, 2006, 16 : S61 - S61Clarke, Nigel论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Discipline Paediat & Child Hlth, Childrens Hosp Westmead, Inst Neuromuscular Res, Sydney, NSW 2006, AustraliaIlkovski, Biljana论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Discipline Paediat & Child Hlth, Childrens Hosp Westmead, Inst Neuromuscular Res, Sydney, NSW 2006, AustraliaNonaka, Ikuya论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Discipline Paediat & Child Hlth, Childrens Hosp Westmead, Inst Neuromuscular Res, Sydney, NSW 2006, AustraliaFeng, Juan-Juan论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Discipline Paediat & Child Hlth, Childrens Hosp Westmead, Inst Neuromuscular Res, Sydney, NSW 2006, AustraliaMarston, Steven论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Discipline Paediat & Child Hlth, Childrens Hosp Westmead, Inst Neuromuscular Res, Sydney, NSW 2006, AustraliaNorth, Kathryn论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Discipline Paediat & Child Hlth, Childrens Hosp Westmead, Inst Neuromuscular Res, Sydney, NSW 2006, Australia
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