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- [42] The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutationsJOURNAL OF NEUROLOGY, 2019, 266 (04) : 876 - 887Knuiman, G. J.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Pathol, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Pathol, Nijmegen, NetherlandsKusters, B.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Pathol, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Pathol, Nijmegen, NetherlandsEshuis, L.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Pathol, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Pathol, Nijmegen, NetherlandsSnoeck, M.论文数: 0 引用数: 0 h-index: 0机构: Canisius Wilhelmina Hosp, Dept Anaesthesiol, Natl MH Invest Unit, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Pathol, Nijmegen, NetherlandsLammens, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Univ Antwerp Hosp, Dept Pathol, Edegem, Belgium Radboud Univ Nijmegen, Med Ctr, Dept Pathol, Nijmegen, NetherlandsHeytens, L.论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Malignant Hyperthermia Res Unit, Antwerp, Belgium Radboud Univ Nijmegen, Med Ctr, Dept Pathol, Nijmegen, NetherlandsDe Ridder, W.论文数: 0 引用数: 0 h-index: 0机构: VIB, Ctr Mol Neurol, Neurogenet Grp, Antwerp, Belgium Univ Antwerp, Inst Born Bunge, Lab Neuromuscular Pathol, Antwerp, Belgium Antwerp Univ Hosp, Dept Neurol, Neuromuscular Reference Ctr, Dept Neurol, Antwerp, Belgium Radboud Univ Nijmegen, Med Ctr, Dept Pathol, Nijmegen, NetherlandsBaets, J.论文数: 0 引用数: 0 h-index: 0机构: VIB, Ctr Mol Neurol, Neurogenet Grp, Antwerp, Belgium Univ Antwerp, Inst Born Bunge, Lab Neuromuscular Pathol, Antwerp, Belgium Antwerp Univ Hosp, Dept Neurol, Neuromuscular Reference Ctr, Dept Neurol, Antwerp, Belgium Radboud Univ Nijmegen, Med Ctr, Dept Pathol, Nijmegen, NetherlandsScalco, R. S.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, MRC Ctr Neuromuscular Dis, London, England Radboud Univ Nijmegen, Med Ctr, Dept Pathol, Nijmegen, NetherlandsQuinlivan, R.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, MRC Ctr Neuromuscular Dis, London, England Radboud Univ Nijmegen, Med Ctr, Dept Pathol, Nijmegen, NetherlandsHolton, J.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, MRC Ctr Neuromuscular Dis, London, England Radboud Univ Nijmegen, Med Ctr, Dept Pathol, Nijmegen, NetherlandsBodi, I.论文数: 0 引用数: 0 h-index: 0机构: Guys & St Thomas Hosp NHS Fdn Trust, Evelina Childrens Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England Radboud Univ Nijmegen, Med Ctr, Dept Pathol, Nijmegen, NetherlandsWraige, E.论文数: 0 引用数: 0 h-index: 0机构: Guys & St Thomas Hosp NHS Fdn Trust, Evelina Childrens Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England Radboud Univ Nijmegen, Med Ctr, Dept Pathol, Nijmegen, NetherlandsRadunovic, A.论文数: 0 引用数: 0 h-index: 0机构: Royal London Hosp, Barts Neuromuscular Dis Ctr, London, England Radboud Univ Nijmegen, Med Ctr, Dept Pathol, Nijmegen, Netherlandsvon Landenberg, C.论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Med Ctr, Dept Neurol, Muscle Lab, Bonn, Germany Radboud Univ Nijmegen, Med Ctr, Dept Pathol, Nijmegen, NetherlandsReimann, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Med Ctr, Dept Neurol, Muscle Lab, Bonn, Germany Radboud Univ Nijmegen, Med Ctr, Dept Pathol, Nijmegen, NetherlandsKamsteeg, E. -J.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Pathol, Nijmegen, NetherlandsSewry, C.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England Great Ormond St Hosp Sick Children, London, England Radboud Univ Nijmegen, Med Ctr, Dept Pathol, Nijmegen, NetherlandsJungbluth, H.论文数: 0 引用数: 0 h-index: 0机构: Guys & St Thomas Hosp NHS Fdn Trust, Evelina Childrens Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England Kings Coll London, Randall Div Cell & Mol Biophys, Muscle Signalling Sect, London, England Kings Coll London, IoPPN, Dept Basic & Clin Neurosci, London, England Radboud Univ Nijmegen, Med Ctr, Dept Pathol, Nijmegen, NetherlandsVoermans, N. C.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Neurol, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Pathol, Nijmegen, Netherlands
- [43] The RYR1 genotype of two inbred pigsXENOTRANSPLANTATION, 2001, 8 : 129 - 130Liu, J论文数: 0 引用数: 0 h-index: 0机构: W China Univ Med Sci, Univ Hosp 1, Lab Transplant Engn & Immunol, Chengdu, Peoples R ChinaLi, Y论文数: 0 引用数: 0 h-index: 0机构: W China Univ Med Sci, Univ Hosp 1, Lab Transplant Engn & Immunol, Chengdu, Peoples R ChinaCheng, J论文数: 0 引用数: 0 h-index: 0机构: W China Univ Med Sci, Univ Hosp 1, Lab Transplant Engn & Immunol, Chengdu, Peoples R ChinaBu, H论文数: 0 引用数: 0 h-index: 0机构: W China Univ Med Sci, Univ Hosp 1, Lab Transplant Engn & Immunol, Chengdu, Peoples R ChinaLu, X论文数: 0 引用数: 0 h-index: 0机构: W China Univ Med Sci, Univ Hosp 1, Lab Transplant Engn & Immunol, Chengdu, Peoples R ChinaZeng, Y论文数: 0 引用数: 0 h-index: 0机构: W China Univ Med Sci, Univ Hosp 1, Lab Transplant Engn & Immunol, Chengdu, Peoples R ChinaFeng, S论文数: 0 引用数: 0 h-index: 0机构: W China Univ Med Sci, Univ Hosp 1, Lab Transplant Engn & Immunol, Chengdu, Peoples R China
- [44] Structure of RYR1 at 14 angstrom resolutionBIOPHYSICAL JOURNAL, 2004, 86 (01) : 242A - 242ASerysheva, II论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Houston, TX 77030 USA Baylor Coll Med, Houston, TX 77030 USALudtke, SJ论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Houston, TX 77030 USA Baylor Coll Med, Houston, TX 77030 USAHamilton, SL论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Houston, TX 77030 USA Baylor Coll Med, Houston, TX 77030 USAChiu, W论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Houston, TX 77030 USA Baylor Coll Med, Houston, TX 77030 USA
- [45] Therapy development for RYR1 related myopathiesNEUROMUSCULAR DISORDERS, 2019, 29 : S136 - S136Onofre-Oliveira, P.论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Toronto, ON, Canada Hosp Sick Children, Toronto, ON, CanadaBrennan, S.论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Toronto, ON, Canada Hosp Sick Children, Toronto, ON, CanadaVolpatti, J.论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Toronto, ON, Canada Hosp Sick Children, Toronto, ON, CanadaGarcia-Castaneda, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Rochester, Rochester, NY 14627 USA Hosp Sick Children, Toronto, ON, CanadaMichelucci, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Rochester, Rochester, NY 14627 USA Hosp Sick Children, Toronto, ON, CanadaGroom, L.论文数: 0 引用数: 0 h-index: 0机构: Univ Rochester, Rochester, NY 14627 USA Hosp Sick Children, Toronto, ON, CanadaSabha, N.论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Toronto, ON, Canada Hosp Sick Children, Toronto, ON, CanadaDirksen, R.论文数: 0 引用数: 0 h-index: 0机构: Univ Rochester, Rochester, NY 14627 USA Hosp Sick Children, Toronto, ON, CanadaDowling, J.论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Toronto, ON, Canada Hosp Sick Children, Toronto, ON, Canada
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- [47] Allosteric Modulation of RyR1 with Nucleotide AnalogsPROTEIN SCIENCE, 2023, 32Cholak, Spencer论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Vancouver, BC, Canada Univ British Columbia, Vancouver, BC, CanadaSaville, James论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Vancouver, BC, Canada Univ British Columbia, Vancouver, BC, CanadaZhu, Xing论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Vancouver, BC, Canada Univ British Columbia, Vancouver, BC, CanadaBerezuk, Alison论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Vancouver, BC, Canada Univ British Columbia, Vancouver, BC, CanadaHaji-Ghassemi, Omid论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Vancouver, BC, Canada Univ British Columbia, Vancouver, BC, CanadaTuttle, Katharine论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Vancouver, BC, Canada Univ British Columbia, Vancouver, BC, CanadaVan Petegem, Filip论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Vancouver, BC, Canada Univ British Columbia, Vancouver, BC, CanadaSubramaniam, Sriram论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Vancouver, BC, Canada Univ British Columbia, Vancouver, BC, Canada
- [48] RYR1 Mutations Are a Common Cause of Congenital Myopathies with Central NucleiANNALS OF NEUROLOGY, 2010, 68 (05) : 717 - 726Wilmshurst, J. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Cape Town, Red Cross Childrens Hosp, Sch Child & Adolescent Hlth, Dept Paediat Neurol, ZA-7925 Cape Town, South Africa Kings Coll London, IOP, Dept Clin Neurosci, Clin Neurosci Div, London SE1 7EH, EnglandLillis, S.论文数: 0 引用数: 0 h-index: 0机构: Guys Hosp, GSTS Pathol, Diagnost Genet Lab, London SE1 9RT, England Kings Coll London, IOP, Dept Clin Neurosci, Clin Neurosci Div, London SE1 7EH, EnglandZhou, H.论文数: 0 引用数: 0 h-index: 0机构: Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England Kings Coll London, IOP, Dept Clin Neurosci, Clin Neurosci Div, London SE1 7EH, England论文数: 引用数: h-index:机构:Henderson, H.论文数: 0 引用数: 0 h-index: 0机构: Univ Cape Town, Dept Mol Genet, ZA-7925 Cape Town, South Africa Kings Coll London, IOP, Dept Clin Neurosci, Clin Neurosci Div, London SE1 7EH, EnglandKress, W.论文数: 0 引用数: 0 h-index: 0机构: Univ Wurzburg, Inst Human Genet, Biozentrum, Wurzburg, Germany Kings Coll London, IOP, Dept Clin Neurosci, Clin Neurosci Div, London SE1 7EH, EnglandMueller, C. R.论文数: 0 引用数: 0 h-index: 0机构: Univ Wurzburg, Inst Human Genet, Biozentrum, Wurzburg, Germany Kings Coll London, IOP, Dept Clin Neurosci, Clin Neurosci Div, London SE1 7EH, EnglandNdondo, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Cape Town, Red Cross Childrens Hosp, Sch Child & Adolescent Hlth, Dept Paediat Neurol, ZA-7925 Cape Town, South Africa Kings Coll London, IOP, Dept Clin Neurosci, Clin Neurosci Div, London SE1 7EH, EnglandCloke, V.论文数: 0 引用数: 0 h-index: 0机构: Guys Hosp, GSTS Pathol, Diagnost Genet Lab, London SE1 9RT, England Kings Coll London, IOP, Dept Clin Neurosci, Clin Neurosci Div, London SE1 7EH, EnglandCullup, T.论文数: 0 引用数: 0 h-index: 0机构: Guys Hosp, GSTS Pathol, Diagnost Genet Lab, London SE1 9RT, England Kings Coll London, IOP, Dept Clin Neurosci, Clin Neurosci Div, London SE1 7EH, EnglandBertini, E.论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Pediat Hosp, Mol Med Unit, Rome, Italy Kings Coll London, IOP, Dept Clin Neurosci, Clin Neurosci Div, London SE1 7EH, EnglandBoennemann, C.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Paediat Neurol, Philadelphia, PA 19104 USA Kings Coll London, IOP, Dept Clin Neurosci, Clin Neurosci Div, London SE1 7EH, EnglandStraub, V.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Human Genet, Int Ctr Life, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England Kings Coll London, IOP, Dept Clin Neurosci, Clin Neurosci Div, London SE1 7EH, EnglandQuinlivan, R.论文数: 0 引用数: 0 h-index: 0机构: Robert Jones & Agnes Hunt Orthopaed Hosp, Ctr Inherited Neuromuscular Disorders, Oswestry SY10 7AG, Shrops, England Kings Coll London, IOP, Dept Clin Neurosci, Clin Neurosci Div, London SE1 7EH, EnglandDowling, 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 Kings Coll London, IOP, Dept Clin Neurosci, Clin Neurosci Div, London SE1 7EH, EnglandAl-Sarraj, S.论文数: 0 引用数: 0 h-index: 0机构: Kings Coll Hosp London, Dept Clin Neuropathol, London, England Kings Coll London, IOP, Dept Clin Neurosci, Clin Neurosci Div, London SE1 7EH, England论文数: 引用数: h-index:机构:Abbs, S.论文数: 0 引用数: 0 h-index: 0机构: Guys Hosp, GSTS Pathol, Diagnost Genet Lab, London SE1 9RT, England Kings Coll London, IOP, Dept Clin Neurosci, Clin Neurosci Div, London SE1 7EH, EnglandManzur, A. Y.论文数: 0 引用数: 0 h-index: 0机构: Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England Kings Coll London, IOP, Dept Clin Neurosci, Clin Neurosci Div, London SE1 7EH, EnglandSewry, C. A.论文数: 0 引用数: 0 h-index: 0机构: Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England Robert Jones & Agnes Hunt Orthopaed Hosp, Ctr Inherited Neuromuscular Disorders, Oswestry SY10 7AG, Shrops, England Kings Coll London, IOP, Dept Clin Neurosci, Clin Neurosci Div, London SE1 7EH, EnglandMuntoni, F.论文数: 0 引用数: 0 h-index: 0机构: Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England Kings Coll London, IOP, Dept Clin Neurosci, Clin Neurosci Div, London SE1 7EH, EnglandJungbluth, H.论文数: 0 引用数: 0 h-index: 0机构: Kings Coll London, IOP, Dept Clin Neurosci, Clin Neurosci Div, London SE1 7EH, England St Thomas Hosp, Evelina Childrens Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England Kings Coll London, IOP, Dept Clin Neurosci, Clin Neurosci Div, London SE1 7EH, England
- [49] DETECTION OF MUTATIONS IN THE RYR1 GENE IN MALIGNANT HYPERTHERMIA SUSCEPTIBLE PERSONSJOURNAL OF MEDICAL GENETICS, 1995, 32 (02) : 155 - 155ADEOKUN, AM论文数: 0 引用数: 0 h-index: 0机构: UNIV NEWCASTLE UPON TYNE,DEPT HUMAN GENET,NEWCASTLE TYNE NE1 7RU,TYNE & WEAR,ENGLANDELLIS, FR论文数: 0 引用数: 0 h-index: 0机构: UNIV NEWCASTLE UPON TYNE,DEPT HUMAN GENET,NEWCASTLE TYNE NE1 7RU,TYNE & WEAR,ENGLANDHOPKINS, PM论文数: 0 引用数: 0 h-index: 0机构: UNIV NEWCASTLE UPON TYNE,DEPT HUMAN GENET,NEWCASTLE TYNE NE1 7RU,TYNE & WEAR,ENGLANDHALSALL, PJ论文数: 0 引用数: 0 h-index: 0机构: UNIV NEWCASTLE UPON TYNE,DEPT HUMAN GENET,NEWCASTLE TYNE NE1 7RU,TYNE & WEAR,ENGLANDCURRAN, J论文数: 0 引用数: 0 h-index: 0机构: UNIV NEWCASTLE UPON TYNE,DEPT HUMAN GENET,NEWCASTLE TYNE NE1 7RU,TYNE & WEAR,ENGLANDSTEWART, AD论文数: 0 引用数: 0 h-index: 0机构: UNIV NEWCASTLE UPON TYNE,DEPT HUMAN GENET,NEWCASTLE TYNE NE1 7RU,TYNE & WEAR,ENGLANDWEST, SP论文数: 0 引用数: 0 h-index: 0机构: UNIV NEWCASTLE UPON TYNE,DEPT HUMAN GENET,NEWCASTLE TYNE NE1 7RU,TYNE & WEAR,ENGLAND
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