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- [1] Severe Neonatal RYR1 Myopathy With Pathological Features of Congenital Muscular DystrophyJOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 2019, 78 (03): : 283 - 287Helbling, Daniel C.论文数: 0 引用数: 0 h-index: 0机构: Med Coll Wisconsin, Human Mol Genet Ctr, Milwaukee, WI 53226 USA Med Coll Wisconsin, Human Mol Genet Ctr, Milwaukee, WI 53226 USAMendoza, David论文数: 0 引用数: 0 h-index: 0机构: Med Coll Wisconsin, Dept Pathol & Lab Med, Milwaukee, WI 53226 USA Med Coll Wisconsin, Human Mol Genet Ctr, Milwaukee, WI 53226 USAMcCarrier, Julie论文数: 0 引用数: 0 h-index: 0机构: Med Coll Wisconsin, Dept Pediat, Div Genet, 8701 Watertown Plank Rd, Milwaukee, WI 53226 USA Med Coll Wisconsin, Human Mol Genet Ctr, Milwaukee, WI 53226 USAVanden Avond, Mark A.论文数: 0 引用数: 0 h-index: 0机构: Med Coll Wisconsin, Dept Pathol & Lab Med, Milwaukee, WI 53226 USA Med Coll Wisconsin, Human Mol Genet Ctr, Milwaukee, WI 53226 USAHarmelink, Matthew M.论文数: 0 引用数: 0 h-index: 0机构: Med Coll Wisconsin, Dept Neurol, Milwaukee, WI 53226 USA Med Coll Wisconsin, Human Mol Genet Ctr, Milwaukee, WI 53226 USABarkhaus, Paul E.论文数: 0 引用数: 0 h-index: 0机构: Med Coll Wisconsin, Dept Neurol, Milwaukee, WI 53226 USA Med Coll Wisconsin, Human Mol Genet Ctr, Milwaukee, WI 53226 USABasel, Donald论文数: 0 引用数: 0 h-index: 0机构: Med Coll Wisconsin, Dept Pediat, Div Genet, 8701 Watertown Plank Rd, Milwaukee, WI 53226 USA Med Coll Wisconsin, Human Mol Genet Ctr, Milwaukee, WI 53226 USALawlor, Michael W.论文数: 0 引用数: 0 h-index: 0机构: Med Coll Wisconsin, Dept Pathol & Lab Med, Milwaukee, WI 53226 USA Med Coll Wisconsin, Human Mol Genet Ctr, Milwaukee, WI 53226 USA
- [2] Novel RYR1 Mutation in Congenital Muscular DystrophyJOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 2018, 77 (06): : 504 - 504Di Loreto, Christina论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Diego, Dept Pathol, San Diego, CA 92103 USA Univ Calif San Diego, Dept Pathol, San Diego, CA 92103 USAPowers, Martin论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Diego, Dept Pathol, San Diego, CA 92103 USA Univ Calif San Diego, Dept Pathol, San Diego, CA 92103 USAHansen, Lawrence论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Diego, Dept Pathol, San Diego, CA 92103 USA Univ Calif San Diego, Dept Pathol, San Diego, CA 92103 USAMalicki, Denise论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Diego, Dept Pathol, San Diego, CA 92103 USA Univ Calif San Diego, Dept Pathol, San Diego, CA 92103 USA
- [3] Variable clinical and histological features in severe congenital RYR1 associated myopathyNEUROMUSCULAR DISORDERS, 2013, 23 (9-10) : 762 - 762Santi, M.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Philadelphia, PA 19104 USAMedne, L.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Philadelphia, PA 19104 USABharucha-Goebel, D.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Philadelphia, PA 19104 USABonnemann, C.论文数: 0 引用数: 0 h-index: 0机构: NINDS Neurosci, NIH, Bethesda, MD USA Childrens Hosp Philadelphia, Philadelphia, PA 19104 USADastgir, J.论文数: 0 引用数: 0 h-index: 0机构: NINDS Neurosci, NIH, Bethesda, MD USA Childrens Hosp Philadelphia, Philadelphia, PA 19104 USAZukosky, K.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Philadelphia, PA 19104 USAShieh, P.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Philadelphia, PA 19104 USAWinder, T.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Philadelphia, PA 19104 USATennekoon, G.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Philadelphia, PA 19104 USAFinkel, R.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Philadelphia, PA 19104 USADowling, J.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Philadelphia, PA 19104 USAMonnier, N.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Philadelphia, PA 19104 USA
- [4] Severe congenital myopathy with central nuclei and novel RYR1 gene mutationsNEUROMUSCULAR DISORDERS, 2014, 24 (9-10) : 808 - 809Chrestian, N.论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Toronto, ON M5G 1X8, Canada Hosp Sick Children, Toronto, ON M5G 1X8, CanadaDowling, J.论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Toronto, ON M5G 1X8, Canada Hosp Sick Children, Toronto, ON M5G 1X8, CanadaAmburgey, K.论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Toronto, ON M5G 1X8, Canada Hosp Sick Children, Toronto, ON M5G 1X8, CanadaMoraes, T.论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Toronto, ON M5G 1X8, Canada Hosp Sick Children, Toronto, ON M5G 1X8, CanadaCohn, R.论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Toronto, ON M5G 1X8, Canada Hosp Sick Children, Toronto, ON M5G 1X8, CanadaHawkins, C.论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Toronto, ON M5G 1X8, Canada Hosp Sick Children, Toronto, ON M5G 1X8, CanadaHalliday, W.论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Toronto, ON M5G 1X8, Canada Hosp Sick Children, Toronto, ON M5G 1X8, CanadaMcAdam, L.论文数: 0 引用数: 0 h-index: 0机构: Holland Bloorview Kids Rehabil Hosp, Toronto, ON, Canada Hosp Sick Children, Toronto, ON M5G 1X8, CanadaBiggar, D.论文数: 0 引用数: 0 h-index: 0机构: Holland Bloorview Kids Rehabil Hosp, Toronto, ON, Canada Hosp Sick Children, Toronto, ON M5G 1X8, CanadaVajsar, J.论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Toronto, ON M5G 1X8, Canada Hosp Sick Children, Toronto, ON M5G 1X8, Canada
- [5] Compound Heterozygous RYR1 Variants in a Patient with Severe Congenital Myopathy: Case Report and Comparison with Additional Cases of Recessive RYR1-Related MyopathyINTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2024, 25 (19)Janssen, Soeren论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp, Ruhr Univ Bochum, Dept Neuropediat, D-44791 Bochum, Germany Univ Childrens Hosp, Ruhr Univ Bochum, Dept Neuropediat, D-44791 Bochum, GermanyErbe, Leoni S.论文数: 0 引用数: 0 h-index: 0机构: Ruhr Univ Bochum, Dept Human Genet, D-44801 Bochum, Germany Univ Childrens Hosp, Ruhr Univ Bochum, Dept Neuropediat, D-44791 Bochum, GermanyKneifel, Moritz论文数: 0 引用数: 0 h-index: 0机构: Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Heimer Inst Muscle Res, Dept Neurol, D-44789 Bochum, Germany Univ Childrens Hosp, Ruhr Univ Bochum, Dept Neuropediat, D-44791 Bochum, GermanyVorgerd, Matthias论文数: 0 引用数: 0 h-index: 0机构: Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Heimer Inst Muscle Res, Dept Neurol, D-44789 Bochum, Germany Univ Childrens Hosp, Ruhr Univ Bochum, Dept Neuropediat, D-44791 Bochum, GermanyDoering, Kristina论文数: 0 引用数: 0 h-index: 0机构: Ruhr Univ Bochum, Dept Human Genet, D-44801 Bochum, Germany Univ Childrens Hosp, Ruhr Univ Bochum, Dept Neuropediat, D-44791 Bochum, GermanyLubieniecki, Krzysztof P.论文数: 0 引用数: 0 h-index: 0机构: Ruhr Univ Bochum, Dept Human Genet, D-44801 Bochum, Germany Univ Childrens Hosp, Ruhr Univ Bochum, Dept Neuropediat, D-44791 Bochum, GermanyLubieniecka, Joanna M.论文数: 0 引用数: 0 h-index: 0机构: Ruhr Univ Bochum, Dept Human Genet, D-44801 Bochum, Germany Univ Childrens Hosp, Ruhr Univ Bochum, Dept Neuropediat, D-44791 Bochum, GermanyGerding, Wanda M.论文数: 0 引用数: 0 h-index: 0机构: Ruhr Univ Bochum, Dept Human Genet, D-44801 Bochum, Germany Univ Childrens Hosp, Ruhr Univ Bochum, Dept Neuropediat, D-44791 Bochum, GermanyCasadei, Nicolas论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Med Genet & Appl Genom, D-72074 Tubingen, Germany NGS Competence Ctr Tubingen, D-72076 Tubingen, Germany Univ Childrens Hosp, Ruhr Univ Bochum, Dept Neuropediat, D-44791 Bochum, GermanyGuettsches, Anne-Katrin论文数: 0 引用数: 0 h-index: 0机构: Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Heimer Inst Muscle Res, Dept Neurol, D-44789 Bochum, Germany Univ Childrens Hosp, Ruhr Univ Bochum, Dept Neuropediat, D-44791 Bochum, GermanyHeyer, Christoph论文数: 0 引用数: 0 h-index: 0机构: Ruhr Univ Bochum, Inst Pediat Radiol, Kathol Klinikum Bochum, D-44791 Bochum, Germany Univ Childrens Hosp, Ruhr Univ Bochum, Dept Neuropediat, D-44791 Bochum, GermanyLuecke, Thomas论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp, Ruhr Univ Bochum, Dept Neuropediat, D-44791 Bochum, Germany Ctr Rare Dis Ruhr CeSER, D-44791 Bochum, Germany Univ Childrens Hosp, Ruhr Univ Bochum, Dept Neuropediat, D-44791 Bochum, GermanyNguyen, Hoa Huu Phuc论文数: 0 引用数: 0 h-index: 0机构: Ruhr Univ Bochum, Dept Human Genet, D-44801 Bochum, Germany Ctr Rare Dis Ruhr CeSER, D-44791 Bochum, Germany Univ Childrens Hosp, Ruhr Univ Bochum, Dept Neuropediat, D-44791 Bochum, GermanyKoehler, Cornelia论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp, Ruhr Univ Bochum, Dept Neuropediat, D-44791 Bochum, Germany Ctr Rare Dis Ruhr CeSER, D-44791 Bochum, Germany Univ Childrens Hosp, Ruhr Univ Bochum, Dept Neuropediat, D-44791 Bochum, GermanyHoffjan, Sabine论文数: 0 引用数: 0 h-index: 0机构: Ruhr Univ Bochum, Dept Human Genet, D-44801 Bochum, Germany Ctr Rare Dis Ruhr CeSER, D-44791 Bochum, Germany Univ Childrens Hosp, Ruhr Univ Bochum, Dept Neuropediat, D-44791 Bochum, Germany
- [6] Neonatal cases of congenital myopathy due to RYR1 mutations: early findings at muscle biopsy and muscle MRIEUROPEAN JOURNAL OF NEUROLOGY, 2018, 25 : 338 - 338Brusa, R.论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, IRCCS Fdn Ca Granda Osped Maggiore Policlin, Dino Ferrari Ctr, Neurosci Sect,Dept Pathophysiol & Transplantat, Milan, Italy Univ Milan, IRCCS Fdn Ca Granda Osped Maggiore Policlin, Dino Ferrari Ctr, Neurosci Sect,Dept Pathophysiol & Transplantat, Milan, ItalyMagri, F.论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, IRCCS Fdn Ca Granda Osped Maggiore Policlin, Dino Ferrari Ctr, Neurosci Sect,Dept Pathophysiol & Transplantat, Milan, Italy Univ Milan, IRCCS Fdn Ca Granda Osped Maggiore Policlin, Dino Ferrari Ctr, Neurosci Sect,Dept Pathophysiol & Transplantat, Milan, ItalySciacco, M.论文数: 0 引用数: 0 h-index: 0机构: IRCCS Fdn Ca Granda Osped Maggiore Policlin, Dept Neurosci, Neuromuscular & Rare Dis Unit, Milan, Italy Univ Milan, IRCCS Fdn Ca Granda Osped Maggiore Policlin, Dino Ferrari Ctr, Neurosci Sect,Dept Pathophysiol & Transplantat, Milan, Italy论文数: 引用数: h-index:机构:Peverelli, L.论文数: 0 引用数: 0 h-index: 0机构: IRCCS Fdn Ca Granda Osped Maggiore Policlin, Dept Neurosci, Neuromuscular & Rare Dis Unit, Milan, Italy Univ Milan, IRCCS Fdn Ca Granda Osped Maggiore Policlin, Dino Ferrari Ctr, Neurosci Sect,Dept Pathophysiol & Transplantat, Milan, ItalyFagiolari, G.论文数: 0 引用数: 0 h-index: 0机构: IRCCS Fdn Ca Granda Osped Maggiore Policlin, Dept Neurosci, Neuromuscular & Rare Dis Unit, Milan, Italy Univ Milan, IRCCS Fdn Ca Granda Osped Maggiore Policlin, Dino Ferrari Ctr, Neurosci Sect,Dept Pathophysiol & Transplantat, Milan, ItalyCinnante, C.论文数: 0 引用数: 0 h-index: 0机构: IRCCS Fdn Ca Granda Osped Maggiore Policlin, Neuroradiol Unit, Milan, Italy Univ Milan, IRCCS Fdn Ca Granda Osped Maggiore Policlin, Dino Ferrari Ctr, Neurosci Sect,Dept Pathophysiol & Transplantat, Milan, ItalyPiga, D.论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, IRCCS Fdn Ca Granda Osped Maggiore Policlin, Dino Ferrari Ctr, Neurosci Sect,Dept Pathophysiol & Transplantat, Milan, Italy Univ Milan, IRCCS Fdn Ca Granda Osped Maggiore Policlin, Dino Ferrari Ctr, Neurosci Sect,Dept Pathophysiol & Transplantat, Milan, ItalyDilena, R.论文数: 0 引用数: 0 h-index: 0机构: IRCCS Fdn Ca Granda, Osped Maggiore Policlin, UOC Neurofisiopatol, Milan, Italy Univ Milan, IRCCS Fdn Ca Granda Osped Maggiore Policlin, Dino Ferrari Ctr, Neurosci Sect,Dept Pathophysiol & Transplantat, Milan, ItalyCassandrini, D.论文数: 0 引用数: 0 h-index: 0机构: IRCCS Fdn Stella Maris, Pisa, Italy Univ Milan, IRCCS Fdn Ca Granda Osped Maggiore Policlin, Dino Ferrari Ctr, Neurosci Sect,Dept Pathophysiol & Transplantat, Milan, Italy论文数: 引用数: h-index:机构:Gagliardi, D.论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, IRCCS Fdn Ca Granda Osped Maggiore Policlin, Dino Ferrari Ctr, Neurosci Sect,Dept Pathophysiol & Transplantat, Milan, Italy Univ Milan, IRCCS Fdn Ca Granda Osped Maggiore Policlin, Dino Ferrari Ctr, Neurosci Sect,Dept Pathophysiol & Transplantat, Milan, ItalyFaravelli, I.论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, IRCCS Fdn Ca Granda Osped Maggiore Policlin, Dino Ferrari Ctr, Neurosci Sect,Dept Pathophysiol & Transplantat, Milan, Italy Univ Milan, IRCCS Fdn Ca Granda Osped Maggiore Policlin, Dino Ferrari Ctr, Neurosci Sect,Dept Pathophysiol & Transplantat, Milan, ItalyCorti, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, IRCCS Fdn Ca Granda Osped Maggiore Policlin, Dino Ferrari Ctr, Neurosci Sect,Dept Pathophysiol & Transplantat, Milan, Italy Univ Milan, IRCCS Fdn Ca Granda Osped Maggiore Policlin, Dino Ferrari Ctr, Neurosci Sect,Dept Pathophysiol & Transplantat, Milan, Italy论文数: 引用数: h-index:机构:Moggio, M. G.论文数: 0 引用数: 0 h-index: 0机构: IRCCS Fdn Ca Granda Osped Maggiore Policlin, Dept Neurosci, Neuromuscular & Rare Dis Unit, Milan, Italy Univ Milan, IRCCS Fdn Ca Granda Osped Maggiore Policlin, Dino Ferrari Ctr, Neurosci Sect,Dept Pathophysiol & Transplantat, Milan, ItalyComi, G. P.论文数: 0 引用数: 0 h-index: 0机构: Univ Milan, IRCCS Fdn Ca Granda Osped Maggiore Policlin, Dino Ferrari Ctr, Neurosci Sect,Dept Pathophysiol & Transplantat, Milan, Italy Univ Milan, IRCCS Fdn Ca Granda Osped Maggiore Policlin, Dino Ferrari Ctr, Neurosci Sect,Dept Pathophysiol & Transplantat, Milan, Italy
- [7] Novel Homozygous Missense Mutation in RYR1 Leads to Severe Congenital Ptosis, Ophthalmoplegia, and Scoliosis in the Absence of MyopathyMOLECULAR SYNDROMOLOGY, 2018, 9 (01) : 25 - 29Dilaver, Nafi论文数: 0 引用数: 0 h-index: 0机构: Swansea Univ, Med Sch, Swansea, W Glam, Wales Swansea Univ, Med Sch, Swansea, W Glam, WalesMazaheri, Neda论文数: 0 引用数: 0 h-index: 0机构: Shahid Chamran Univ Ahvaz, Dept Genet, Fac Sci, Ahvaz 6135783151, Iran Ahvaz Jundishapur Univ Med Sci, Narges Med Genet & Prenatal Diag Lab, Fac Med, Ahvaz, Iran Swansea Univ, Med Sch, Swansea, W Glam, WalesMaroofian, Reza论文数: 0 引用数: 0 h-index: 0机构: St Georges Univ London, Genet & Mol Cell Sci Res Ctr, London, England Swansea Univ, Med Sch, Swansea, W Glam, WalesZeighami, Jawaher论文数: 0 引用数: 0 h-index: 0机构: Ahvaz Jundishapur Univ Med Sci, Narges Med Genet & Prenatal Diag Lab, Fac Med, Ahvaz, Iran Swansea Univ, Med Sch, Swansea, W Glam, WalesSeifi, Tahere论文数: 0 引用数: 0 h-index: 0机构: Shahid Chamran Univ Ahvaz, Dept Genet, Fac Sci, Ahvaz 6135783151, Iran Ahvaz Jundishapur Univ Med Sci, Narges Med Genet & Prenatal Diag Lab, Fac Med, Ahvaz, Iran Swansea Univ, Med Sch, Swansea, W Glam, WalesZamani, Mina论文数: 0 引用数: 0 h-index: 0机构: Shahid Chamran Univ Ahvaz, Dept Genet, Fac Sci, Ahvaz 6135783151, Iran Ahvaz Jundishapur Univ Med Sci, Narges Med Genet & Prenatal Diag Lab, Fac Med, Ahvaz, Iran Swansea Univ, Med Sch, Swansea, W Glam, WalesSedaghat, Alireza论文数: 0 引用数: 0 h-index: 0机构: Ahvaz Jundishapur Univ Med Sci, Narges Med Genet & Prenatal Diag Lab, Fac Med, Ahvaz, Iran Ahvaz Jundishapur Univ Med Sci, Dept Med Genet, Fac Med, Ahvaz, Iran Swansea Univ, Med Sch, Swansea, W Glam, WalesShariati, Gholam Reza论文数: 0 引用数: 0 h-index: 0机构: Ahvaz Jundishapur Univ Med Sci, Narges Med Genet & Prenatal Diag Lab, Fac Med, Ahvaz, Iran Ahvaz Jundishapur Univ Med Sci, Dept Med Genet, Fac Med, Ahvaz, Iran Swansea Univ, Med Sch, Swansea, W Glam, WalesGalehdari, Hamid论文数: 0 引用数: 0 h-index: 0机构: Shahid Chamran Univ Ahvaz, Dept Genet, Fac Sci, Ahvaz 6135783151, Iran Ahvaz Jundishapur Univ Med Sci, Narges Med Genet & Prenatal Diag Lab, Fac Med, Ahvaz, Iran Swansea Univ, Med Sch, Swansea, W Glam, Wales
- [8] Recessive RYR1 Mutations in a Patient With Severe Congenital Nemaline Myopathy With Ophthalomoplegia Identified Through Massively Parallel SequencingAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2012, 158A (04) : 772 - 778Kondo, Eri论文数: 0 引用数: 0 h-index: 0机构: Tokyo Womens Med Univ, Inst Med Genet, Shinjuku Ku, Tokyo 1620054, JapanNishimura, Takafumi论文数: 0 引用数: 0 h-index: 0机构: Shinshu Univ, Sch Med, Dept Pediat, Matsumoto, Nagano 3908621, Japan Tokyo Womens Med Univ, Inst Med Genet, Shinjuku Ku, Tokyo 1620054, JapanKosho, Tomoki论文数: 0 引用数: 0 h-index: 0机构: Shinshu Univ, Sch Med, Dept Med Genet, Matsumoto, Nagano 3908621, Japan Tokyo Womens Med Univ, Inst Med Genet, Shinjuku Ku, Tokyo 1620054, JapanInaba, Yuji论文数: 0 引用数: 0 h-index: 0机构: Shinshu Univ, Sch Med, Dept Pediat, Matsumoto, Nagano 3908621, Japan Tokyo Womens Med Univ, Inst Med Genet, Shinjuku Ku, Tokyo 1620054, JapanMitsuhashi, Satomi论文数: 0 引用数: 0 h-index: 0机构: Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Neuromuscular Res, Kodaira, Tokyo 187, Japan Tokyo Womens Med Univ, Inst Med Genet, Shinjuku Ku, Tokyo 1620054, JapanIshida, Takefumi论文数: 0 引用数: 0 h-index: 0机构: Shinshu Univ, Sch Med, Dept Pediat, Matsumoto, Nagano 3908621, Japan Tokyo Womens Med Univ, Inst Med Genet, Shinjuku Ku, Tokyo 1620054, JapanBaba, Atsushi论文数: 0 引用数: 0 h-index: 0机构: Shinshu Univ, Sch Med, Dept Pediat, Matsumoto, Nagano 3908621, Japan Tokyo Womens Med Univ, Inst Med Genet, Shinjuku Ku, Tokyo 1620054, JapanKoike, Kenichi论文数: 0 引用数: 0 h-index: 0机构: Shinshu Univ, Sch Med, Dept Pediat, Matsumoto, Nagano 3908621, Japan Tokyo Womens Med Univ, Inst Med Genet, Shinjuku Ku, Tokyo 1620054, Japan论文数: 引用数: h-index:机构:Nonaka, Ikuya论文数: 0 引用数: 0 h-index: 0机构: Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Neuromuscular Res, Kodaira, Tokyo 187, Japan Tokyo Womens Med Univ, Inst Med Genet, Shinjuku Ku, Tokyo 1620054, JapanFurukawa, Toru论文数: 0 引用数: 0 h-index: 0机构: Tokyo Womens Med Univ, Inst Integrated Med Sci, Tokyo 1620054, Japan Tokyo Womens Med Univ, Inst Med Genet, Shinjuku Ku, Tokyo 1620054, JapanSaito, Kayoko论文数: 0 引用数: 0 h-index: 0机构: Tokyo Womens Med Univ, Inst Med Genet, Shinjuku Ku, Tokyo 1620054, Japan Tokyo Womens Med Univ, Inst Med Genet, Shinjuku Ku, Tokyo 1620054, Japan
- [9] Whole genome sequencing reveals compound heterozygous RYR1 variants in a patient with severe congenital myopathy: case report and comparison with additional cases of recessive RYR1-related myopathyEUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1524 - 1524Janssen, Soren论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp Bochum, Dept Neuropediat, Bochum, Germany Univ Childrens Hosp Bochum, Dept Neuropediat, Bochum, GermanyErbe, Leoni论文数: 0 引用数: 0 h-index: 0机构: Ruhr Univ Bochum, Dept Human Genet, Bochum, Germany Univ Childrens Hosp Bochum, Dept Neuropediat, Bochum, GermanyKneifel, Moritz论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Bergmannsheil, Heimer Inst Muscle Res, Dept Neurol, Bochum, Germany Univ Childrens Hosp Bochum, Dept Neuropediat, Bochum, GermanyVorgerd, Matthias论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Bergmannsheil, Heimer Inst Muscle Res, Dept Neurol, Bochum, Germany Univ Childrens Hosp Bochum, Dept Neuropediat, Bochum, GermanyDoring, Kristina论文数: 0 引用数: 0 h-index: 0机构: Ruhr Univ Bochum, Dept Human Genet, Bochum, Germany Univ Childrens Hosp Bochum, Dept Neuropediat, Bochum, GermanyLubieniecki, Krzysztof P.论文数: 0 引用数: 0 h-index: 0机构: Ruhr Univ Bochum, Dept Human Genet, Bochum, Germany Univ Childrens Hosp Bochum, Dept Neuropediat, Bochum, GermanyLubieniecka, Joanna论文数: 0 引用数: 0 h-index: 0机构: Ruhr Univ Bochum, Dept Human Genet, Bochum, Germany Univ Childrens Hosp Bochum, Dept Neuropediat, Bochum, GermanyGerding, Wanda论文数: 0 引用数: 0 h-index: 0机构: Ruhr Univ Bochum, Dept Human Genet, Bochum, Germany Univ Childrens Hosp Bochum, Dept Neuropediat, Bochum, GermanyCasadei, Nicolas论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, Germany Univ Childrens Hosp Bochum, Dept Neuropediat, Bochum, GermanyLuecke, Thomas论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp Bochum, Dept Neuropediat, Bochum, Germany Univ Childrens Hosp Bochum, Dept Neuropediat, Bochum, GermanyHuu Phuc Nguyen论文数: 0 引用数: 0 h-index: 0机构: Ruhr Univ Bochum, Dept Human Genet, Bochum, Germany Univ Childrens Hosp Bochum, Dept Neuropediat, Bochum, GermanyKohler, Cornelia论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp Bochum, Dept Neuropediat, Bochum, Germany Univ Childrens Hosp Bochum, Dept Neuropediat, Bochum, GermanyHoffjan, Sabine论文数: 0 引用数: 0 h-index: 0机构: Ruhr Univ Bochum, Dept Human Genet, Bochum, Germany Univ Childrens Hosp Bochum, Dept Neuropediat, Bochum, Germany
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