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- [1] 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
- [2] Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with coresNEUROLOGY, 2002, 59 (02) : 284 - 287Jungbluth, H论文数: 0 引用数: 0 h-index: 0机构: Univ London Imperial Coll Sci & Technol, Fac Med, Dubowitz Neuromuscular Ctr, London W12 0NN, EnglandMüller, CR论文数: 0 引用数: 0 h-index: 0机构: Univ London Imperial Coll Sci & Technol, Fac Med, Dubowitz Neuromuscular Ctr, London W12 0NN, EnglandHalliger-Keller, B论文数: 0 引用数: 0 h-index: 0机构: Univ London Imperial Coll Sci & Technol, Fac Med, Dubowitz Neuromuscular Ctr, London W12 0NN, EnglandBrockington, M论文数: 0 引用数: 0 h-index: 0机构: Univ London Imperial Coll Sci & Technol, Fac Med, Dubowitz Neuromuscular Ctr, London W12 0NN, EnglandBrown, SC论文数: 0 引用数: 0 h-index: 0机构: Univ London Imperial Coll Sci & Technol, Fac Med, Dubowitz Neuromuscular Ctr, London W12 0NN, EnglandFeng, L论文数: 0 引用数: 0 h-index: 0机构: Univ London Imperial Coll Sci & Technol, Fac Med, Dubowitz Neuromuscular Ctr, London W12 0NN, EnglandChattopadhyay, A论文数: 0 引用数: 0 h-index: 0机构: Univ London Imperial Coll Sci & Technol, Fac Med, Dubowitz Neuromuscular Ctr, London W12 0NN, EnglandMercuri, E论文数: 0 引用数: 0 h-index: 0机构: Univ London Imperial Coll Sci & Technol, Fac Med, Dubowitz Neuromuscular Ctr, London W12 0NN, EnglandManzur, AY论文数: 0 引用数: 0 h-index: 0机构: Univ London Imperial Coll Sci & Technol, Fac Med, Dubowitz Neuromuscular Ctr, London W12 0NN, EnglandFerreiro, A论文数: 0 引用数: 0 h-index: 0机构: Univ London Imperial Coll Sci & Technol, Fac Med, Dubowitz Neuromuscular Ctr, London W12 0NN, EnglandLaing, NG论文数: 0 引用数: 0 h-index: 0机构: Univ London Imperial Coll Sci & Technol, Fac Med, Dubowitz Neuromuscular Ctr, London W12 0NN, EnglandDavis, MR论文数: 0 引用数: 0 h-index: 0机构: Univ London Imperial Coll Sci & Technol, Fac Med, Dubowitz Neuromuscular Ctr, London W12 0NN, EnglandRoper, HP论文数: 0 引用数: 0 h-index: 0机构: Univ London Imperial Coll Sci & Technol, Fac Med, Dubowitz Neuromuscular Ctr, London W12 0NN, EnglandDubowitz, V论文数: 0 引用数: 0 h-index: 0机构: Univ London Imperial Coll Sci & Technol, Fac Med, Dubowitz Neuromuscular Ctr, London W12 0NN, EnglandBydder, G论文数: 0 引用数: 0 h-index: 0机构: Univ London Imperial Coll Sci & Technol, Fac Med, Dubowitz Neuromuscular Ctr, London W12 0NN, EnglandSewry, CA论文数: 0 引用数: 0 h-index: 0机构: Univ London Imperial Coll Sci & Technol, Fac Med, Dubowitz Neuromuscular Ctr, London W12 0NN, EnglandMuntoni, F论文数: 0 引用数: 0 h-index: 0机构: Univ London Imperial Coll Sci & Technol, Fac Med, Dubowitz Neuromuscular Ctr, London W12 0NN, England
- [3] 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
- [4] 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
- [5] 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
- [6] 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
- [7] Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutationActa Neuropathologica, 2012, 124 : 575 - 581Johann Böhm论文数: 0 引用数: 0 h-index: 0机构: IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire),Department of Translational Medecine and NeurogeneticsEsther Leshinsky-Silver论文数: 0 引用数: 0 h-index: 0机构: IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire),Department of Translational Medecine and NeurogeneticsStéphane Vassilopoulos论文数: 0 引用数: 0 h-index: 0机构: IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire),Department of Translational Medecine and NeurogeneticsStéphanie Le Gras论文数: 0 引用数: 0 h-index: 0机构: IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire),Department of Translational Medecine and NeurogeneticsTally Lerman-Sagie论文数: 0 引用数: 0 h-index: 0机构: IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire),Department of Translational Medecine and NeurogeneticsMira Ginzberg论文数: 0 引用数: 0 h-index: 0机构: IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire),Department of Translational Medecine and NeurogeneticsBernard Jost论文数: 0 引用数: 0 h-index: 0机构: IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire),Department of Translational Medecine and NeurogeneticsDorit Lev论文数: 0 引用数: 0 h-index: 0机构: IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire),Department of Translational Medecine and NeurogeneticsJocelyn Laporte论文数: 0 引用数: 0 h-index: 0机构: IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire),Department of Translational Medecine and Neurogenetics
- [8] Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutationACTA NEUROPATHOLOGICA, 2012, 124 (04) : 575 - 581Boehm, Johann论文数: 0 引用数: 0 h-index: 0机构: IGBMC, Dept Translat Med & Neurogenet, F-67404 Illkirch Graffenstaden, France INSERM, U964, F-67404 Illkirch Graffenstaden, France CNRS, UMR7104, F-67404 Illkirch Graffenstaden, France Univ Strasbourg, F-67404 Illkirch Graffenstaden, France Coll France, Chaire Genet Humaine, F-67404 Illkirch Graffenstaden, France IGBMC, Dept Translat Med & Neurogenet, F-67404 Illkirch Graffenstaden, FranceLeshinsky-Silver, Esther论文数: 0 引用数: 0 h-index: 0机构: Wolfson Med Ctr, Mol Genet Lab, IL-58100 Holon, Israel Wolfson Med Ctr, Metab Neurogenet Clin, IL-58100 Holon, Israel Tel Aviv Univ, Sackler Sch Med, IL-69978 Tel Aviv, Israel IGBMC, Dept Translat Med & Neurogenet, F-67404 Illkirch Graffenstaden, FranceVassilopoulos, Stephane论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 06, INSERM U974, Inst Myol, UM76, F-75013 Paris, France CNRS UMR7215, F-75013 Paris, France IGBMC, Dept Translat Med & Neurogenet, F-67404 Illkirch Graffenstaden, FranceLe Gras, Stephanie论文数: 0 引用数: 0 h-index: 0机构: IGBMC, DNA Microarrays & Sequencing Platform, F-67404 Illkirch Graffenstaden, France IGBMC, Dept Translat Med & Neurogenet, F-67404 Illkirch Graffenstaden, FranceLerman-Sagie, Tally论文数: 0 引用数: 0 h-index: 0机构: Wolfson Med Ctr, Metab Neurogenet Clin, IL-58100 Holon, Israel Tel Aviv Univ, Sackler Sch Med, IL-69978 Tel Aviv, Israel IGBMC, Dept Translat Med & Neurogenet, F-67404 Illkirch Graffenstaden, FranceGinzberg, Mira论文数: 0 引用数: 0 h-index: 0机构: Wolfson Med Ctr, Metab Neurogenet Clin, IL-58100 Holon, Israel IGBMC, Dept Translat Med & Neurogenet, F-67404 Illkirch Graffenstaden, FranceJost, Bernard论文数: 0 引用数: 0 h-index: 0机构: IGBMC, DNA Microarrays & Sequencing Platform, F-67404 Illkirch Graffenstaden, France IGBMC, Dept Translat Med & Neurogenet, F-67404 Illkirch Graffenstaden, FranceLev, Dorit论文数: 0 引用数: 0 h-index: 0机构: Wolfson Med Ctr, Metab Neurogenet Clin, IL-58100 Holon, Israel Tel Aviv Univ, Sackler Sch Med, IL-69978 Tel Aviv, Israel Wolfson Med Ctr, Inst Med Genet, IL-58100 Holon, Israel IGBMC, Dept Translat Med & Neurogenet, F-67404 Illkirch Graffenstaden, FranceLaporte, Jocelyn论文数: 0 引用数: 0 h-index: 0机构: IGBMC, Dept Translat Med & Neurogenet, F-67404 Illkirch Graffenstaden, France INSERM, U964, F-67404 Illkirch Graffenstaden, France CNRS, UMR7104, F-67404 Illkirch Graffenstaden, France Univ Strasbourg, F-67404 Illkirch Graffenstaden, France Coll France, Chaire Genet Humaine, F-67404 Illkirch Graffenstaden, France IGBMC, Dept Translat Med & Neurogenet, F-67404 Illkirch Graffenstaden, France
- [9] Characterization of RYR1 variants in congenital myopathy zebrafish modelsNEUROMUSCULAR DISORDERS, 2024, 43Sinclair, 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 USATodd, 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 USAFeldman, B.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 USALawal, T.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
- [10] Congenital fiber type disproportion myopathy and novel compound heterozygous mutations in the RYR1 gene. Next generation sequencing-A first line diagnostic tool for congenital myopathyNEUROMUSCULAR DISORDERS, 2016, 26 : S137 - S137Takamura, K.论文数: 0 引用数: 0 h-index: 0机构: Univ Minnesota, Minneapolis, MN USA Univ Minnesota, Minneapolis, MN USADalton, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Minnesota, Minneapolis, MN USA Univ Minnesota, Minneapolis, MN USAKarachunski, P.论文数: 0 引用数: 0 h-index: 0机构: Univ Minnesota, Minneapolis, MN USA Univ Minnesota, Minneapolis, MN USA