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- [1] Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals[J]. Journal of Human Genetics, 2024, 69 : 187 - 196Francisco Javier Cotrina-Vinagre论文数: 0 引用数: 0 h-index: 0机构: Mitocondriales y Neuromusculares (ERMN). Instituto de Investigación Hospital 12 de Octubre (i+12),Grupo de Enfermedades RarasMaría Elena Rodríguez-García论文数: 0 引用数: 0 h-index: 0机构: Mitocondriales y Neuromusculares (ERMN). Instituto de Investigación Hospital 12 de Octubre (i+12),Grupo de Enfermedades RarasLucía del Pozo-Filíu论文数: 0 引用数: 0 h-index: 0机构: Mitocondriales y Neuromusculares (ERMN). Instituto de Investigación Hospital 12 de Octubre (i+12),Grupo de Enfermedades RarasAurelio Hernández-Laín论文数: 0 引用数: 0 h-index: 0机构: Mitocondriales y Neuromusculares (ERMN). Instituto de Investigación Hospital 12 de Octubre (i+12),Grupo de Enfermedades RarasAna Arteche-López论文数: 0 引用数: 0 h-index: 0机构: Mitocondriales y Neuromusculares (ERMN). Instituto de Investigación Hospital 12 de Octubre (i+12),Grupo de Enfermedades RarasBeatriz Morte论文数: 0 引用数: 0 h-index: 0机构: Mitocondriales y Neuromusculares (ERMN). Instituto de Investigación Hospital 12 de Octubre (i+12),Grupo de Enfermedades RarasMarta Sevilla论文数: 0 引用数: 0 h-index: 0机构: Mitocondriales y Neuromusculares (ERMN). Instituto de Investigación Hospital 12 de Octubre (i+12),Grupo de Enfermedades RarasLuis Alberto Pérez-Jurado论文数: 0 引用数: 0 h-index: 0机构: Mitocondriales y Neuromusculares (ERMN). Instituto de Investigación Hospital 12 de Octubre (i+12),Grupo de Enfermedades RarasPilar Quijada-Fraile论文数: 0 引用数: 0 h-index: 0机构: Mitocondriales y Neuromusculares (ERMN). Instituto de Investigación Hospital 12 de Octubre (i+12),Grupo de Enfermedades RarasAna Camacho论文数: 0 引用数: 0 h-index: 0机构: Mitocondriales y Neuromusculares (ERMN). Instituto de Investigación Hospital 12 de Octubre (i+12),Grupo de Enfermedades RarasFrancisco Martínez-Azorín论文数: 0 引用数: 0 h-index: 0机构: Mitocondriales y Neuromusculares (ERMN). Instituto de Investigación Hospital 12 de Octubre (i+12),Grupo de Enfermedades Raras
- [2] Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals[J]. JOURNAL OF HUMAN GENETICS, 2024, 69 (05) : 187 - 196Cotrina-Vinagre, Francisco Javier论文数: 0 引用数: 0 h-index: 0机构: Hosp 12 Octubre i 12, Grp Enfermedades Raras Mitocondriales & Neuromuscu, Inst Invest, Madrid, Spain Hosp 12 Octubre i 12, Grp Enfermedades Raras Mitocondriales & Neuromuscu, Inst Invest, Madrid, SpainRodriguez-Garcia, Maria Elena论文数: 0 引用数: 0 h-index: 0机构: Hosp 12 Octubre i 12, Grp Enfermedades Raras Mitocondriales & Neuromuscu, Inst Invest, Madrid, Spain ISCIII, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain Hosp 12 Octubre i 12, Grp Enfermedades Raras Mitocondriales & Neuromuscu, Inst Invest, Madrid, Spaindel Pozo-Filiu, Lucia论文数: 0 引用数: 0 h-index: 0机构: Hosp 12 Octubre i 12, Grp Enfermedades Raras Mitocondriales & Neuromuscu, Inst Invest, Madrid, Spain Hosp 12 Octubre i 12, Grp Enfermedades Raras Mitocondriales & Neuromuscu, Inst Invest, Madrid, SpainHernandez-Lain, Aurelio论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ 12 Octubre, Serv Anat Patol Neuropatol, Madrid, Spain Hosp 12 Octubre i 12, Grp Enfermedades Raras Mitocondriales & Neuromuscu, Inst Invest, Madrid, SpainArteche-Lopez, Ana论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ 12 Octubre, Serv Genet, E-28041 Madrid, Spain Hosp 12 Octubre i 12, Grp Enfermedades Raras Mitocondriales & Neuromuscu, Inst Invest, Madrid, SpainMorte, Beatriz论文数: 0 引用数: 0 h-index: 0机构: ISCIII, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain UAM, CSIC, Inst Invest Biomed Alberto Sols, Madrid, Spain Hosp 12 Octubre i 12, Grp Enfermedades Raras Mitocondriales & Neuromuscu, Inst Invest, Madrid, SpainSevilla, Marta论文数: 0 引用数: 0 h-index: 0机构: ISCIII, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain Univ Pompeu Fabra, Dept Med & Life Sci, Barcelona, Spain Hosp Del Mar, Genet Serv, Barcelona, Spain Hosp 12 Octubre i 12, Grp Enfermedades Raras Mitocondriales & Neuromuscu, Inst Invest, Madrid, SpainPerez-Jurado, Luis Alberto论文数: 0 引用数: 0 h-index: 0机构: ISCIII, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain Univ Pompeu Fabra, Dept Med & Life Sci, Barcelona, Spain Hosp Del Mar, Genet Serv, Barcelona, Spain Hosp 12 Octubre i 12, Grp Enfermedades Raras Mitocondriales & Neuromuscu, Inst Invest, Madrid, SpainQuijada-Fraile, Pilar论文数: 0 引用数: 0 h-index: 0机构: Hosp 12 Octubre, Unidad Pediat Enfermedades Raras Enfermedades Mito, Madrid, Spain Hosp 12 Octubre i 12, Grp Enfermedades Raras Mitocondriales & Neuromuscu, Inst Invest, Madrid, SpainCamacho, Ana论文数: 0 引用数: 0 h-index: 0机构: Univ Complutense Madrid, Hosp Octubre 12, Secc Neurol Infantil, Madrid, Spain Hosp 12 Octubre i 12, Grp Enfermedades Raras Mitocondriales & Neuromuscu, Inst Invest, Madrid, SpainMartinez-Azorin, Francisco论文数: 0 引用数: 0 h-index: 0机构: Hosp 12 Octubre i 12, Grp Enfermedades Raras Mitocondriales & Neuromuscu, Inst Invest, Madrid, Spain ISCIII, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain Hosp 12 Octubre i 12, Grp Enfermedades Raras Mitocondriales & Neuromuscu, Inst Invest, Madrid, Spain
- [3] Recessive VAMP1 mutations associated with severe congenital myasthenic syndromes-A recognizable clinical phenotype[J]. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 2021, 31 : 54 - 60Polavarapu, Kiran论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Mental Hlth & Neurosci, Dept Neurol, Bengaluru, India Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada Natl Inst Mental Hlth & Neurosci, Dept Neurol, Bengaluru, IndiaVengalil, Seena论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Mental Hlth & Neurosci, Dept Neurol, Bengaluru, India Natl Inst Mental Hlth & Neurosci, Dept Neurol, Bengaluru, IndiaPreethish-Kumar, Veeramani论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Mental Hlth & Neurosci, Dept Neurol, Bengaluru, India Natl Inst Mental Hlth & Neurosci, Dept Neurol, Bengaluru, IndiaArunachal, Gautham论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Mental Hlth & Neurosci, Human Genet, Bengaluru, India Natl Inst Mental Hlth & Neurosci, Dept Neurol, Bengaluru, IndiaNashi, Saraswati论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Mental Hlth & Neurosci, Dept Neurol, Bengaluru, India Natl Inst Mental Hlth & Neurosci, Dept Neurol, Bengaluru, IndiaMohan, Dhaarini论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Mental Hlth & Neurosci, Dept Neurol, Bengaluru, India Natl Inst Mental Hlth & Neurosci, Dept Neurol, Bengaluru, IndiaChawla, Tanushree论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Mental Hlth & Neurosci, Dept Neurol, Bengaluru, India Natl Inst Mental Hlth & Neurosci, Dept Neurol, Bengaluru, IndiaBardhan, Mainak论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Mental Hlth & Neurosci, Dept Neurol, Bengaluru, India Natl Inst Mental Hlth & Neurosci, Dept Neurol, Bengaluru, IndiaNandeesh, Bevinahalli论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Mental Hlth & Neurosci, Neuropathol, Bengaluru, India Natl Inst Mental Hlth & Neurosci, Dept Neurol, Bengaluru, IndiaGupta, Priya论文数: 0 引用数: 0 h-index: 0机构: Indira Gandhi Inst Child Hlth, Dept Pediat Neurol, Bangalore, Karnataka, India Natl Inst Mental Hlth & Neurosci, Dept Neurol, Bengaluru, IndiaGowda, Vykuntaraju K.论文数: 0 引用数: 0 h-index: 0机构: Indira Gandhi Inst Child Hlth, Dept Pediat Neurol, Bangalore, Karnataka, India Natl Inst Mental Hlth & Neurosci, Dept Neurol, Bengaluru, IndiaLochmuller, Hanns论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada Ottawa Hosp, Div Neurol, Dept Med, Ottawa, ON, Canada Univ Ottawa, Brain & Mind Res Inst, Ottawa, ON, Canada Natl Inst Mental Hlth & Neurosci, Dept Neurol, Bengaluru, IndiaNalini, Atchayaram论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Mental Hlth & Neurosci, Dept Neurol, Bengaluru, India Natl Inst Mental Hlth & Neurosci, Dept Neurol, Bengaluru, India
- [4] First report of a VAMP1 associated pre-synaptic congenital myasthenic syndrome from South-East Asia[J]. JOURNAL OF THE NEUROLOGICAL SCIENCES, 2019, 405Vengalil, S.论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Mental Hlth & Neurosci, Dept Neurol, Bengaluru, India Natl Inst Mental Hlth & Neurosci, Dept Neurol, Bengaluru, IndiaPolavarapu, K.论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Mental Hlth & Neurosci, Dept Neurol, Bengaluru, India Natl Inst Mental Hlth & Neurosci, Dept Neurol, Bengaluru, IndiaPreetish-Kumar, V.论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Mental Hlth & Neurosci, Dept Neurol, Bengaluru, India Natl Inst Mental Hlth & Neurosci, Dept Neurol, Bengaluru, IndiaArunachal, G.论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Mental Hlth & Neurosci, Dept Genet, Bengaluru, India Natl Inst Mental Hlth & Neurosci, Dept Neurol, Bengaluru, IndiaMahajan, N. Prakash论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Mental Hlth & Neurosci, Dept Neurol, Bengaluru, India Natl Inst Mental Hlth & Neurosci, Dept Neurol, Bengaluru, IndiaNashi, S.论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Mental Hlth & Neurosci, Dept Neurol, Bengaluru, India Natl Inst Mental Hlth & Neurosci, Dept Neurol, Bengaluru, IndiaMuddasu, K.论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Mental Hlth & Neurosci, Dept Neurol, Bengaluru, India Natl Inst Mental Hlth & Neurosci, Dept Neurol, Bengaluru, IndiaReddy, C. P. C.论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Mental Hlth & Neurosci, Dept Neurol, Bengaluru, India Natl Inst Mental Hlth & Neurosci, Dept Neurol, Bengaluru, IndiaNalini, A.论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Mental Hlth & Neurosci, Dept Neurol, Bengaluru, India Natl Inst Mental Hlth & Neurosci, Dept Neurol, Bengaluru, India
- [5] Presynaptic congenital myasthenic syndrome[J]. JOURNAL OF NEUROLOGY, 2006, 253 : 105 - 105Lorenzoni, P. J.论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Parana, BR-80060000 Curitiba, Parana, Brazil Univ Fed Parana, BR-80060000 Curitiba, Parana, BrazilGervini, B. L.论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Parana, BR-80060000 Curitiba, Parana, Brazil Univ Fed Parana, BR-80060000 Curitiba, Parana, BrazilKay, C. S. K.论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Parana, BR-80060000 Curitiba, Parana, Brazil Univ Fed Parana, BR-80060000 Curitiba, Parana, BrazilScola, R. H.论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Parana, BR-80060000 Curitiba, Parana, Brazil Univ Fed Parana, BR-80060000 Curitiba, Parana, BrazilWerneck, L. C.论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Parana, BR-80060000 Curitiba, Parana, Brazil Univ Fed Parana, BR-80060000 Curitiba, Parana, Brazil
- [6] Mutations in COl13A1 cause a congenital myasthenic syndrome[J]. NEUROMUSCULAR DISORDERS, 2016, 26 : S33 - S34Cossins, J.论文数: 0 引用数: 0 h-index: 0机构: Weatherall Inst Mol Med, Neurosci Grp, Oxford, England Weatherall Inst Mol Med, Neurosci Grp, Oxford, EnglandCruz, P. Rodriguez论文数: 0 引用数: 0 h-index: 0机构: Weatherall Inst Mol Med, Neurosci Grp, Oxford, England JR Hosp, Nuffield Dept Clin Neurosci, Oxford, England Weatherall Inst Mol Med, Neurosci Grp, Oxford, EnglandMaxwell, S.论文数: 0 引用数: 0 h-index: 0机构: Weatherall Inst Mol Med, Neurosci Grp, Oxford, England Weatherall Inst Mol Med, Neurosci Grp, Oxford, EnglandPalace, J.论文数: 0 引用数: 0 h-index: 0机构: JR Hosp, Nuffield Dept Clin Neurosci, Oxford, England Weatherall Inst Mol Med, Neurosci Grp, Oxford, EnglandRobb, S.论文数: 0 引用数: 0 h-index: 0机构: Inst Child Hlth & Great Ormond St Hosp, Dubowitz Neuromuscular Ctr, London, England Weatherall Inst Mol Med, Neurosci Grp, Oxford, EnglandLogan, C.论文数: 0 引用数: 0 h-index: 0机构: Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, England Weatherall Inst Mol Med, Neurosci Grp, Oxford, EnglandChow, G.论文数: 0 引用数: 0 h-index: 0机构: Nottingham Univ Hosp NHS Trust, Nottingham City Hosp, Dept Paediat Neurol, Hucknall Rd, Nottingham, England Weatherall Inst Mol Med, Neurosci Grp, Oxford, EnglandJohnson, C.论文数: 0 引用数: 0 h-index: 0机构: Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, England Weatherall Inst Mol Med, Neurosci Grp, Oxford, EnglandBeeson, D.论文数: 0 引用数: 0 h-index: 0机构: Weatherall Inst Mol Med, Neurosci Grp, Oxford, England JR Hosp, Nuffield Dept Clin Neurosci, Oxford, England Weatherall Inst Mol Med, Neurosci Grp, Oxford, England
- [7] Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies[J]. BRAIN, 2015, 138 : 2493 - 2504Belaya, Katsiaryna论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Weatherall Inst Mol Med, Nuffield Dept Clin Neurosci, Neurosci Grp, London OX3 9DS, England Univ Oxford, Weatherall Inst Mol Med, Nuffield Dept Clin Neurosci, Neurosci Grp, London OX3 9DS, EnglandCruz, Pedro M. Rodriguez论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Weatherall Inst Mol Med, Nuffield Dept Clin Neurosci, Neurosci Grp, London OX3 9DS, England John Radcliffe Hosp, Nuffield Dept Clin Neurosci, Oxford OX3 9DU, England Univ Oxford, Weatherall Inst Mol Med, Nuffield Dept Clin Neurosci, Neurosci Grp, London OX3 9DS, EnglandLiu, Wei Wei论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Weatherall Inst Mol Med, Nuffield Dept Clin Neurosci, Neurosci Grp, London OX3 9DS, England Univ Oxford, Weatherall Inst Mol Med, Nuffield Dept Clin Neurosci, Neurosci Grp, London OX3 9DS, EnglandMaxwell, Susan论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Weatherall Inst Mol Med, Nuffield Dept Clin Neurosci, Neurosci Grp, London OX3 9DS, England Univ Oxford, Weatherall Inst Mol Med, Nuffield Dept Clin Neurosci, Neurosci Grp, London OX3 9DS, EnglandMcGowan, Simon论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Weatherall Inst Mol Med, Computat Biol Res Grp, Oxford OX3 9DS, England Univ Oxford, Weatherall Inst Mol Med, Nuffield Dept Clin Neurosci, Neurosci Grp, London OX3 9DS, EnglandFarrugia, Maria E.论文数: 0 引用数: 0 h-index: 0机构: So Gen Hosp, Inst Neurol Sci, Dept Neurol, Glasgow G51 4TF, Lanark, Scotland Univ Oxford, Weatherall Inst Mol Med, Nuffield Dept Clin Neurosci, Neurosci Grp, London OX3 9DS, EnglandPetty, Richard论文数: 0 引用数: 0 h-index: 0机构: So Gen Hosp, Inst Neurol Sci, Dept Neurol, Glasgow G51 4TF, Lanark, Scotland Univ Oxford, Weatherall Inst Mol Med, Nuffield Dept Clin Neurosci, Neurosci Grp, London OX3 9DS, EnglandWalls, Timothy J.论文数: 0 引用数: 0 h-index: 0机构: Royal Victoria Infirm, Dept Neurol, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, England Univ Oxford, Weatherall Inst Mol Med, Nuffield Dept Clin Neurosci, Neurosci Grp, London OX3 9DS, EnglandSedghi, Maryam论文数: 0 引用数: 0 h-index: 0机构: Isfahan Univ Med Sci, Alzahra Univ Hosp, Med Genet Lab, Esfahan, Iran Univ Oxford, Weatherall Inst Mol Med, Nuffield Dept Clin Neurosci, Neurosci Grp, London OX3 9DS, England论文数: 引用数: h-index:机构:Yue, Wyatt W.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Struct Genom Consortium, Oxford OX3 7DQ, England Univ Oxford, Weatherall Inst Mol Med, Nuffield Dept Clin Neurosci, Neurosci Grp, London OX3 9DS, EnglandSarkozy, Anna论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, MRC Ctr Neuromuscular Dis, John Walton Muscular Dystrophy Res Ctr, Inst Med Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London, England Natl Hosp Neurol & Neurosurg, London WC1N 3BG, England Univ Oxford, Weatherall Inst Mol Med, Nuffield Dept Clin Neurosci, Neurosci Grp, London OX3 9DS, EnglandBertoli, Marta论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, MRC Ctr Neuromuscular Dis, John Walton Muscular Dystrophy Res Ctr, Inst Med Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Univ Oxford, Weatherall Inst Mol Med, Nuffield Dept Clin Neurosci, Neurosci Grp, London OX3 9DS, EnglandPitt, Matthew论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Children NHS Fdn Trust, Dept Clin Neurophysiol, London WC1N 3JH, England Univ Oxford, Weatherall Inst Mol Med, Nuffield Dept Clin Neurosci, Neurosci Grp, London OX3 9DS, EnglandKennett, Robin论文数: 0 引用数: 0 h-index: 0机构: John Radcliffe Hosp, Nuffield Dept Clin Neurosci, Oxford OX3 9DU, England Univ Oxford, Weatherall Inst Mol Med, Nuffield Dept Clin Neurosci, Neurosci Grp, London OX3 9DS, EnglandSchaefer, Andrew论文数: 0 引用数: 0 h-index: 0机构: Royal Victoria Infirm, Dept Neurol, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, England Univ Oxford, Weatherall Inst Mol Med, Nuffield Dept Clin Neurosci, Neurosci Grp, London OX3 9DS, EnglandBushby, Kate论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, MRC Ctr Neuromuscular Dis, John Walton Muscular Dystrophy Res Ctr, Inst Med Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Univ Oxford, Weatherall Inst Mol Med, Nuffield Dept Clin Neurosci, Neurosci Grp, London OX3 9DS, EnglandParton, Matt论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London, England Natl Hosp Neurol & Neurosurg, London WC1N 3BG, England Univ Oxford, Weatherall Inst Mol Med, Nuffield Dept Clin Neurosci, Neurosci Grp, London OX3 9DS, EnglandLochmueller, Hanns论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, MRC Ctr Neuromuscular Dis, John Walton Muscular Dystrophy Res Ctr, Inst Med Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England Univ Oxford, Weatherall Inst Mol Med, Nuffield Dept Clin Neurosci, Neurosci Grp, London OX3 9DS, EnglandPalace, Jacqueline论文数: 0 引用数: 0 h-index: 0机构: John Radcliffe Hosp, Nuffield Dept Clin Neurosci, Oxford OX3 9DU, England Univ Oxford, Weatherall Inst Mol Med, Nuffield Dept Clin Neurosci, Neurosci Grp, London OX3 9DS, EnglandMuntoni, Francesco论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England UCL Inst Child Hlth, MRC Ctr Neuromuscular Dis, London WC1N 1EH, England Univ Oxford, Weatherall Inst Mol Med, Nuffield Dept Clin Neurosci, Neurosci Grp, London OX3 9DS, England论文数: 引用数: h-index:机构:
- [8] A presynaptic congenital myasthenic syndrome attributed to a homozygous sequence variant in LAMA5[J]. ANNALS OF THE NEW YORK ACADEMY OF SCIENCES, 2018, 1413 (01) : 119 - 125Maselli, Ricardo A.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Davis, Dept Neurol, Sacramento, CA USA Univ Calif Davis, Dept Neurol, Sacramento, CA USAArredondo, Juan论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Davis, Dept Neurol, Sacramento, CA USA Univ Calif Davis, Dept Neurol, Sacramento, CA USAVazquez, Jessica论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Davis, Dept Neurol, Sacramento, CA USA Univ Calif Davis, Dept Neurol, Sacramento, CA USAChong, Jessica X.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Pediat, Seattle, WA 98195 USA Univ Calif Davis, Dept Neurol, Sacramento, CA USABamshad, Michael J.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Pediat, Seattle, WA 98195 USA Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA Seattle Childrens Hosp, Div Med Genet, Seattle, WA USA Univ Calif Davis, Dept Neurol, Sacramento, CA USANickerson, Deborah A.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA Univ Calif Davis, Dept Neurol, Sacramento, CA USALara, Marian论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Davis, Dept Neurol, Sacramento, CA USA Univ Calif Davis, Dept Neurol, Sacramento, CA USANg, Fiona论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Davis, Dept Neurol, Sacramento, CA USA Univ Calif Davis, Dept Neurol, Sacramento, CA USALo, Victoria Lee论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Davis, Dept Neurol, Sacramento, CA USA Univ Calif Davis, Dept Neurol, Sacramento, CA USAPytel, Peter论文数: 0 引用数: 0 h-index: 0机构: Univ Chicago, Dept Pathol, 5841 S Maryland Ave, Chicago, IL 60637 USA Univ Calif Davis, Dept Neurol, Sacramento, CA USAMcDonald, Craig M.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Davis, Dept Med & Rehabil, Sacramento, CA 95817 USA Univ Calif Davis, Dept Neurol, Sacramento, CA USA
- [9] Congenital Myasthenic Syndrome Due to Homozygous CHRNE Mutations: Report of Patients in Arabia[J]. JOURNAL OF NEURO-OPHTHALMOLOGY, 2011, 31 (01) : 42 - 47Salih, Mustafa A.论文数: 0 引用数: 0 h-index: 0机构: King Saud Univ, Coll Med, Dept Pediat Neurol, Riyadh 11461, Saudi Arabia King Saud Univ, Coll Med, Dept Ophthalmol, Riyadh 11461, Saudi ArabiaOystreck, Darren T.论文数: 0 引用数: 0 h-index: 0机构: King Saud Univ, Coll Med, Dept Ophthalmol, Riyadh 11461, Saudi Arabia King Saud Univ, Coll Med, Dept Ophthalmol, Riyadh 11461, Saudi ArabiaAl-Faky, Yasser H.论文数: 0 引用数: 0 h-index: 0机构: King Saud Univ, Coll Med, Dept Ophthalmol, Riyadh 11461, Saudi Arabia King Saud Univ, Coll Med, Dept Ophthalmol, Riyadh 11461, Saudi ArabiaKabiraj, Mohammed论文数: 0 引用数: 0 h-index: 0机构: Armed Forces Hosp, Div Neurophysiol, Dept Neurosci, Riyadh, Saudi Arabia King Saud Univ, Coll Med, Dept Ophthalmol, Riyadh 11461, Saudi ArabiaOmer, Mohamed I. A.论文数: 0 引用数: 0 h-index: 0机构: King Saud Univ, Coll Med, Dept Ophthalmol, Riyadh 11461, Saudi ArabiaSubahi, Elamin M.论文数: 0 引用数: 0 h-index: 0机构: Matern & Children Hosp, Dept Pediat, Buraydah, Saudi Arabia King Saud Univ, Coll Med, Dept Ophthalmol, Riyadh 11461, Saudi ArabiaBeeson, David论文数: 0 引用数: 0 h-index: 0机构: John Radcliffe Hosp, Weatherall Inst Mol Med, Oxford OX3 9DU, England King Saud Univ, Coll Med, Dept Ophthalmol, Riyadh 11461, Saudi ArabiaAbu-Amero, Khaled K.论文数: 0 引用数: 0 h-index: 0机构: King Saud Univ, Coll Med, Dept Ophthalmol, Riyadh 11461, Saudi Arabia King Saud Univ, Coll Med, Dept Ophthalmol, Riyadh 11461, Saudi ArabiaBosley, Thomas M.论文数: 0 引用数: 0 h-index: 0机构: King Saud Univ, Coll Med, Dept Ophthalmol, Riyadh 11461, Saudi Arabia Cooper Univ Hosp, Div Neurol, Camden, NJ USA King Saud Univ, Coll Med, Dept Ophthalmol, Riyadh 11461, Saudi Arabia
- [10] Pyrostigmine therapy in a patient with VAMP1-related congenital myasthenic syndrome[J]. NEUROMUSCULAR DISORDERS, 2020, 30 (07) : 611 - 615Al-Muhaizea, Mohammad A.论文数: 0 引用数: 0 h-index: 0机构: KFSHRC, Dept Neurosci, Riyadh, Saudi Arabia Al Faisal Univ, Coll Med, Riyadh, Saudi Arabia KFSHRC, Dept Neurosci, Riyadh, Saudi ArabiaAlQuait, Laila论文数: 0 引用数: 0 h-index: 0机构: KFSHRC, Dept Genet, Cognit Genet Unit, Riyadh 11211, Saudi Arabia KFSHRC, Dept Neurosci, Riyadh, Saudi ArabiaAlRasheed, Afnan论文数: 0 引用数: 0 h-index: 0机构: KFSHRC, Dept Genet, Cognit Genet Unit, Riyadh 11211, Saudi Arabia King Saud Univ, Coll Pharm, Dept Clin Pharm, Riyadh, Saudi Arabia KFSHRC, Dept Neurosci, Riyadh, Saudi ArabiaAlHarbi, Shoug论文数: 0 引用数: 0 h-index: 0机构: KFSHRC, Dept Genet, Cognit Genet Unit, Riyadh 11211, Saudi Arabia King Saud Univ, Coll Pharm, Dept Clin Pharm, Riyadh, Saudi Arabia KFSHRC, Dept Neurosci, Riyadh, Saudi ArabiaAlbader, Anoud Abdulmalik论文数: 0 引用数: 0 h-index: 0机构: KFSHRC, Dept Genet, Cognit Genet Unit, Riyadh 11211, Saudi Arabia KFSHRC, Dept Neurosci, Riyadh, Saudi ArabiaAlMass, Rawan论文数: 0 引用数: 0 h-index: 0机构: KFSHRC, Dept Genet, Cognit Genet Unit, Riyadh 11211, Saudi Arabia KFSHRC, Dept Neurosci, Riyadh, Saudi ArabiaAlbakheet, Albandary论文数: 0 引用数: 0 h-index: 0机构: KFSHRC, Dept Genet, Cognit Genet Unit, Riyadh 11211, Saudi Arabia KFSHRC, Dept Neurosci, Riyadh, Saudi ArabiaAlhumaidan, Abdullah论文数: 0 引用数: 0 h-index: 0机构: KFSHRC, Dept Genet, Cognit Genet Unit, Riyadh 11211, Saudi Arabia KFSHRC, Dept Neurosci, Riyadh, Saudi ArabiaAlRasheed, Maha M.论文数: 0 引用数: 0 h-index: 0机构: King Saud Univ, Coll Pharm, Dept Clin Pharm, Riyadh, Saudi Arabia KFSHRC, Dept Neurosci, Riyadh, Saudi ArabiaColak, Dilek论文数: 0 引用数: 0 h-index: 0机构: KFSHRC, Dept Biost & Sci Comp, Riyadh, Saudi Arabia KFSHRC, Dept Neurosci, Riyadh, Saudi ArabiaKaya, Namik论文数: 0 引用数: 0 h-index: 0机构: KFSHRC, Dept Genet, Cognit Genet Unit, Riyadh 11211, Saudi Arabia KFSHRC, Dept Neurosci, Riyadh, Saudi Arabia