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- [1] Clinical spectrum of BICD2 mutationsEUROPEAN JOURNAL OF NEUROLOGY, 2020, 27 (07) : 1327 - 1335Frasquet, M.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ & Politecn La Fe, Neurol Dept, Neuromuscular Dis Unit, Valencia, Spain Inst Invest Sanitaria La Fe, Neuromuscular & Ataxias Res Grp, Valencia, Spain CIPF IISLa Fe, Joint Unit Res Rare Dis, Valencia, Spain Hosp Univ & Politecn La Fe, Neurol Dept, Neuromuscular Dis Unit, Valencia, SpainCamacho, A.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ 12 Octubre, Div Child Neurol, Madrid, Spain Univ Complutense Madrid, Fac Med, Madrid, Spain Hosp Univ & Politecn La Fe, Neurol Dept, Neuromuscular Dis Unit, Valencia, SpainVilchez, R.论文数: 0 引用数: 0 h-index: 0机构: Inst Invest Sanitaria La Fe, Neuromuscular & Ataxias Res Grp, Valencia, Spain Hosp Univ & Politecn La Fe, Neurol Dept, Neuromuscular Dis Unit, Valencia, SpainArgente-Escrig, H.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ & Politecn La Fe, Neurol Dept, Neuromuscular Dis Unit, Valencia, Spain Inst Invest Sanitaria La Fe, Neuromuscular & Ataxias Res Grp, Valencia, Spain CIPF IISLa Fe, Joint Unit Res Rare Dis, Valencia, Spain Ctr Invest Biomed Red Enfermedades Raras CIBERER, Valencia, Spain Hosp Univ & Politecn La Fe, Neurol Dept, Neuromuscular Dis Unit, Valencia, SpainMillet, E.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ & Politecn La Fe, Dept Clin Neurophysiol, Valencia, Spain Hosp Univ & Politecn La Fe, Neurol Dept, Neuromuscular Dis Unit, Valencia, SpainVazquez-Costa, J. F.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ & Politecn La Fe, Neurol Dept, Neuromuscular Dis Unit, Valencia, Spain Inst Invest Sanitaria La Fe, Neuromuscular & Ataxias Res Grp, Valencia, Spain CIPF IISLa Fe, Joint Unit Res Rare Dis, Valencia, Spain Ctr Invest Biomed Red Enfermedades Raras CIBERER, Valencia, Spain Univ Valencia, Dept Med, Valencia, Spain Hosp Univ & Politecn La Fe, Neurol Dept, Neuromuscular Dis Unit, Valencia, SpainSilla, R.论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Univ, Neurol Dept, Valencia, Spain Hosp Univ & Politecn La Fe, Neurol Dept, Neuromuscular Dis Unit, Valencia, SpainSanchez-Monteagudo, A.论文数: 0 引用数: 0 h-index: 0机构: CIPF IISLa Fe, Joint Unit Res Rare Dis, Valencia, Spain Ctr Invest Principe Felipe CIPF, Serv Genom & Translat Genet, Valencia, Spain Hosp Univ & Politecn La Fe, Neurol Dept, Neuromuscular Dis Unit, Valencia, SpainVilchez, J. J.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ & Politecn La Fe, Neurol Dept, Neuromuscular Dis Unit, Valencia, Spain Inst Invest Sanitaria La Fe, Neuromuscular & Ataxias Res Grp, Valencia, Spain CIPF IISLa Fe, Joint Unit Res Rare Dis, Valencia, Spain Ctr Invest Biomed Red Enfermedades Raras CIBERER, Valencia, Spain Hosp Univ & Politecn La Fe, Neurol Dept, Neuromuscular Dis Unit, Valencia, SpainEspinos, C.论文数: 0 引用数: 0 h-index: 0机构: CIPF IISLa Fe, Joint Unit Res Rare Dis, Valencia, Spain Ctr Invest Principe Felipe CIPF, Serv Genom & Translat Genet, Valencia, Spain Unit Genet & Genom Neuromuscular & Neurodegenerat, Valencia, Spain Univ Valencia, Dept Genet, Valencia, Spain Hosp Univ & Politecn La Fe, Neurol Dept, Neuromuscular Dis Unit, Valencia, SpainLupo, V论文数: 0 引用数: 0 h-index: 0机构: CIPF IISLa Fe, Joint Unit Res Rare Dis, Valencia, Spain Ctr Invest Principe Felipe CIPF, Serv Genom & Translat Genet, Valencia, Spain Unit Genet & Genom Neuromuscular & Neurodegenerat, Valencia, Spain Hosp Univ & Politecn La Fe, Neurol Dept, Neuromuscular Dis Unit, Valencia, SpainSevilla, T.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ & Politecn La Fe, Neurol Dept, Neuromuscular Dis Unit, Valencia, Spain Inst Invest Sanitaria La Fe, Neuromuscular & Ataxias Res Grp, Valencia, Spain CIPF IISLa Fe, Joint Unit Res Rare Dis, Valencia, Spain Ctr Invest Biomed Red Enfermedades Raras CIBERER, Valencia, Spain Univ Valencia, Dept Med, Valencia, Spain Hosp Univ & Politecn La Fe, Neurol Dept, Neuromuscular Dis Unit, Valencia, Spain
- [2] Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2BRAIN, 2015, 138 : 293 - 310Rossor, Alexander M.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London WC1N 3BG, England UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London WC1N 3BG, EnglandOates, Emily C.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Westmead, NSW 2145, Australia Univ Sydney, Fac Med, Discipline Paediat & Child Hlth, Sydney, NSW 2006, Australia UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London WC1N 3BG, EnglandSalter, Hannah K.论文数: 0 引用数: 0 h-index: 0机构: MRC Lab Mol Biol, Div Cell Biol, Cambridge CB2 0QH, England UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London WC1N 3BG, EnglandLiu, Yang论文数: 0 引用数: 0 h-index: 0机构: MRC Lab Mol Biol, Div Cell Biol, Cambridge CB2 0QH, England UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London WC1N 3BG, EnglandMurphy, Sinead M.论文数: 0 引用数: 0 h-index: 0机构: Adelaide & Meath Hosp Inc Natl Children Hosp, Dept Neurol, Dublin, Ireland UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London WC1N 3BG, EnglandSchule, Rebecca论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Hertie Inst Clin Brain Res, Tubingen, Germany Univ Tubingen, Ctr Neurol, Dept Neurodegenerat Dis, Tubingen, Germany German Res Ctr Neurodegenerat Dis DZNE, Tubingen, Germany Univ Miami, Miller Sch Med, Dr John T Macdonald Fdn Dept Human Genet, Miami, FL 33136 USA Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USA UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London WC1N 3BG, EnglandGonzalez, Michael A.论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, Dr John T Macdonald Fdn Dept Human Genet, Miami, FL 33136 USA Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USA UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London WC1N 3BG, EnglandScoto, Mariacristina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 Neurol, MRC Ctr Neuromuscular Dis, London WC1N 3BG, EnglandPhadke, Rahul论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London WC1N 3BG, England UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London WC1N 3BG, EnglandSewry, Caroline A.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 Neurol, MRC Ctr Neuromuscular Dis, London WC1N 3BG, EnglandHoulden, Henry论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London WC1N 3BG, England UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London WC1N 3BG, England论文数: 引用数: h-index:机构:Tournev, Iyailo论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Dept Neurol, Sofia 1000, Bulgaria New Bulgarian Univ, Dept Cognit Sci & Psychol, Sofia, Bulgaria UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London WC1N 3BG, EnglandChamova, Teodora论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Dept Neurol, Sofia 1000, Bulgaria UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London WC1N 3BG, EnglandLitvinenko, Ivan论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Dept Paediat, Clin Child Neurol, Sofia 1000, Bulgaria UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London WC1N 3BG, EnglandZuchner, Stephan论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, Dr John T Macdonald Fdn Dept Human Genet, Miami, FL 33136 USA Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USA UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London WC1N 3BG, EnglandHerrmann, David N.论文数: 0 引用数: 0 h-index: 0机构: Univ Rochester, Med Ctr, Dept Neurol, Rochester, NY 14642 USA Univ Rochester, Med Ctr, Dept Pathol, Rochester, NY 14642 USA UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London WC1N 3BG, EnglandBlake, Julian论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, Natl Hosp Neurol & Neurosurg, Dept Clin Neurophysiol, London, England UCL Inst Neurol, Dept Mol Neurosci, London, England Norfolk & Norwich Univ, Dept Clin Neurophysiol, Norwich, Norfolk, England UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London WC1N 3BG, EnglandSowden, Janet E.论文数: 0 引用数: 0 h-index: 0机构: Univ Rochester, Med Ctr, Dept Neurol, Rochester, NY 14642 USA UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London WC1N 3BG, EnglandAcsadi, Gyuda论文数: 0 引用数: 0 h-index: 0机构: Connecticut Childrens Med Ctr, Dept Neurol, Hartford, CT 06106 USA UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London WC1N 3BG, EnglandRodriguez, Michael L.论文数: 0 引用数: 0 h-index: 0机构: Sydney Local Hlth Dist, Dept Forens Med, Glebe, NSW 2037, Australia Univ Sydney, Sydney Med Sch, Discipline Pathol, Sydney, NSW 2006, Australia UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London WC1N 3BG, EnglandMenezes, Manoj P.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Westmead, NSW 2145, Australia Univ Sydney, Fac Med, Discipline Paediat & Child Hlth, Sydney, NSW 2006, Australia UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London WC1N 3BG, EnglandClarke, Nigel F.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Westmead, NSW 2145, Australia Univ Sydney, Fac Med, Discipline Paediat & Child Hlth, Sydney, NSW 2006, Australia UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London WC1N 3BG, EnglandGrumbach, Michaela Auer论文数: 0 引用数: 0 h-index: 0机构: Med Univ Vienna, Div Orthopaed, A-1090 Vienna, Austria UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London WC1N 3BG, EnglandBullock, Simon L.论文数: 0 引用数: 0 h-index: 0机构: MRC Lab Mol Biol, Div Cell Biol, Cambridge CB2 0QH, England UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London WC1N 3BG, EnglandMuntoni, Francesco论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London WC1N 3BG, England UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London WC1N 3BG, EnglandReilly, Mary M.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London WC1N 3BG, England UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London WC1N 3BG, EnglandNorth, Kathryn N.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Westmead, NSW 2145, Australia Univ Sydney, Fac Med, Discipline Paediat & Child Hlth, Sydney, NSW 2006, Australia Royal Childrens Hosp, Murdoch Childrens Res Inst, Parkville, Vic 3052, Australia Univ Melbourne, Dept Paediat, Parkville, Vic 3010, Australia UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London WC1N 3BG, England
- [3] Autosomal-dominant spinal muscular atrophy due to mutations in BICD2 gene in Bulgarian patientsNEUROMUSCULAR DISORDERS, 2014, 24 (9-10) : 888 - 888Peeters, K.论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp VIB, Dept Mol Genet, Mol Neurogen Grp, B-2610 Antwerp, Belgium Univ Antwerp VIB, Dept Mol Genet, Mol Neurogen Grp, B-2610 Antwerp, BelgiumLitvinenko, I.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Clin Child Neurol, Sofia, Bulgaria Univ Antwerp VIB, Dept Mol Genet, Mol Neurogen Grp, B-2610 Antwerp, Belgium论文数: 引用数: h-index:机构:Asselbergh, B.论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Neurogenet Lab, Inst Born Bunge, B-2020 Antwerp, Belgium Univ Antwerp VIB, Dept Mol Genet, Mol Neurogen Grp, B-2610 Antwerp, BelgiumAlmeida-Souza, L.论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Neurogenet Lab, Inst Born Bunge, B-2020 Antwerp, Belgium Univ Antwerp VIB, Dept Mol Genet, Mol Neurogen Grp, B-2610 Antwerp, BelgiumGeuens, T.论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Neurogenet Lab, Inst Born Bunge, B-2020 Antwerp, Belgium Univ Antwerp VIB, Dept Mol Genet, Mol Neurogen Grp, B-2610 Antwerp, BelgiumYdens, E.论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Neurogenet Lab, Inst Born Bunge, B-2020 Antwerp, Belgium Univ Antwerp VIB, Dept Mol Genet, Mol Neurogen Grp, B-2610 Antwerp, BelgiumZimon, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Neurogenet Lab, Inst Born Bunge, B-2020 Antwerp, Belgium Univ Antwerp VIB, Dept Mol Genet, Mol Neurogen Grp, B-2610 Antwerp, BelgiumIrobi, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp VIB, Dept Mol Genet, Centralized Serv Facil, B-2610 Antwerp, Belgium Univ Antwerp VIB, Dept Mol Genet, Mol Neurogen Grp, B-2610 Antwerp, BelgiumDe Vriendt, E.论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp VIB, Dept Mol Genet, Mol Neurogen Grp, B-2610 Antwerp, Belgium Univ Antwerp VIB, Dept Mol Genet, Mol Neurogen Grp, B-2610 Antwerp, BelgiumDe Winter, V.论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Neurogenet Lab, Inst Born Bunge, B-2020 Antwerp, Belgium Univ Antwerp VIB, Dept Mol Genet, Mol Neurogen Grp, B-2610 Antwerp, BelgiumOoms, T.论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Neurogenet Lab, Inst Born Bunge, B-2020 Antwerp, Belgium Univ Antwerp VIB, Dept Mol Genet, Mol Neurogen Grp, B-2610 Antwerp, BelgiumTimmerman, V.论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Neurogenet Lab, Inst Born Bunge, B-2020 Antwerp, Belgium Univ Antwerp VIB, Dept Mol Genet, Mol Neurogen Grp, B-2610 Antwerp, BelgiumTournev, I.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Sofia, Univ Hosp Alexandrovska, Sofia, Bulgaria Univ Antwerp VIB, Dept Mol Genet, Mol Neurogen Grp, B-2610 Antwerp, BelgiumJordanova, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Neurogenet Lab, Inst Born Bunge, B-2020 Antwerp, Belgium Univ Antwerp VIB, Dept Mol Genet, Mol Neurogen Grp, B-2610 Antwerp, Belgium
- [4] Expanding the phenotype of BICD2 mutations toward skeletal muscle involvementNEUROLOGY, 2016, 87 (21) : 2235 - 2243Unger, Andreas论文数: 0 引用数: 0 h-index: 0机构: Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Dept Cardiovasc Physiol, Bochum, Germany Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Ctr Rare Dis Ruhr, Bochum, Germany Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Dept Cardiovasc Physiol, Bochum, GermanyDekomien, Gabriele论文数: 0 引用数: 0 h-index: 0机构: Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Ctr Rare Dis Ruhr, Bochum, Germany Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Dept Human Genet, Bochum, Germany Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Dept Cardiovasc Physiol, Bochum, GermanyGuettsches, Anne论文数: 0 引用数: 0 h-index: 0机构: Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Ctr Rare Dis Ruhr, Bochum, Germany Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Dept Neurol, Heimer Inst Muscle Res, Bochum, Germany Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Dept Cardiovasc Physiol, Bochum, GermanyDreps, Thomas论文数: 0 引用数: 0 h-index: 0机构: Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Dept Cardiovasc Physiol, Bochum, Germany Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Ctr Rare Dis Ruhr, Bochum, Germany Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Dept Cardiovasc Physiol, Bochum, GermanyKley, Rudolf论文数: 0 引用数: 0 h-index: 0机构: Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Ctr Rare Dis Ruhr, Bochum, Germany Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Dept Neurol, Heimer Inst Muscle Res, Bochum, Germany Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Dept Cardiovasc Physiol, Bochum, GermanyTegenthoff, Martin论文数: 0 引用数: 0 h-index: 0机构: Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Ctr Rare Dis Ruhr, Bochum, Germany Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Dept Neurol, Heimer Inst Muscle Res, Bochum, Germany Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Dept Cardiovasc Physiol, Bochum, GermanyFerbert, Andreas论文数: 0 引用数: 0 h-index: 0机构: Klinikum Kassel, Kassel Med Sch, Kassel, Germany Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Dept Cardiovasc Physiol, Bochum, GermanyWeis, Joachim论文数: 0 引用数: 0 h-index: 0机构: RWTH Univ Hosp Aachen, Inst Neuropathol, Aachen, Germany Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Dept Cardiovasc Physiol, Bochum, GermanyHeyer, Christoph论文数: 0 引用数: 0 h-index: 0机构: Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Ctr Rare Dis Ruhr, Bochum, Germany Ruhr Univ Bochum, Katholisches Klinikum Bochum, Inst Pediat Radiol, Bochum, Germany Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Dept Cardiovasc Physiol, Bochum, GermanyLinke, Wolfgang A.论文数: 0 引用数: 0 h-index: 0机构: Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Dept Cardiovasc Physiol, Bochum, Germany Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Ctr Rare Dis Ruhr, Bochum, Germany Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Dept Cardiovasc Physiol, Bochum, GermanyMartinez-Carrera, Lilian论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Ctr Mol Med, Inst Human Genet, Cologne, Germany Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Dept Cardiovasc Physiol, Bochum, GermanyStorbeck, Markus论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Ctr Mol Med, Inst Human Genet, Cologne, Germany Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Dept Cardiovasc Physiol, Bochum, GermanyWirth, Brunhilde论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Ctr Mol Med, Inst Human Genet, Cologne, Germany Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Dept Cardiovasc Physiol, Bochum, GermanyHoffjan, Sabine论文数: 0 引用数: 0 h-index: 0机构: Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Ctr Rare Dis Ruhr, Bochum, Germany Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Dept Human Genet, Bochum, Germany Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Dept Cardiovasc Physiol, Bochum, GermanyVorgerd, Matthias论文数: 0 引用数: 0 h-index: 0机构: Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Ctr Rare Dis Ruhr, Bochum, Germany Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Dept Neurol, Heimer Inst Muscle Res, Bochum, Germany Ruhr Univ Bochum, Univ Hosp Bergmannsheil, Dept Cardiovasc Physiol, Bochum, Germany
- [5] A Quantitative Model for BicD2/Cargo InteractionsBIOCHEMISTRY, 2018, 57 (46) : 6538 - 6550Noell, Crystal R.论文数: 0 引用数: 0 h-index: 0机构: SUNY Binghamton, Dept Chem, Binghamton, NY 13902 USA SUNY Binghamton, Dept Chem, Binghamton, NY 13902 USALoftus, Kyle M.论文数: 0 引用数: 0 h-index: 0机构: SUNY Binghamton, Dept Chem, Binghamton, NY 13902 USA SUNY Binghamton, Dept Chem, Binghamton, NY 13902 USACui, Heying论文数: 0 引用数: 0 h-index: 0机构: SUNY Binghamton, Dept Chem, Binghamton, NY 13902 USA SUNY Binghamton, Dept Chem, Binghamton, NY 13902 USAGrewer, Christof论文数: 0 引用数: 0 h-index: 0机构: SUNY Binghamton, Dept Chem, Binghamton, NY 13902 USA SUNY Binghamton, Dept Chem, Binghamton, NY 13902 USAKizer, Megan论文数: 0 引用数: 0 h-index: 0机构: SUNY Binghamton, Dept Chem, Binghamton, NY 13902 USA SUNY Binghamton, Dept Chem, Binghamton, NY 13902 USADebler, Erik W.论文数: 0 引用数: 0 h-index: 0机构: Thomas Jefferson Univ, Dept Biochem & Mol Biol, Philadelphia, PA 19107 USA SUNY Binghamton, Dept Chem, Binghamton, NY 13902 USASolmaz, Sozanne R.论文数: 0 引用数: 0 h-index: 0机构: SUNY Binghamton, Dept Chem, Binghamton, NY 13902 USA SUNY Binghamton, Dept Chem, Binghamton, NY 13902 USA
- [6] Muscular BICD2 Syndrome is detectedHERZ, 2018, 43 (07) : 627 - 627不详论文数: 0 引用数: 0 h-index: 0
- [7] Dominant spinal muscular atrophy due to BICD2: a novel mutation refines the phenotypeJOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2014, 85 (05): : 590 - 592Synofzik, Matthis论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Dept Neurodegenerat Dis, Hertie Inst Clin Brain Res, D-72076 Tubingen, Germany German Res Ctr Neurodegenerat Dis DZNE, Tubingen, Germany Univ Tubingen, Dept Neurodegenerat Dis, Hertie Inst Clin Brain Res, D-72076 Tubingen, GermanyMartinez-Carrera, Lilian A.论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Inst Genet, Inst Human Genet, Cologne, Germany Univ Cologne, Ctr Mol Med, D-50931 Cologne, Germany Univ Tubingen, Dept Neurodegenerat Dis, Hertie Inst Clin Brain Res, D-72076 Tubingen, GermanyLindig, Tobias论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Dept Radiol Diagnost & Intervent Neuroradiol, D-72076 Tubingen, Germany Univ Tubingen, Dept Neurodegenerat Dis, Hertie Inst Clin Brain Res, D-72076 Tubingen, GermanySchoels, Ludger论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Dept Neurodegenerat Dis, Hertie Inst Clin Brain Res, D-72076 Tubingen, Germany German Res Ctr Neurodegenerat Dis DZNE, Tubingen, Germany Univ Tubingen, Dept Neurodegenerat Dis, Hertie Inst Clin Brain Res, D-72076 Tubingen, GermanyWirth, Brunhilde论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Inst Genet, Inst Human Genet, Cologne, Germany Univ Cologne, Ctr Mol Med, D-50931 Cologne, Germany Univ Tubingen, Dept Neurodegenerat Dis, Hertie Inst Clin Brain Res, D-72076 Tubingen, Germany
- [8] Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic ParaplegiaAMERICAN JOURNAL OF HUMAN GENETICS, 2013, 92 (06) : 965 - 973Oates, Emily C.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, Australia Univ Sydney, Fac Med, Discipline Paediat & Child Hlth, Sydney, NSW 2006, Australia Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaRossor, Alexander M.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London WC1N 3BG, England Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaHafezparast, Majid论文数: 0 引用数: 0 h-index: 0机构: Univ Sussex, Sch Life Sci, Brighton BN1 9QG, E Sussex, England Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaGonzalez, Michael论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, Dr John T Macdonald Fdn, Dept Human Genet, Miami, FL 33136 USA Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaSpeziani, Fiorella论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, Dr John T Macdonald Fdn, Dept Human Genet, Miami, FL 33136 USA Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaMacArthur, Daniel G.论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA Broad Inst Harvard & MIT, Boston, MA 02142 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaLek, Monkol论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA Broad Inst Harvard & MIT, Boston, MA 02142 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaCottenie, Ellen论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London WC1N 3BG, England Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaScoto, Mariacristina论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaFoley, A. Reghan论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaHurles, Matthew论文数: 0 引用数: 0 h-index: 0机构: Wellcome Trust Sanger Inst, Hinxton CB10 1SA, England Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaHoulden, Henry论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London WC1N 3BG, England UCL Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England UCL Inst Neurol, Neurogenet Lab, London WC1N 3BG, England Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaGreensmith, Linda论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London WC1N 3BG, England UCL Inst Neurol, Sobell Dept Motor Neurosci & Movement Disorders, London WC1N 3BG, England Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaAuer-Grumbach, Michaela论文数: 0 引用数: 0 h-index: 0机构: Med Univ Vienna, Div Orthopaed, A-1090 Vienna, Austria Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaPieber, Thomas R.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Graz, Div Endocrinol & Metab, Dept Internal Med, A-8036 Graz, Austria Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaStrom, Tim M.论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany Tech Univ Munich, Inst Human Genet, D-85748 Garching, Germany Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaSchule, Rebecca论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Hertie Inst Clin Brain Res, D-72074 Tubingen, Germany Univ Tubingen, Ctr Neurol, Dept Neurodegenerat Dis, D-72074 Tubingen, Germany Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaHerrmann, David N.论文数: 0 引用数: 0 h-index: 0机构: Univ Rochester, Med Ctr, Dept Neurol, Rochester, NY 14642 USA Univ Rochester, Med Ctr, Dept Pathol, Rochester, NY 14642 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaSowden, Janet E.论文数: 0 引用数: 0 h-index: 0机构: Univ Rochester, Med Ctr, Dept Neurol, Rochester, NY 14642 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaAcsadi, Gyula论文数: 0 引用数: 0 h-index: 0机构: Connecticut Childrens Med Ctr, Dept Neurol, Hartford, CT 06106 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaMenezes, Manoj P.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, Australia Univ Sydney, Fac Med, Discipline Paediat & Child Hlth, Sydney, NSW 2006, Australia Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaClarke, Nigel F.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, Australia Univ Sydney, Fac Med, Discipline Paediat & Child Hlth, Sydney, NSW 2006, Australia Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaZuechner, Stephan论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, Dr John T Macdonald Fdn, Dept Human Genet, Miami, FL 33136 USA Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USA Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaMuntoni, 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 Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaNorth, Kathryn N.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, Australia Royal Childrens Hosp, Murdoch Childrens Res Inst, Parkville, Vic 3052, Australia Univ Melbourne, Dept Paediat, Parkville, Vic 3010, Australia Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, AustraliaReilly, Mary M.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London WC1N 3BG, England Childrens Hosp Westmead, Inst Neurosci & Muscle Res, Sydney, NSW 2145, Australia
- [9] CLINICAL AND MAGNETIC RESONANCE IMAGING FEATURES OF THREE NOVEL MUTATIONS IN THE BICD2 GENEJOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2017, 22 (03) : 284 - 284Frasquet, M.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ & Politecn La Fe, Valencia, Spain Inst Invest Sanitaria La Fe, Valencia, Spain Hosp Univ & Politecn La Fe, Valencia, SpainLupo, V论文数: 0 引用数: 0 h-index: 0机构: Ctr Invest Principe Felipe, Valencia, Spain Hosp Univ & Politecn La Fe, Valencia, SpainMas, F.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ & Politecn La Fe, Valencia, Spain ERESA, Valencia, Spain Hosp Univ & Politecn La Fe, Valencia, SpainVilchez, R.论文数: 0 引用数: 0 h-index: 0机构: Inst Invest Sanitaria La Fe, Valencia, Spain Hosp Univ & Politecn La Fe, Valencia, SpainChumillas, M. J.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ & Politecn La Fe, Valencia, Spain Ctr Invest Biomed Enfermedades Raras CIBERER, Valencia, Spain Hosp Univ & Politecn La Fe, Valencia, SpainEspinos, C.论文数: 0 引用数: 0 h-index: 0机构: Ctr Invest Principe Felipe, Valencia, Spain Hosp Univ & Politecn La Fe, Valencia, SpainSevilla, T.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ & Politecn La Fe, Valencia, Spain Ctr Invest Biomed Enfermedades Raras CIBERER, Valencia, Spain Univ Valencia, Dept Med, Valencia, Spain Hosp Univ & Politecn La Fe, Valencia, Spain
- [10] Dominant spinal muscular atrophy is caused by mutations in BICD2, an important golgin proteinFRONTIERS IN NEUROSCIENCE, 2015, 9Martinez-Carrera, Lilian A.论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Inst Genet, Inst Human Genet, Cologne, GermanyWirth, Brunhilde论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Inst Genet, Inst Human Genet, Cologne, Germany Univ Cologne, Inst Genet, Inst Human Genet, Cologne, Germany