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- [1] Autosomal dominant spinal muscular atrophy with lower extremity predominance: A recognizable phenotype of BICD2 mutationsMUSCLE & NERVE, 2016, 54 (03) : 496 - 500Rudnik-Schoeneborn, Sabine论文数: 0 引用数: 0 h-index: 0机构: Uniklin RWTH Aachen, Inst Human Genet, Aachen, Germany Med Univ Innsbruck, Div Human Genet, Peter Mayr Str 1, A-6020 Innsbruck, Austria Uniklin RWTH Aachen, Inst Human Genet, Aachen, GermanyDeden, Florian论文数: 0 引用数: 0 h-index: 0机构: Uniklin RWTH Aachen, Inst Human Genet, Aachen, Germany Uniklin RWTH Aachen, Inst Human Genet, Aachen, GermanyEggermann, Katja论文数: 0 引用数: 0 h-index: 0机构: Uniklin RWTH Aachen, Inst Human Genet, Aachen, Germany Uniklin RWTH Aachen, Inst Human Genet, Aachen, GermanyEggermann, Thomas论文数: 0 引用数: 0 h-index: 0机构: Uniklin RWTH Aachen, Inst Human Genet, Aachen, Germany Uniklin RWTH Aachen, Inst Human Genet, Aachen, GermanyWieczorek, Dagmar论文数: 0 引用数: 0 h-index: 0机构: Univ Essen Gesamthsch, Inst Human Genet, Essen, Germany Uniklin RWTH Aachen, Inst Human Genet, Aachen, GermanySellhaus, Bernd论文数: 0 引用数: 0 h-index: 0机构: Uniklin RWTH Aachen, Inst Neuropathol, Aachen, Germany Uniklin RWTH Aachen, Inst Human Genet, Aachen, GermanyYamoah, Alfred论文数: 0 引用数: 0 h-index: 0机构: Uniklin RWTH Aachen, Inst Neuropathol, Aachen, Germany Uniklin RWTH Aachen, Inst Human Genet, Aachen, GermanyGoswami, Anand论文数: 0 引用数: 0 h-index: 0机构: Uniklin RWTH Aachen, Inst Neuropathol, Aachen, Germany Uniklin RWTH Aachen, Inst Human Genet, Aachen, GermanyClaeys, Kristl G.论文数: 0 引用数: 0 h-index: 0机构: Uniklin RWTH Aachen, Inst Neuropathol, Aachen, Germany Uniklin RWTH Aachen, Dept Neurol, Aachen, Germany Uniklin RWTH Aachen, Inst Human Genet, Aachen, GermanyWeis, Joachim论文数: 0 引用数: 0 h-index: 0机构: Uniklin RWTH Aachen, Inst Neuropathol, Aachen, Germany Uniklin RWTH Aachen, Inst Human Genet, Aachen, GermanyZerres, Klaus论文数: 0 引用数: 0 h-index: 0机构: Uniklin RWTH Aachen, Inst Human Genet, Aachen, Germany Uniklin RWTH Aachen, Inst Human Genet, Aachen, Germany
- [2] Lower Extremity Predominant Spinal Muscular Atrophy Caused by BICD2 Gene MutationANNALS OF NEUROLOGY, 2014, 76 : S233 - S233Acsadi, G.论文数: 0 引用数: 0 h-index: 0Pgemiller, K.论文数: 0 引用数: 0 h-index: 0Ounpuu, S.论文数: 0 引用数: 0 h-index: 0
- [3] A case of severe autosomal dominant spinal muscular atrophy with lower extremity predominance caused by a de novo BICD2 mutationBRAIN & DEVELOPMENT, 2021, 43 (01): : 135 - 139论文数: 引用数: h-index:机构:Suganuma, Takashi论文数: 0 引用数: 0 h-index: 0机构: Hokkaido Univ, Dept Pediat, Grad Sch Med, Kita Ku, North 15 West 7, Sapporo, Hokkaido, Japan Hokkaido Univ, Dept Pediat, Grad Sch Med, Kita Ku, North 15 West 7, Sapporo, Hokkaido, JapanNarumi-Kishimoto, Yoko论文数: 0 引用数: 0 h-index: 0机构: Natl Res Inst Child Hlth & Dev, Med Genome Ctr, Tokyo, Japan Hokkaido Univ, Dept Pediat, Grad Sch Med, Kita Ku, North 15 West 7, Sapporo, Hokkaido, JapanKaname, Tadashi论文数: 0 引用数: 0 h-index: 0机构: Natl Ctr Child Hlth & Dev, Dept Genome Med, Tokyo, Japan Hokkaido Univ, Dept Pediat, Grad Sch Med, Kita Ku, North 15 West 7, Sapporo, Hokkaido, JapanSato, Tomonobu论文数: 0 引用数: 0 h-index: 0机构: Hokkaido Univ, Dept Pediat, Grad Sch Med, Kita Ku, North 15 West 7, Sapporo, Hokkaido, Japan Hokkaido Univ, Dept Pediat, Grad Sch Med, Kita Ku, North 15 West 7, Sapporo, Hokkaido, Japan
- [4] A novel BICD2 mutation of a patient with Spinal Muscular Atrophy Lower Extremity Predominant 2INTRACTABLE & RARE DISEASES RESEARCH, 2021, 10 (02) : 102 - 108Tumurkhuu, Munkhtuya论文数: 0 引用数: 0 h-index: 0机构: Int Univ Hlth & Welf, Sch Med, Dept Mol Biol, 4-3 Kozunomori, Narita, Chiba 2868686, Japan Mongolian Natl Univ Med Sci, Sch Biomed, Dept Genet & Mol Biol, Ulan Bator, Mongolia Int Univ Hlth & Welf, Sch Med, Dept Mol Biol, 4-3 Kozunomori, Narita, Chiba 2868686, JapanBatbuyan, Uranchimeg论文数: 0 引用数: 0 h-index: 0机构: Mongolian Natl Univ Med Sci, Sch Biomed, Dept Genet & Mol Biol, Ulan Bator, Mongolia Int Univ Hlth & Welf, Sch Med, Dept Mol Biol, 4-3 Kozunomori, Narita, Chiba 2868686, JapanYuzawa, Satoru论文数: 0 引用数: 0 h-index: 0机构: Int Univ Hlth & Welf, Sch Med, Dept Biochem, Narita, Chiba, Japan Int Univ Hlth & Welf, Sch Med, Dept Mol Biol, 4-3 Kozunomori, Narita, Chiba 2868686, JapanMunkhsaikhan, Yanjinlkham论文数: 0 引用数: 0 h-index: 0机构: Mongolian Natl Univ Med Sci, Sch Biomed, Dept Genet & Mol Biol, Ulan Bator, Mongolia Int Univ Hlth & Welf, Sch Med, Dept Mol Biol, 4-3 Kozunomori, Narita, Chiba 2868686, JapanBatmunkh, Ganbayar论文数: 0 引用数: 0 h-index: 0机构: Natl Ctr Maternal & Child Hlth, Lab Med Genet, Ulan Bator, Mongolia Int Univ Hlth & Welf, Sch Med, Dept Mol Biol, 4-3 Kozunomori, Narita, Chiba 2868686, JapanNishimura, Wataru论文数: 0 引用数: 0 h-index: 0机构: Int Univ Hlth & Welf, Sch Med, Dept Mol Biol, 4-3 Kozunomori, Narita, Chiba 2868686, Japan Int Univ Hlth & Welf, Sch Med, Dept Mol Biol, 4-3 Kozunomori, Narita, Chiba 2868686, Japan
- [5] A SEVERE SPINAL MUSCULAR ATROPHY PHENOTYPE ASSOCIATED WITH A NOVEL BICD2 MUTATIONJOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2016, 21 (03) : 269 - 269Kichula, E. A.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Neuromuscular Program, Philadelphia, PA USA Childrens Hosp Philadelphia, Neuromuscular Program, Philadelphia, PA USAMedne, L.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Neuromuscular Program, Philadelphia, PA USA Childrens Hosp Philadelphia, Neuromuscular Program, Philadelphia, PA USAZackai, E. H.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Genet, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Neuromuscular Program, Philadelphia, PA USAEstilow, T.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Neuromuscular Program, Philadelphia, PA USA Childrens Hosp Philadelphia, Neuromuscular Program, Philadelphia, PA USAHarding, B.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dept Pathol, Perelman Sch Med, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Neuromuscular Program, Philadelphia, PA USABanwell, B.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Neuromuscular Program, Philadelphia, PA USA Univ Penn, Dept Neurol, Perelman Sch Med, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Neuromuscular Program, Philadelphia, PA USAYum, S. W.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Neuromuscular Program, Philadelphia, PA USA Univ Penn, Dept Neurol, Perelman Sch Med, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Neuromuscular Program, Philadelphia, PA USA
- [6] 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
- [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] Beyond spinal muscular atrophy with lower extremity dominance: cerebellar hypoplasia associated with a novel mutation in BICD2EUROPEAN JOURNAL OF NEUROLOGY, 2016, 23 (04) : e19 - e21Fiorillo, C.论文数: 0 引用数: 0 h-index: 0机构: IRCCS Stella Maris Fdn, Mol Med Neurodegenerat & Neuromuscular Dis Unit, Via Giacinti 2, I-56128 Pisa, Italy IRCCS Stella Maris Fdn, Mol Med Neurodegenerat & Neuromuscular Dis Unit, Via Giacinti 2, I-56128 Pisa, ItalyMoro, F.论文数: 0 引用数: 0 h-index: 0机构: IRCCS Stella Maris Fdn, Mol Med Neurodegenerat & Neuromuscular Dis Unit, Via Giacinti 2, I-56128 Pisa, Italy IRCCS Stella Maris Fdn, Mol Med Neurodegenerat & Neuromuscular Dis Unit, Via Giacinti 2, I-56128 Pisa, ItalyBrisca, G.论文数: 0 引用数: 0 h-index: 0机构: Ist Giannina Gaslini, Ctr Myol & Neurodegenerat Disorders, I-16148 Genoa, Italy IRCCS Stella Maris Fdn, Mol Med Neurodegenerat & Neuromuscular Dis Unit, Via Giacinti 2, I-56128 Pisa, ItalyAccogli, A.论文数: 0 引用数: 0 h-index: 0机构: Ist Giannina Gaslini, Neurosurg Unit, I-16148 Genoa, Italy IRCCS Stella Maris Fdn, Mol Med Neurodegenerat & Neuromuscular Dis Unit, Via Giacinti 2, I-56128 Pisa, ItalyTrucco, F.论文数: 0 引用数: 0 h-index: 0机构: Ist Giannina Gaslini, Paediat Neurol & Muscle Dis Unit, I-16148 Genoa, Italy IRCCS Stella Maris Fdn, Mol Med Neurodegenerat & Neuromuscular Dis Unit, Via Giacinti 2, I-56128 Pisa, ItalyTrovato, R.论文数: 0 引用数: 0 h-index: 0机构: IRCCS Stella Maris Fdn, Mol Med Neurodegenerat & Neuromuscular Dis Unit, Via Giacinti 2, I-56128 Pisa, Italy IRCCS Stella Maris Fdn, Mol Med Neurodegenerat & Neuromuscular Dis Unit, Via Giacinti 2, I-56128 Pisa, ItalyPedemonte, M.论文数: 0 引用数: 0 h-index: 0机构: Ist Giannina Gaslini, Paediat Neurol & Muscle Dis Unit, I-16148 Genoa, Italy IRCCS Stella Maris Fdn, Mol Med Neurodegenerat & Neuromuscular Dis Unit, Via Giacinti 2, I-56128 Pisa, ItalySeverino, M.论文数: 0 引用数: 0 h-index: 0机构: Ist Giannina Gaslini, Paediat Neuroradiol Unit, I-16148 Genoa, Italy IRCCS Stella Maris Fdn, Mol Med Neurodegenerat & Neuromuscular Dis Unit, Via Giacinti 2, I-56128 Pisa, ItalyCatala, M.论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere, Federat Neurol, F-75634 Paris, France UPMC, UMR 7622, Paris, France Univ Paris 06, CNRS, Paris, France IRCCS Stella Maris Fdn, Mol Med Neurodegenerat & Neuromuscular Dis Unit, Via Giacinti 2, I-56128 Pisa, ItalyCapra, V.论文数: 0 引用数: 0 h-index: 0机构: Ist Giannina Gaslini, Neurosurg Unit, I-16148 Genoa, Italy IRCCS Stella Maris Fdn, Mol Med Neurodegenerat & Neuromuscular Dis Unit, Via Giacinti 2, I-56128 Pisa, ItalySantorelli, F. M.论文数: 0 引用数: 0 h-index: 0机构: IRCCS Stella Maris Fdn, Mol Med Neurodegenerat & Neuromuscular Dis Unit, Via Giacinti 2, I-56128 Pisa, Italy IRCCS Stella Maris Fdn, Mol Med Neurodegenerat & Neuromuscular Dis Unit, Via Giacinti 2, I-56128 Pisa, ItalyBruno, C.论文数: 0 引用数: 0 h-index: 0机构: Ist Giannina Gaslini, Ctr Myol & Neurodegenerat Disorders, I-16148 Genoa, Italy IRCCS Stella Maris Fdn, Mol Med Neurodegenerat & Neuromuscular Dis Unit, Via Giacinti 2, I-56128 Pisa, ItalyRossi, A.论文数: 0 引用数: 0 h-index: 0机构: Ist Giannina Gaslini, Paediat Neuroradiol Unit, I-16148 Genoa, Italy IRCCS Stella Maris Fdn, Mol Med Neurodegenerat & Neuromuscular Dis Unit, Via Giacinti 2, I-56128 Pisa, ItalyMinetti, C.论文数: 0 引用数: 0 h-index: 0机构: Ist Giannina Gaslini, Paediat Neurol & Muscle Dis Unit, I-16148 Genoa, Italy IRCCS Stella Maris Fdn, Mol Med Neurodegenerat & Neuromuscular Dis Unit, Via Giacinti 2, I-56128 Pisa, Italy
- [9] 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
- [10] 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