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- [3] The first Italian family with evidence of pyramidal impairment as phenotypic manifestation of Silver syndrome BSCL2 gene mutation[J]. NEUROLOGICAL SCIENCES, 2008, 29 (03) : 189 - 191Cafforio, Gianfranco论文数: 0 引用数: 0 h-index: 0机构: Univ Pisa, S Chiara Hosp, OU Neurol, Dept Neurosci, Pisa, Italy Univ Pisa, S Chiara Hosp, OU Neurol, Dept Neurosci, Pisa, ItalyCalabrese, Rosanna论文数: 0 引用数: 0 h-index: 0机构: Univ Pisa, S Chiara Hosp, OU Neurol, Dept Neurosci, Pisa, Italy Univ Pisa, S Chiara Hosp, OU Neurol, Dept Neurosci, Pisa, ItalyMorelli, Nicola论文数: 0 引用数: 0 h-index: 0机构: Univ Pisa, S Chiara Hosp, OU Neurol, Dept Neurosci, Pisa, Italy Univ Pisa, S Chiara Hosp, OU Neurol, Dept Neurosci, Pisa, ItalyMancuso, Michelangelo论文数: 0 引用数: 0 h-index: 0机构: Univ Pisa, S Chiara Hosp, OU Neurol, Dept Neurosci, Pisa, Italy Univ Pisa, S Chiara Hosp, OU Neurol, Dept Neurosci, Pisa, ItalyPiazza, Selina论文数: 0 引用数: 0 h-index: 0机构: Univ Pisa, S Chiara Hosp, OU Neurol, Dept Neurosci, Pisa, Italy Univ Pisa, S Chiara Hosp, OU Neurol, Dept Neurosci, Pisa, ItalyMartinuzzi, Andrea论文数: 0 引用数: 0 h-index: 0机构: Assoc La Nostra Famiglia, Conegliano, TV, Italy Univ Pisa, S Chiara Hosp, OU Neurol, Dept Neurosci, Pisa, Italy论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:
- [4] Seipin ablation in mice results in severe generalized lipodystrophy[J]. HUMAN MOLECULAR GENETICS, 2011, 20 (15) : 3022 - 3030Cui, Xin论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Hlth Sci Ctr, Minist Educ, Inst Cardiovasc Sci, Beijing 100191, Peoples R China Peking Univ, Hlth Sci Ctr, Minist Educ, Key Lab Mol Cardiovasc Sci, Beijing 100191, Peoples R China Peking Univ, Hlth Sci Ctr, Minist Educ, Inst Cardiovasc Sci, Beijing 100191, Peoples R ChinaWang, Yuhui论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Hlth Sci Ctr, Minist Educ, Inst Cardiovasc Sci, Beijing 100191, Peoples R China Peking Univ, Hlth Sci Ctr, Minist Educ, Key Lab Mol Cardiovasc Sci, Beijing 100191, Peoples R China Peking Univ, Hlth Sci Ctr, Minist Educ, Inst Cardiovasc Sci, Beijing 100191, Peoples R ChinaTang, Yin论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Hlth Sci Ctr, Minist Educ, Inst Cardiovasc Sci, Beijing 100191, Peoples R China Peking Univ, Hlth Sci Ctr, Minist Educ, Key Lab Mol Cardiovasc Sci, Beijing 100191, Peoples R China Peking Univ, Hlth Sci Ctr, Minist Educ, Inst Cardiovasc Sci, Beijing 100191, Peoples R ChinaLiu, Yixiao论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Hlth Sci Ctr, Minist Educ, Inst Cardiovasc Sci, Beijing 100191, Peoples R China Peking Univ, Hlth Sci Ctr, Minist Educ, Key Lab Mol Cardiovasc Sci, Beijing 100191, Peoples R China Peking Univ, Hlth Sci Ctr, Minist Educ, Inst Cardiovasc Sci, Beijing 100191, Peoples R ChinaZhao, Liping论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Biol Sci, Transgen Anim Ctr, Beijing 102206, Peoples R China Peking Univ, Hlth Sci Ctr, Minist Educ, Inst Cardiovasc Sci, Beijing 100191, Peoples R ChinaDeng, Jingna论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Hlth Sci Ctr, Minist Educ, Key Lab Mol Cardiovasc Sci, Beijing 100191, Peoples R China Peking Univ, Hlth Sci Ctr, Minist Educ, Dept Physiol, Beijing 100191, Peoples R China Peking Univ, Hlth Sci Ctr, Minist Educ, Inst Cardiovasc Sci, Beijing 100191, Peoples R ChinaXu, Guoheng论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Hlth Sci Ctr, Minist Educ, Key Lab Mol Cardiovasc Sci, Beijing 100191, Peoples R China Peking Univ, Hlth Sci Ctr, Minist Educ, Dept Physiol, Beijing 100191, Peoples R China Peking Univ, Hlth Sci Ctr, Minist Educ, Inst Cardiovasc Sci, Beijing 100191, Peoples R ChinaPeng, Xingui论文数: 0 引用数: 0 h-index: 0机构: Southeast Univ, Zhong Da Hosp, Dept Radiol, Jiangsu Key Lab Mol Imaging & Funct Imaging, Nanjing, Peoples R China Peking Univ, Hlth Sci Ctr, Minist Educ, Inst Cardiovasc Sci, Beijing 100191, Peoples R ChinaJu, Shenghong论文数: 0 引用数: 0 h-index: 0机构: Southeast Univ, Zhong Da Hosp, Dept Radiol, Jiangsu Key Lab Mol Imaging & Funct Imaging, Nanjing, Peoples R China Peking Univ, Hlth Sci Ctr, Minist Educ, Inst Cardiovasc Sci, Beijing 100191, Peoples R ChinaLiu, George论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Hlth Sci Ctr, Minist Educ, Inst Cardiovasc Sci, Beijing 100191, Peoples R China Peking Univ, Hlth Sci Ctr, Minist Educ, Key Lab Mol Cardiovasc Sci, Beijing 100191, Peoples R China Peking Univ, Hlth Sci Ctr, Minist Educ, Inst Cardiovasc Sci, Beijing 100191, Peoples R ChinaYang, Hongyuan论文数: 0 引用数: 0 h-index: 0机构: Univ New S Wales, Sch Biotechnol & Biomol Sci, Sydney, NSW 2052, Australia Peking Univ, Hlth Sci Ctr, Minist Educ, Inst Cardiovasc Sci, Beijing 100191, Peoples R China
- [5] Gene and phenotype analysis of congenital generalized lipodystrophy in Japanese: A novel homozygous nonsense mutation in seipin gene[J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2004, 89 (05) : 2360 - 2364Ebihara, K论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Med, Dept Med & Clin Sci, Kyoto 6068507, Japan Kyoto Univ, Grad Sch Med, Dept Med & Clin Sci, Kyoto 6068507, JapanKusakabe, T论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Med, Dept Med & Clin Sci, Kyoto 6068507, Japan Kyoto Univ, Grad Sch Med, Dept Med & Clin Sci, Kyoto 6068507, JapanMasuzaki, H论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Med, Dept Med & Clin Sci, Kyoto 6068507, Japan Kyoto Univ, Grad Sch Med, Dept Med & Clin Sci, Kyoto 6068507, JapanKobayashi, N论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Med, Dept Med & Clin Sci, Kyoto 6068507, Japan Kyoto Univ, Grad Sch Med, Dept Med & Clin Sci, Kyoto 6068507, JapanTanaka, T论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Med, Dept Med & Clin Sci, Kyoto 6068507, Japan Kyoto Univ, Grad Sch Med, Dept Med & Clin Sci, Kyoto 6068507, JapanChusho, H论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Med, Dept Med & Clin Sci, Kyoto 6068507, Japan Kyoto Univ, Grad Sch Med, Dept Med & Clin Sci, Kyoto 6068507, JapanMiyanaga, F论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Med, Dept Med & Clin Sci, Kyoto 6068507, Japan Kyoto Univ, Grad Sch Med, Dept Med & Clin Sci, Kyoto 6068507, JapanMiyazawa, T论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Med, Dept Med & Clin Sci, Kyoto 6068507, Japan Kyoto Univ, Grad Sch Med, Dept Med & Clin Sci, Kyoto 6068507, JapanHayashi, T论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Med, Dept Med & Clin Sci, Kyoto 6068507, Japan Kyoto Univ, Grad Sch Med, Dept Med & Clin Sci, Kyoto 6068507, JapanHosoda, K论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Med, Dept Med & Clin Sci, Kyoto 6068507, Japan Kyoto Univ, Grad Sch Med, Dept Med & Clin Sci, Kyoto 6068507, JapanOgawa, Y论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Med, Dept Med & Clin Sci, Kyoto 6068507, Japan Kyoto Univ, Grad Sch Med, Dept Med & Clin Sci, Kyoto 6068507, JapanNakao, K论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Med, Dept Med & Clin Sci, Kyoto 6068507, Japan Kyoto Univ, Grad Sch Med, Dept Med & Clin Sci, Kyoto 6068507, Japan
- [6] Seipin, adipogenesis and lipid droplets[J]. TRENDS IN ENDOCRINOLOGY AND METABOLISM, 2011, 22 (06) : 204 - 210Fei, Weihua论文数: 0 引用数: 0 h-index: 0机构: Univ New S Wales, Sch Biotechnol & Biomol Sci, Sydney, NSW 2052, Australia Univ New S Wales, Sch Biotechnol & Biomol Sci, Sydney, NSW 2052, AustraliaDu, Ximing论文数: 0 引用数: 0 h-index: 0机构: Univ New S Wales, Sch Biotechnol & Biomol Sci, Sydney, NSW 2052, Australia Univ New S Wales, Sch Biotechnol & Biomol Sci, Sydney, NSW 2052, AustraliaYang, Hongyuan论文数: 0 引用数: 0 h-index: 0机构: Univ New S Wales, Sch Biotechnol & Biomol Sci, Sydney, NSW 2052, Australia Univ New S Wales, Sch Biotechnol & Biomol Sci, Sydney, NSW 2052, Australia
- [7] Neuroanatomical Characterisation of the Expression of the Lipodystrophy and Motor-Neuropathy Gene Bscl2 in Adult Mouse Brain[J]. PLOS ONE, 2012, 7 (09):Garfield, Alastair S.论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Dept Pharmacol, Cambridge CB2 1QJ, England Univ Cambridge, Dept Pharmacol, Cambridge CB2 1QJ, EnglandChan, Wai S.论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Dept Pharmacol, Cambridge CB2 1QJ, England Univ Cambridge, Dept Pharmacol, Cambridge CB2 1QJ, EnglandDennis, Rowena J.论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Addenbrookes Hosp, Inst Metab Sci, Metab Res Labs, Cambridge CB2 2QQ, England Univ Cambridge, Dept Pharmacol, Cambridge CB2 1QJ, EnglandIto, Daisuke论文数: 0 引用数: 0 h-index: 0机构: Keio Univ, Sch Med, Dept Neurol, Shinjuku Ku, Tokyo, Japan Univ Cambridge, Dept Pharmacol, Cambridge CB2 1QJ, EnglandHeisler, Lora K.论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Dept Pharmacol, Cambridge CB2 1QJ, England Univ Cambridge, Dept Pharmacol, Cambridge CB2 1QJ, EnglandRochford, Justin J.论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Addenbrookes Hosp, Inst Metab Sci, Metab Res Labs, Cambridge CB2 2QQ, England Univ Cambridge, Dept Pharmacol, Cambridge CB2 1QJ, England
- [8] A new seipin-associated neurodegenerative syndrome[J]. JOURNAL OF MEDICAL GENETICS, 2013, 50 (06) : 401 - 409Guillen-Navarro, Encarna论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Univ Virgen de la Arrixaca, Div Pediat, Unit Med Genet & Dysmorphol, Murcia, Spain Hosp Clin Univ Virgen de la Arrixaca, Div Pediat, Unit Med Genet & Dysmorphol, Murcia, SpainSanchez-Iglesias, Sofia论文数: 0 引用数: 0 h-index: 0机构: Univ Santiago de Compostela, Sch Med, IDIS, Dept Med, Santiago De Compostela 15707, Spain Univ Santiago de Compostela, IDIS, CIMUS Biomed Res Inst, Santiago De Compostela 15707, Spain Hosp Clin Univ Virgen de la Arrixaca, Div Pediat, Unit Med Genet & Dysmorphol, Murcia, SpainDomingo-Jimenez, Rosario论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Univ Virgen de la Arrixaca, Div Pediat, Sect Neuropediat, Murcia, Spain Hosp Clin Univ Virgen de la Arrixaca, Div Pediat, Unit Med Genet & Dysmorphol, Murcia, SpainVictoria, Berta论文数: 0 引用数: 0 h-index: 0机构: Univ Santiago de Compostela, Sch Med, IDIS, Dept Med, Santiago De Compostela 15707, Spain Univ Santiago de Compostela, IDIS, CIMUS Biomed Res Inst, Santiago De Compostela 15707, Spain Hosp Clin Univ Virgen de la Arrixaca, Div Pediat, Unit Med Genet & Dysmorphol, Murcia, SpainRuiz-Riquelme, Alejandro论文数: 0 引用数: 0 h-index: 0机构: Univ Santiago de Compostela, Sch Med, IDIS, Dept Med, Santiago De Compostela 15707, Spain Univ Santiago de Compostela, IDIS, CIMUS Biomed Res Inst, Santiago De Compostela 15707, Spain Hosp Clin Univ Virgen de la Arrixaca, Div Pediat, Unit Med Genet & Dysmorphol, Murcia, SpainRabano, Alberto论文数: 0 引用数: 0 h-index: 0机构: Fdn CIEN, Dept Neuropathol, Madrid, Spain Fdn CIEN, Tissue Bank, Madrid, Spain Hosp Clin Univ Virgen de la Arrixaca, Div Pediat, Unit Med Genet & Dysmorphol, Murcia, SpainLoidi, Lourdes论文数: 0 引用数: 0 h-index: 0机构: Fdn Galega Med Xenom, Santiago De Compostela, Spain Hosp Clin Univ Virgen de la Arrixaca, Div Pediat, Unit Med Genet & Dysmorphol, Murcia, SpainBeiras, Andres论文数: 0 引用数: 0 h-index: 0机构: Univ Santiago de Compostela, Sch Med, Dept Pathol, Santiago De Compostela 15707, Spain Hosp Clin Univ Virgen de la Arrixaca, Div Pediat, Unit Med Genet & Dysmorphol, Murcia, SpainGonzalez-Mendez, Blanca论文数: 0 引用数: 0 h-index: 0机构: Univ Santiago de Compostela, Sch Med, IDIS, Dept Med, Santiago De Compostela 15707, Spain Univ Santiago de Compostela, IDIS, CIMUS Biomed Res Inst, Santiago De Compostela 15707, Spain Hosp Clin Univ Virgen de la Arrixaca, Div Pediat, Unit Med Genet & Dysmorphol, Murcia, SpainRamos, Adriana论文数: 0 引用数: 0 h-index: 0机构: Univ Santiago de Compostela, Sch Med, IDIS, Dept Med, Santiago De Compostela 15707, Spain Univ Santiago de Compostela, IDIS, CIMUS Biomed Res Inst, Santiago De Compostela 15707, Spain Hosp Clin Univ Virgen de la Arrixaca, Div Pediat, Unit Med Genet & Dysmorphol, Murcia, SpainLopez-Gonzalez, Vanesa论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Univ Virgen de la Arrixaca, Div Pediat, Unit Med Genet & Dysmorphol, Murcia, Spain Hosp Clin Univ Virgen de la Arrixaca, Div Pediat, Unit Med Genet & Dysmorphol, Murcia, SpainJuliana Ballesta-Martinez, Maria论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Univ Virgen de la Arrixaca, Div Pediat, Unit Med Genet & Dysmorphol, Murcia, Spain Hosp Clin Univ Virgen de la Arrixaca, Div Pediat, Unit Med Genet & Dysmorphol, Murcia, SpainGarrido-Pumar, Miguel论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Univ Santiago de Compostela, Div Nucl Med, Santiago De Compostela, Spain Hosp Clin Univ Virgen de la Arrixaca, Div Pediat, Unit Med Genet & Dysmorphol, Murcia, SpainAguiar, Pablo论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Univ Santiago de Compostela, Div Nucl Med, Santiago De Compostela, Spain Hosp Clin Univ Virgen de la Arrixaca, Div Pediat, Unit Med Genet & Dysmorphol, Murcia, SpainRuibal, Alvaro论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Univ Santiago de Compostela, Div Nucl Med, Santiago De Compostela, Spain Hosp Clin Univ Virgen de la Arrixaca, Div Pediat, Unit Med Genet & Dysmorphol, Murcia, SpainRequena, Jesus R.论文数: 0 引用数: 0 h-index: 0机构: Univ Santiago de Compostela, Sch Med, IDIS, Dept Med, Santiago De Compostela 15707, Spain Univ Santiago de Compostela, IDIS, CIMUS Biomed Res Inst, Santiago De Compostela 15707, Spain Hosp Clin Univ Virgen de la Arrixaca, Div Pediat, Unit Med Genet & Dysmorphol, Murcia, SpainAraujo-Vilar, David论文数: 0 引用数: 0 h-index: 0机构: Univ Santiago de Compostela, Sch Med, IDIS, Dept Med, Santiago De Compostela 15707, Spain Univ Santiago de Compostela, IDIS, CIMUS Biomed Res Inst, Santiago De Compostela 15707, Spain Hosp Clin Univ Virgen de la Arrixaca, Div Pediat, Unit Med Genet & Dysmorphol, Murcia, Spain
- [9] Motor neuron degeneration in a mouse model of seipinopathy[J]. CELL DEATH & DISEASE, 2013, 4 : e535 - e535Guo, J.论文数: 0 引用数: 0 h-index: 0机构: ASTAR, Lab Metab Med, Singapore Bioimaging Consortium, Singapore, Singapore Natl Univ Singapore, Dept Anat, Singapore 117548, Singapore ASTAR, Lab Metab Med, Singapore Bioimaging Consortium, Singapore, SingaporeQiu, W.论文数: 0 引用数: 0 h-index: 0机构: ASTAR, Lab Metab Med, Singapore Bioimaging Consortium, Singapore, Singapore ASTAR, Lab Metab Med, Singapore Bioimaging Consortium, Singapore, SingaporeSoh, S. L. Y.论文数: 0 引用数: 0 h-index: 0机构: ASTAR, Lab Metab Med, Singapore Bioimaging Consortium, Singapore, Singapore ASTAR, Lab Metab Med, Singapore Bioimaging Consortium, Singapore, SingaporeWei, S.论文数: 0 引用数: 0 h-index: 0机构: ASTAR, Lab Metab Med, Singapore Bioimaging Consortium, Singapore, Singapore ASTAR, Lab Metab Med, Singapore Bioimaging Consortium, Singapore, SingaporeRadda, G. K.论文数: 0 引用数: 0 h-index: 0机构: ASTAR, Lab Metab Med, Singapore Bioimaging Consortium, Singapore, Singapore ASTAR, Lab Metab Med, Singapore Bioimaging Consortium, Singapore, SingaporeOng, W-Y论文数: 0 引用数: 0 h-index: 0机构: Natl Univ Singapore, Dept Anat, Singapore 117548, Singapore ASTAR, Lab Metab Med, Singapore Bioimaging Consortium, Singapore, SingaporePang, Z. P.论文数: 0 引用数: 0 h-index: 0机构: Univ Med & Dent New Jersey, Robert Wood Johnson Med Sch, Child Hlth Inst New Jersey, Dept Neurosci & Cell Biol, New Brunswick, NJ 08901 USA ASTAR, Lab Metab Med, Singapore Bioimaging Consortium, Singapore, SingaporeHan, W.论文数: 0 引用数: 0 h-index: 0机构: ASTAR, Lab Metab Med, Singapore Bioimaging Consortium, Singapore, Singapore ASTAR, Inst Mol & Cell Biol, Singapore, Singapore Natl Univ Singapore, Yong Loo Lin Sch Med, Dept Biochem, Singapore 117595, Singapore Duke NUS Grad Med Sch, Program Cardiovasc & Metab Disorders, Singapore, Singapore ASTAR, Lab Metab Med, Singapore Bioimaging Consortium, Singapore, Singapore
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