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- [42] Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2CNATURE GENETICS, 2010, 42 (02) : 170 - U109Landoure, Guida论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Med, London, England UCL, Dept Neurosci Physiol & Pharmacol, London, England NINDS, Neurogenet Branch, NIH, Bethesda, MD 20892 USA Univ Bamako, Serv Neurol, Ctr Hosp Univ Point G, Bamako, Mali Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USAZdebik, Anselm A.论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Med, London, England UCL, Dept Neurosci Physiol & Pharmacol, London, England Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USAMartinez, Tara L.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USA Johns Hopkins Bloomberg Sch Publ Hlth, W Harry Feinstone Dept Mol Microbiol & Immunol, Baltimore, MD USA Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USABurnett, Barrington G.论文数: 0 引用数: 0 h-index: 0机构: NINDS, Neurogenet Branch, NIH, Bethesda, MD 20892 USA Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USAStanescu, Horia C.论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Med, London, England UCL, Dept Neurosci Physiol & Pharmacol, London, England Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USAInada, Hitoshi论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Dept Mol & Cellular Biol, Cambridge, MA 02138 USA Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USAShi, Yijun论文数: 0 引用数: 0 h-index: 0机构: NINDS, Neurogenet Branch, NIH, Bethesda, MD 20892 USA Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USATaye, Addis A.论文数: 0 引用数: 0 h-index: 0机构: NINDS, Neurogenet Branch, NIH, Bethesda, MD 20892 USA Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USAKong, Lingling论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USA Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USAMunns, Clare H.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Dept Biol Chem, Baltimore, MD 21218 USA Johns Hopkins Univ, Dept Neurosci, Ctr Sensory Biol, Baltimore, MD 21218 USA Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USAChoo, Shelly S.论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Dept Mol & Cellular Biol, Cambridge, MA 02138 USA Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USAPhelps, Christopher B.论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Dept Mol & Cellular Biol, Cambridge, MA 02138 USA Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USAPaudel, Reema论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, London, England Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USAHoulden, Henry论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, London, England Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USALudlow, Christy L.论文数: 0 引用数: 0 h-index: 0机构: James Madison Univ, Lab Neural Bases Commun & Swallowing, Harrisonburg, VA 22807 USA Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USACaterina, Michael J.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Dept Biol Chem, Baltimore, MD 21218 USA Johns Hopkins Univ, Dept Neurosci, Ctr Sensory Biol, Baltimore, MD 21218 USA Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USAGaudet, Rachelle论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Dept Mol & Cellular Biol, Cambridge, MA 02138 USA Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USAKleta, Robert论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Med, London, England UCL, Dept Neurosci Physiol & Pharmacol, London, England Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USAFischbeck, Kenneth H.论文数: 0 引用数: 0 h-index: 0机构: NINDS, Neurogenet Branch, NIH, Bethesda, MD 20892 USA Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USASumner, Charlotte J.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USA Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USA
- [43] Charcot-Marie-Tooth diseaseANASTHESIOLOGIE & INTENSIVMEDIZIN, 2016, 57Errando, Carlos论文数: 0 引用数: 0 h-index: 0机构: Consorcio Hosp Gen Univ Valencia, Valencia, Spain Consorcio Hosp Gen Univ Valencia, Valencia, Spain
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- [46] Charcot-Marie-Tooth diseaseROMANIAN JOURNAL OF MORPHOLOGY AND EMBRYOLOGY, 2008, 49 (01): : 115 - 119Buteica, Elena论文数: 0 引用数: 0 h-index: 0机构: Univ Med & Pharm Craiova, Dept Genet, Craiova 200349, Romania Univ Med & Pharm Craiova, Dept Genet, Craiova 200349, RomaniaRosulescu, Eugenia论文数: 0 引用数: 0 h-index: 0机构: Univ Craiova, Dept Kinetotherapy, Craiova, Romania Univ Med & Pharm Craiova, Dept Genet, Craiova 200349, RomaniaStanoiu, B.论文数: 0 引用数: 0 h-index: 0机构: Univ Med & Pharm Craiova, Dept Genet, Craiova 200349, Romania Univ Med & Pharm Craiova, Dept Genet, Craiova 200349, RomaniaBurada, F.论文数: 0 引用数: 0 h-index: 0机构: Univ Med & Pharm Craiova, Dept Genet, Craiova 200349, Romania Univ Med & Pharm Craiova, Dept Genet, Craiova 200349, RomaniaStanoiu, Cosmina论文数: 0 引用数: 0 h-index: 0机构: Dept Social Assistance & Child Protect, Craiova, Romania Univ Med & Pharm Craiova, Dept Genet, Craiova 200349, RomaniaZavaleanu, Mihaela论文数: 0 引用数: 0 h-index: 0机构: Univ Craiova, Dept Kinetotherapy, Craiova, Romania Univ Med & Pharm Craiova, Dept Genet, Craiova 200349, Romania
- [47] MUTATIONS IN BAG3 CAUSE ADULT ONSET CHARCOT-MARIE-TOOTH DISEASEJOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2017, 22 (03) : 281 - 281Feely, S. M. E.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Iowa City, IA USA Univ Iowa, Iowa City, IA USARebelo, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, Dr John T Macdonald Dept Human Genet, Miami, FL 33136 USA Univ Miami, Miller Sch Med, Hussman Inst Human Genet, Miami, FL 33136 USA Univ Iowa, Iowa City, IA USAAbreu, L.论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, Dr John T Macdonald Dept Human Genet, Miami, FL 33136 USA Univ Miami, Miller Sch Med, Hussman Inst Human Genet, Miami, FL 33136 USA Univ Iowa, Iowa City, IA USATao, F.论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, Dr John T Macdonald Dept Human Genet, Miami, FL 33136 USA Univ Miami, Miller Sch Med, Hussman Inst Human Genet, Miami, FL 33136 USA Univ Iowa, Iowa City, IA USABacon, C.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Iowa City, IA USA Univ Iowa, Iowa City, IA USAZuchner, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Miami, Miller Sch Med, Dr John T Macdonald Dept Human Genet, Miami, FL 33136 USA Univ Miami, Miller Sch Med, Hussman Inst Human Genet, Miami, FL 33136 USA Univ Iowa, Iowa City, IA USAShy, M. E.论文数: 0 引用数: 0 h-index: 0机构: Univ Iowa, Iowa City, IA USA Univ Iowa, Iowa City, IA USA
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- [49] Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth diseaseBRAIN, 2016, 139 : 62 - 72Sevilla, Teresa论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ & Politecn La Fe, Dept Neurol, Avd Fernando Abril Martorell 106, Valencia 46026, Spain Ctr Invest Biomed Red Enfermedades Raras CIBERER, C Eduardo Primo Yufera 13, Valencia 46012, Spain Univ Valencia, Dept Med, Avd Blasco Ibanez 15, Valencia, Spain Hosp Univ & Politecn La Fe, Dept Neurol, Avd Fernando Abril Martorell 106, Valencia 46026, SpainLupo, Vincenzo论文数: 0 引用数: 0 h-index: 0机构: Ctr Invest Biomed Red Enfermedades Raras CIBERER, C Eduardo Primo Yufera 13, Valencia 46012, Spain CIPF, Program Rare & Genet Dis, C Eduardo Primo Yufera 13, Valencia 46012, Spain CIPF, IBV CSIC Associated Unit, C Eduardo Primo Yufera 13, Valencia 46012, Spain Hosp Univ & Politecn La Fe, Dept Neurol, Avd Fernando Abril Martorell 106, Valencia 46026, SpainMartinez-Rubio, Dolores论文数: 0 引用数: 0 h-index: 0机构: Ctr Invest Biomed Red Enfermedades Raras CIBERER, C Eduardo Primo Yufera 13, Valencia 46012, Spain CIPF, Program Rare & Genet Dis, C Eduardo Primo Yufera 13, Valencia 46012, Spain CIPF, IBV CSIC Associated Unit, C Eduardo Primo Yufera 13, Valencia 46012, Spain Hosp Univ & Politecn La Fe, Dept Neurol, Avd Fernando Abril Martorell 106, Valencia 46026, SpainSancho, Paula论文数: 0 引用数: 0 h-index: 0机构: Ctr Invest Biomed Red Enfermedades Raras CIBERER, C Eduardo Primo Yufera 13, Valencia 46012, Spain CIPF, Program Rare & Genet Dis, C Eduardo Primo Yufera 13, Valencia 46012, Spain CIPF, IBV CSIC Associated Unit, C Eduardo Primo Yufera 13, Valencia 46012, Spain Hosp Univ & Politecn La Fe, Dept Neurol, Avd Fernando Abril Martorell 106, Valencia 46026, SpainSivera, Rafael论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ & Politecn La Fe, Dept Neurol, Avd Fernando Abril Martorell 106, Valencia 46026, Spain Hosp Univ & Politecn La Fe, Dept Neurol, Avd Fernando Abril Martorell 106, Valencia 46026, SpainChumillas, Maria J.论文数: 0 引用数: 0 h-index: 0机构: Ctr Invest Biomed Red Enfermedades Raras CIBERER, C Eduardo Primo Yufera 13, Valencia 46012, Spain Hosp Univ & Politecn La Fe, Dept Clin Neurophysiol, Avd Fernando Abril Martorell 106, Valencia 46026, Spain Hosp Univ & Politecn La Fe, Dept Neurol, Avd Fernando Abril Martorell 106, Valencia 46026, SpainGarcia-Romero, Mar论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ La Paz, Dept Neuropaediat, P Castellana 261, Madrid 08046, Spain Hosp Univ & Politecn La Fe, Dept Neurol, Avd Fernando Abril Martorell 106, Valencia 46026, SpainPascual-Pascual, Samuel I.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ La Paz, Dept Neuropaediat, P Castellana 261, Madrid 08046, Spain Hosp Univ & Politecn La Fe, Dept Neurol, Avd Fernando Abril Martorell 106, Valencia 46026, SpainMuelas, Nuria论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ & Politecn La Fe, Dept Neurol, Avd Fernando Abril Martorell 106, Valencia 46026, Spain Ctr Invest Biomed Red Enfermedades Raras CIBERER, C Eduardo Primo Yufera 13, Valencia 46012, Spain Hosp Univ & Politecn La Fe, Dept Neurol, Avd Fernando Abril Martorell 106, Valencia 46026, SpainDopazo, Joaquin论文数: 0 引用数: 0 h-index: 0机构: Ctr Invest Biomed Red Enfermedades Raras CIBERER, C Eduardo Primo Yufera 13, Valencia 46012, Spain CIPF, Program Computat Genom, C Eduardo Primo Yufera 13, Valencia 46012, Spain Hosp Univ & Politecn La Fe, Dept Neurol, Avd Fernando Abril Martorell 106, Valencia 46026, SpainVilchez, Juan J.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ & Politecn La Fe, Dept Neurol, Avd Fernando Abril Martorell 106, Valencia 46026, Spain Ctr Invest Biomed Red Enfermedades Raras CIBERER, C Eduardo Primo Yufera 13, Valencia 46012, Spain Univ Valencia, Dept Med, Avd Blasco Ibanez 15, Valencia, Spain Hosp Univ & Politecn La Fe, Dept Neurol, Avd Fernando Abril Martorell 106, Valencia 46026, SpainPalau, Francesc论文数: 0 引用数: 0 h-index: 0机构: Ctr Invest Biomed Red Enfermedades Raras CIBERER, C Eduardo Primo Yufera 13, Valencia 46012, Spain CIPF, Program Rare & Genet Dis, C Eduardo Primo Yufera 13, Valencia 46012, Spain CIPF, IBV CSIC Associated Unit, C Eduardo Primo Yufera 13, Valencia 46012, Spain Hosp St Joan de Deu, Dept Genet & Mol Med, P St Joan de Deu 2, Barcelona 08950, Spain Hosp St Joan de Deu, Pediat Inst Rare Dis IPER, P St Joan de Deu 2, Barcelona 08950, Spain Hosp Univ & Politecn La Fe, Dept Neurol, Avd Fernando Abril Martorell 106, Valencia 46026, SpainEspinos, Carmen论文数: 0 引用数: 0 h-index: 0机构: Ctr Invest Biomed Red Enfermedades Raras CIBERER, C Eduardo Primo Yufera 13, Valencia 46012, Spain CIPF, Program Rare & Genet Dis, C Eduardo Primo Yufera 13, Valencia 46012, Spain CIPF, IBV CSIC Associated Unit, C Eduardo Primo Yufera 13, Valencia 46012, Spain Hosp Univ & Politecn La Fe, Dept Neurol, Avd Fernando Abril Martorell 106, Valencia 46026, Spain
- [50] Mutations in C1orf194, encoding a calcium regulator, cause dominant Charcot-Marie-Tooth diseaseBRAIN, 2019, 142 : 2215 - 2229Sun, Shun-Chang论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Ruijin Hosp North, Dept Clin Lab, Sch Med, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Ruijin Hosp North, Dept Clin Lab, Sch Med, Shanghai, Peoples R ChinaMa, Di论文数: 0 引用数: 0 h-index: 0机构: Southern Med Univ, Sch Basic Med Sci, Dept Med Genet, Guangzhou, Guangdong, Peoples R China Shanghai Jiao Tong Univ, Ruijin Hosp North, Dept Clin Lab, Sch Med, Shanghai, Peoples R ChinaLi, Mei-Yi论文数: 0 引用数: 0 h-index: 0机构: Southern Med Univ, Sch Basic Med Sci, Dept Med Genet, Guangzhou, Guangdong, Peoples R China Shanghai Jiao Tong Univ, Ruijin Hosp North, Dept Clin Lab, Sch Med, Shanghai, Peoples R ChinaZhang, Ru-Xu论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha 410008, Hunan, Peoples R China Shanghai Jiao Tong Univ, Ruijin Hosp North, Dept Clin Lab, Sch Med, 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Neurol, Sch Med, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Ruijin Hosp, Inst Neurol, Sch Med, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Ruijin Hosp North, Dept Clin Lab, Sch Med, Shanghai, Peoples R ChinaCai, De-Cheng论文数: 0 引用数: 0 h-index: 0机构: Southern Med Univ, Sch Basic Med Sci, Dept Med Genet, Guangzhou, Guangdong, Peoples R China Shanghai Jiao Tong Univ, Ruijin Hosp North, Dept Clin Lab, Sch Med, Shanghai, Peoples R ChinaLiu, Cui-Xian论文数: 0 引用数: 0 h-index: 0机构: Southern Med Univ, Sch Basic Med Sci, Dept Med Genet, Guangzhou, Guangdong, Peoples R China Shanghai Jiao Tong Univ, Ruijin Hosp North, Dept Clin Lab, Sch Med, Shanghai, Peoples R ChinaYang, Qi论文数: 0 引用数: 0 h-index: 0机构: Southern Med Univ, Sch Basic Med Sci, Dept Med Genet, Guangzhou, Guangdong, Peoples R China Shanghai Jiao Tong Univ, Ruijin Hosp North, Dept Clin Lab, Sch Med, Shanghai, Peoples R ChinaBao, Fei-Xiang论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci, Key Lab Regenerat Biol, Guangdong Prov Key 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Peoples R China Shanghai Jiao Tong Univ, Ruijin Hosp North, Dept Clin Lab, Sch Med, Shanghai, Peoples R ChinaZhong, Jian-Mei论文数: 0 引用数: 0 h-index: 0机构: Southern Med Univ, Sch Basic Med Sci, Dept Med Genet, Guangzhou, Guangdong, Peoples R China Shanghai Jiao Tong Univ, Ruijin Hosp North, Dept Clin Lab, Sch Med, Shanghai, Peoples R ChinaZhou, Wan-jun论文数: 0 引用数: 0 h-index: 0机构: Southern Med Univ, Sch Basic Med Sci, Dept Med Genet, Guangzhou, Guangdong, Peoples R China Shanghai Jiao Tong Univ, Ruijin Hosp North, Dept Clin Lab, Sch Med, Shanghai, Peoples R ChinaShang, Xuan论文数: 0 引用数: 0 h-index: 0机构: Southern Med Univ, Sch Basic Med Sci, Dept Med Genet, Guangzhou, Guangdong, Peoples R China Shanghai Jiao Tong Univ, Ruijin Hosp North, Dept Clin Lab, Sch Med, Shanghai, Peoples R ChinaZhang, Cheng论文数: 0 引用数: 0 h-index: 0机构: Sun Yat Sen Univ, Affiliated Hosp 1, Dept Neurol, Guangzhou, Guangdong, Peoples R China Shanghai Jiao Tong Univ, Ruijin Hosp North, Dept Clin Lab, Sch Med, Shanghai, Peoples R ChinaLiu, Xing-Guo论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci, Key Lab Regenerat Biol, Guangdong Prov Key Lab Stem Cell & Regenerat Med, South China Inst Stem Cell Biol & Regenerat Med,G, Guangzhou, Guangdong, Peoples R China Shanghai Jiao Tong Univ, Ruijin Hosp North, Dept Clin Lab, Sch Med, Shanghai, Peoples R ChinaTang, Bei-Sha论文数: 0 引用数: 0 h-index: 0机构: Cent S Univ, Xiangya Hosp, Dept Neurol, Changsha 410008, Hunan, Peoples R China Shanghai Jiao Tong Univ, Ruijin Hosp North, Dept Clin Lab, Sch Med, Shanghai, Peoples R ChinaXiong, Fu论文数: 0 引用数: 0 h-index: 0机构: Southern Med Univ, Sch Basic Med Sci, Dept Med Genet, Guangzhou, Guangdong, Peoples R China Guangdong Hong Kong Macao Greater Bay Area Ctr Br, Guangzhou 510515, Guangdong, Peoples R China Guangdong Prov Key Lab Single Cell Technol & Appl, Guangzhou, Guangdong, Peoples R China Shanghai Jiao Tong Univ, Ruijin Hosp North, Dept Clin Lab, Sch Med, Shanghai, Peoples R ChinaXu, Xiang-Min论文数: 0 引用数: 0 h-index: 0机构: Southern Med Univ, Sch Basic Med Sci, Dept Med Genet, Guangzhou, Guangdong, Peoples R China Guangdong Hong Kong Macao Greater Bay Area Ctr Br, Guangzhou 510515, Guangdong, Peoples R China Guangdong Prov Key Lab Single Cell Technol & Appl, Guangzhou, Guangdong, Peoples R China Southern Med Univ, Key Lab Mental Hlth, Minist Educ, Guangdong Hong Kong Macao Greater Bay Area Ctr Br, Guangzhou 510515, Guangdong, Peoples R China Shanghai Jiao Tong Univ, Ruijin Hosp North, Dept Clin Lab, Sch Med, Shanghai, Peoples R China