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Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients

机译：Charcot-Marie-Tooth疾病与髓鞘相关蛋白质突变的脱髓鞘和轴突特征（PMP22，MPZ和CX32）：205例日本患者的临床病理学研究

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N. Hattori; M. Yamamoto; T. Yoshihara; H. Koike; M. Nakagawa; H. Yoshikawa; A. Ohnishi; K. Hayasaka; O. Onodera; M. Baba; H. Yasuda; T. Saito; K. Nakashima; J.-i. Kira; R. Kaji; N. Oka; G. Sobue;
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1. Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients. [J] . Hattori N, Yamamoto M, Yoshihara T, Brain: A journal of neurology . 2003,第Pta1期

机译：伴有髓磷脂相关蛋白（PMP22，MPZ和Cx32）突变的Charcot-Marie-Tooth病的脱髓鞘和轴突特征：对205位日本患者的临床病理研究。
2. Charcot-Marie-Tooth disease and related peripheral neuropathies: novel mutations in the peripheral myelin genes connexin 32 (Cx32), peripheral myelin protein 22 (PMP22), and peripheral myelin protein zero (MPZ). [J] . Ekici AB, Schweitzer D, Park O, Neurogenetics . 2000,第1期

机译：Charcot-Marie-Tooth病和相关的周围神经病变：外周髓磷脂基因连接蛋白32（Cx32），外周髓磷脂蛋白22（PMP22）和外周髓磷脂蛋白零（MPZ）中的新突变。
3. Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease [J] . BergaminG., BoarettoF., BrianiC., Neuromolecular medicine . 2014,第3期

机译：意大利轴突性夏科-玛丽齿病患者MFN2，GJB1，MPZ和PMP22的突变分析
4. Sarcomere Protein Expression Studies Suggest Mutation-Specific Disease Mechanisms in Human Hypertrophic Cardiomyopathy (HCM) [C] . Ravi Amunugama, Richard Jones, Michael Ford, American Society for Mass Spectrometry Conference on Mass Spectrometry and Allied Topics . 2013

机译：Sarcomere蛋白表达研究表明人肥大心肌病变（HCM）中的突变特异性疾病机制
5. The implications of molecular diagnostics in clinicopathologic correlations in two disease processes: PSA serum levels in acute illnesses, and, prevalence of activated protein C resistance and factor V mutation in patients with thrombosis and in control patients by ethnic group. [D] . Honda, Stacey Ann Akemi. 2002

机译：分子诊断在两种疾病过程中的临床病理相关性中的意义：急性疾病中PSA血清水平，以及血栓形成患者和对照患者（按种族）的活化蛋白C抗性和因子V突变的患病率。
6. Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies [O] . Paola Mandich, Paola Fossa, Simona Capponi, 2009

机译：脱髓鞘和轴突神经病中新型MPZ突变的临床特征和分子模型
7. Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1 [O] . Huehne, Kathrin, Benes, Vladimir, Thiel, Christian, 2003

机译：Charcot-Marie-Tooth病基因PMP22，MPZ和GJB1中的新型突变

Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients

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