Ophthalmic manifestations of inherited neurodegenerative disorders

HM Kersten, RH Roxburgh… - Nature Reviews …, 2014 - nature.com
Ophthalmic findings are common features of neurodegenerative disorders and, in addition to
being clinically important, have emerged as potentially useful biomarkers of disease …

Mutation Analysis of MFN2, GJB1, MPZ and PMP22 in Italian Patients with Axonal Charcot–Marie–Tooth Disease

G Bergamin, F Boaretto, C Briani, E Pegoraro… - Neuromolecular …, 2014 - Springer
Abstract Charcot–Marie–Tooth (CMT) diseases include a group of clinically heterogeneous
inherited neuropathies subdivided into demyelinating (CMT1), axonal (CMT2) and …

[引用][C] 线粒体融合蛋白2 基因突变致夏科-马里-图斯病2A2 亚型的表型分析

段晓慧, 顾卫红, 郝莹, 王国相, 汪仁斌, 樊东升 - 中华神经科杂志, 2014