Nerve enlargement in an unusual case of inflammatory neuropathy and new gene mutation-morphology is the key.

作者信息

Grimm Alexander, Winter Natalie, Wolking Stefan, Vittore Debora, Biskup Saskia, Axer Hubertus

机构信息

Department of Neurology, Tübingen University Hospital, University Tübingen, Hoppe-Seyler-Strasse 3, D-72072, Tübingen, Germany.

Center for Genomics and Transcriptions, Tuebingen, Germany.

出版信息

Neurol Sci. 2017 Aug;38(8):1525-1527. doi: 10.1007/s10072-017-2960-3. Epub 2017 Apr 19.

DOI:10.1007/s10072-017-2960-3

PMID:28424919

Abstract

摘要

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Neurology. 2017 Jan 10;88(2):143-151. doi: 10.1212/WNL.0000000000003483. Epub 2016 Dec 7.

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Biochem J. 2016 Nov 1;473(21):3965-3978. doi: 10.1042/BCJ20160657. Epub 2016 Aug 31.

Ultrasound pattern sum score, homogeneity score and regional nerve enlargement index for differentiation of demyelinating inflammatory and hereditary neuropathies.用于鉴别脱髓鞘性炎性和遗传性神经病的超声图像总和评分、均匀性评分及局部神经增粗指数

Clin Neurophysiol. 2016 Jul;127(7):2618-24. doi: 10.1016/j.clinph.2016.04.009. Epub 2016 Apr 21.

The modified ultrasound pattern sum score mUPSS as additional diagnostic tool for genetically distinct hereditary neuropathies.改良超声模式总和评分（mUPSS）作为遗传性神经病基因分型的辅助诊断工具。

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