Histopathological features of a patient with Charcot-Marie-Tooth disease type 2U/AD-CMTax-MARS-Reference-Cited by-同舟云学术

Histopathological features of a patient with Charcot-Marie-Tooth disease type 2U/AD-CMTax-MARS

Published:2016-12 Issue:4 Volume:21 Page:370-374
ISSN:1085-9489
Container-title:Journal of the Peripheral Nervous System
language:en
Short-container-title:J Peripher Nerv Syst

Author:

Hirano Makito¹²,Oka Nobuyuki³,Hashiguchi Akihiro⁴,Ueno Shuichi¹²,Sakamoto Hikaru¹,Takashima Hiroshi⁴,Higuchi Yujiro⁴,Kusunoki Susumu²,Nakamura Yusaku¹

Affiliation:

1. Department of Neurology; Sakai Hospital Kindai University Faculty of Medicine; Sakai Japan

2. Department of Neurology; Kindai University Faculty of Medicine; Osakasayama Japan

3. Department of Neurology; National Hospital Organization Minami-Kyoto Hospital; Joyo Japan

4. Department of Neurology and Geriatrics; Kagoshima University Graduate School of Medical and Dental Sciences; Kagoshima Japan

Funder

Ministry of Health, Welfare and Labour, Japan

Japan Agency for Medical Research and Development

Publisher

Wiley

Subject

Clinical Neurology,General Neuroscience

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/jns.12193/fullpdf

Reference12 articles.

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2. Biallelic mutations of methionyl-tRNA synthetase cause a specific type of pulmonary alveolar proteinosis prevalent on reunion island;Hadchouel;Am J Hum Genet,2015

3. Pathological findings in the x-linked form of Charcot-Marie-Tooth disease: a morphometric and ultrastructural analysis;Hahn;Acta Neuropathol,2001

4. Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2;Higuchi;Ann Neurol,2016

5. Rare variants in methionyl- and tyrosyl-tRNA synthetase genes in late-onset autosomal dominant Charcot-Marie-Tooth neuropathy;Hyun;Clin Genet,2014

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2. Clinical characteristics and proteome modifications in two Charcot-Marie-Tooth families with the AARS1 Arg326Trp mutation;BMC Neurology;2022-08-15

3. Clinicopathological features in two families with MARS ‐related Charcot–Marie–Tooth disease;Neuropathology;2022-06-20

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