Axonal Charcot-Marie-Tooth neuropathy concurrent with distal and proximal weakness by translational elongation of the 3′ UTR in NEFH-Reference-Cited by-同舟云学术

Axonal Charcot-Marie-Tooth neuropathy concurrent with distal and proximal weakness by translational elongation of the 3′ UTR in NEFH

Published:2017-09 Issue:3 Volume:22 Page:200-207
ISSN:1085-9489
Container-title:Journal of the Peripheral Nervous System
language:en
Short-container-title:J Peripher Nerv Syst

Author:

Nam Da Eun¹,Jung Sung-Chul²,Yoo Da Hye¹,Choi Sun Seong¹,Seo Sung-Yum¹,Kim Gwang Hoon¹,Kim Song Ja¹,Nam Soo Hyun¹³,Choi Byung-Ok³⁴,Chung Ki Wha¹

Affiliation:

1. Department of Biological Sciences; Kongju National University; Gongju Korea

2. Department of Biochemistry; Ewha Womans University School of Medicine; Seoul Korea

3. Department of Neurology, and Stem Cell & Regenerative Medicine Institute; Samsung Medical Center, Sungkyunkwan University School of Medicine; Seoul Korea

4. Department of Health Sciences and Technology; Samsung Advanced Institute for Health Science & Technology, Sungkyunkwan University; Seoul Korea

Funder

Korean Health Technology R&D Project

Ministry of Health & Welfare

National Research Foundation

Ministry of Science, ICT and Future Planning

Publisher

Wiley

Subject

Neurology (clinical),General Neuroscience

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/jns.12223/fullpdf

Reference23 articles.

1. MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs;Albulym;Ann Neurol,2016

2. Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis;Al-Chalabi;Hum Mol Genet,1999

3. NEFL N98S mutation: another cause of dominant intermediate Charcot-Marie-Tooth disease with heterogeneous early-onset phenotype;Berciano;J Neurol,2016

4. Charcot-Marie-Tooth disease neurofilament mutations disrupt neurofilament assembly and axonal transport;Brownlees;Hum Mol Genet,2002

5. A novel homozygous MPV17 mutation in two families with axonal sensorimotor polyneuropathy;Choi;BMC Neurol,2015

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1. Neurofilaments in health and Charcot-Marie-Tooth disease;Frontiers in Cell and Developmental Biology;2023-12-18

2. A novel single-point mutation of NEFH and biallelic SACS mutation presenting as intermediate form Charcot-Marie-Tooth: A case report in Vietnam;Surgical Neurology International;2022-11-25

3. An NEFH founder mutation causes broad phenotypic spectrum in multiple Japanese families;Journal of Human Genetics;2022-01-28

4. Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype;Journal of Neurology, Neurosurgery & Psychiatry;2021-09-13

5. Proximal weakness involvement in the first Italian case of Charcot‐Marie‐Tooth 2CC harboring a novel frameshift variant in NEFH;Journal of the Peripheral Nervous System;2021-05-19