Clinical and mutational spectrum of Charcot–Marie–Tooth disease type 2Z caused by MORC2 variants in Japan-Reference-Cited by-同舟云学术

Clinical and mutational spectrum of Charcot–Marie–Tooth disease type 2Z caused by MORC2 variants in Japan

Published:2017-08-03 Issue:10 Volume:24 Page:1274-1282
ISSN:1351-5101
Container-title:European Journal of Neurology
language:en
Short-container-title:Eur J Neurol

Author:

Ando M.¹^ORCID,Okamoto Y.¹,Yoshimura A.¹,Yuan J.‐H.¹,Hiramatsu Y.¹,Higuchi Y.¹,Hashiguchi A.¹,Mitsui J.²,Ishiura H.²,Fukumura S.³,Matsushima M.⁴^ORCID,Ochi N.⁵,Tsugawa J.⁶,Morishita S.⁷,Tsuji S.²,Takashima H.¹

Affiliation:

1. Department of Neurology and Geriatrics Graduate School of Medical and Dental Sciences, Kagoshima University Kagoshima

2. Department of Neurology Graduate School of Medicine The University of Tokyo Tokyo

3. Department of Pediatrics School of Medicine Sapporo Medical University Sapporo

4. Department of Neurology Hokkaido University Graduate School of Medicine Sapporo

5. Aichi Prefectural Mikawa Aoitori and Rehabilitation Center for Developmental Disabilities Aichi

6. Department of Neurology Fukuoka University Faculty of Medicine Fukuoka

7. Department of Computational Biology and Medical Sciences Graduate School of Frontier Sciences The University of Tokyo Chiba Japan

Funder

Japan Agency for Medical Research and Development

Japan Society for the Promotion of Science London

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ene.13360

Reference21 articles.

1. THE CLINICAL FEATURES OF HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPES I AND II

2. CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis

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

4. Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success

5. Mutations in MME cause an autosomal‐recessive Charcot–Marie–Tooth disease type 2

Cited by 33 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Intermediate phenotype between CMT2Z and DIGFAN associated with a novel MORC2 variant: a case report;Human Genome Variation;2024-08-15

2. Oncogenic MORC2 in cancer development and beyond;Genes & Diseases;2024-03

3. Genetic diversity in hereditary axonal neuropathy: Analyzing 53 Brazilian children;Journal of the Peripheral Nervous System;2024-02-20

4. A Novel Heterozygous De Novo MORC2 Missense Variant Causes an Early Onset and Severe Neurodevelopmental Disorder;Case Reports in Genetics;2024-01-02

5. High Expression of MORC2 is Associated with Poor Clinical Outcomes and Immune Infiltrates in Colon Adenocarcinoma;International Journal of General Medicine;2023-10