Novel mutation in the SOD 1 gene in a patient with early‐onset, rapidly progressive amyotrophic lateral sclerosis-Reference-Cited by-同舟云学术

Novel mutation in the SOD 1 gene in a patient with early‐onset, rapidly progressive amyotrophic lateral sclerosis

Published:2017-09-05 Issue:6 Volume:5 Page:189-191
ISSN:2049-4173
Container-title:Neurology and Clinical Neuroscience
language:en
Short-container-title:Neurology & Clinical Neurosc

Author:

Okazaki Masahiro¹,Suzuki Hidekazu¹,Takahashi Yuji²,Ishiura Hiroyuki²,Goto Jun²,Hirano Makito¹³^ORCID,Saigoh Kazumasa¹,Nakamura Yusaku³,Naruse Hiroya²,Mitsui Jun²^ORCID,Tsuji Shoji²,Kusunoki Susumu¹

Affiliation:

1. Department of Neurology Faculty of Medicine Kindai UniversityOsaka Japan

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

3. Department of Neurology Faculty of Medicine Sakai Hospital Kindai University OsakaJapan

Funder

Ministry of Education, Culture, Sports, Science and Technology

Japan Agency for Medical Research and Development

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://pericles-gcp.literatumonline.com/doi/pdf/10.1111/ncn3.12153

Reference6 articles.

1. Amyotrophic Lateral Ssclerosis and Structural Defects in Cu,Zn Superoxide Dismutase

2. VCP gene analyses in Japanese patients with sporadic amyotrophic lateral sclerosis identify a new mutation;Hirano M;Neurobiol. Aging,2015

3. Conversion to the amyotrophic lateral sclerosis phenotype is associated with intermolecular linked insoluble aggregates of SOD1 in mitochondria

4. ERBB4 Mutations that Disrupt the Neuregulin-ErbB4 Pathway Cause Amyotrophic Lateral Sclerosis Type 19

5. Fast course ALS presenting with vocal cord paralysis: Clinical features, bioinformatic and modelling analysis of the novel SOD1 Gly147Ser mutation

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