p.N345K mutation in TARDBP in a patient with familial amyotrophic lateral sclerosis: An autopsy case-Reference-Cited by-同舟云学术

p.N345K mutation in TARDBP in a patient with familial amyotrophic lateral sclerosis: An autopsy case

Published:2019-05-24 Issue:4 Volume:39 Page:286-293
ISSN:0919-6544
Container-title:Neuropathology
language:en
Short-container-title:Neuropathology

Author:

Takeda Takahiro¹²^ORCID,Iijima Mutsumi¹,Shimizu Yuko¹,Yoshizawa Hiroshi¹,Miyashiro Mayu³,Onizuka Hiromi⁴,Yamamoto Tomoko⁴,Nishiyama Ayumi⁵,Suzuki Naoki⁵,Aoki Masashi⁵,Shibata Noriyuki⁴,Kitagawa Kazuo¹

Affiliation:

1. Department of NeurologyTokyo Women's Medical University Tokyo Japan

2. Department of Neurology, National Hospital OrganizationChibahigashi National Hospital Chiba Japan

3. Faculty of MedicineTokyo Women's Medical University Tokyo Japan

4. Department of PathologyTokyo Women's Medical University Tokyo Japan

5. Department of NeurologyTohoku University School of Medicine Sendai Japan

Publisher

Wiley

Subject

Neurology (clinical),General Medicine,Pathology and Forensic Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/neup.12559

Reference29 articles.

1. Ubiquitinated TDP-43 in Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis

2. TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

3. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

4. Amyotrophic Lateral Sclerosis

5. TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

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2. Slow disease progression and characteristic TDP‐43 inclusions in a patient with familial amyotrophic lateral sclerosis carrying a TARDBP G357S variant;Neuropathology and Applied Neurobiology;2024-02

3. An efficient induction method for human spinal lower motor neurons and high-throughput image analysis at the single cell level;2023-04-19

4. Sensory Involvement in Amyotrophic Lateral Sclerosis;International Journal of Molecular Sciences;2022-12-08

5. An Atypical Presentation of Upper Motor Neuron Predominant Juvenile Amyotrophic Lateral Sclerosis Associated with TARDBP Gene: A Case Report and Review of the Literature;Genes;2022-08-19