Expanding the spectrum of <i>KIF5A</i> mutations—case report of a large kindred with familial ALS and overlapping syndrome-Reference-Cited by-同舟云学术

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Expanding the spectrum of KIF5A mutations—case report of a large kindred with familial ALS and overlapping syndrome

Published:2023-01-05 Issue:3-4 Volume:24 Page:347-350
ISSN:2167-8421
Container-title:Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
language:en
Short-container-title:Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Author:

Dulski JarosŁaw¹²³,Strongosky Audrey J.¹,Al-Shaikh Rana Hanna¹,Wszolek Zbigniew K.¹

Affiliation:

1. Department of Neurology, Mayo Clinic, Jacksonville, FL, USA

2. Division of Neurological and Psychiatric Nursing, Faculty of Health Sciences, Medical University of Gdansk, Gdansk, Poland

3. Neurology Department, St Adalbert Hospital, Copernicus PL Ltd., Gdansk, Poland

Publisher

Informa UK Limited

Subject

Neurology (clinical),Neurology

Link

https://www.tandfonline.com/doi/pdf/10.1080/21678421.2022.2164204

Reference11 articles.

1. Hot-spot KIF5A mutations cause familial ALS

2. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

3. Novel FUS mutation Y526F causing rapidly progressive familial amyotrophic lateral sclerosis

4. A novel mutation in the cleavage site N291 of TDP-43 protein in a familial case of amyotrophic lateral sclerosis

5. A novel nonsense SOD1 mutation (p.Asn140Ter) in a sporadic amyotrophic lateral sclerosis case with rapid progression

Cited by 3 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. The ALS-associated KIF5A P986L variant is not pathogenic for Drosophila motoneurons;Scientific Reports;2024-08-22

2. Whole-Genome Sequencing Identified a Novel Mutation in the N-Terminal Domain of KIF5A in Chinese Patients with Familial Amyotrophic Lateral Sclerosis;Genes;2024-05-24

3. Heterogeneous splicing patterns resulting from KIF5A variants associated with amyotrophic lateral sclerosis;Human Molecular Genetics;2023-08-18

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