<scp>SARS1</scp> (<scp>SerRS</scp>) Causing <scp>De Novo</scp> Dominant <scp>Charcot–Marie–Tooth</scp> Disease with Slow Conduction-Reference-Cited by-同舟云学术

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SARS1 (SerRS) Causing De Novo Dominant Charcot–Marie–Tooth Disease with Slow Conduction

Published:2023-10-03 Issue:6 Volume:94 Page:1187-1188
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Annals of Neurology

Author:

Record Christopher J.¹^ORCID,Skorupinksa Mariola¹,Zuchner Stephan²,Blake Julian¹³,Reilly Mary M.¹

Affiliation:

1. Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology London UK

2. Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics University of Miami Miller School of Medicine Miami Florida USA

3. Department of Clinical Neurophysiology Norfolk and Norwich University Hospital Norwich UK

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ana.26792

Reference4 articles.

1. Heterozygous Seryl‐tRNA Synthetase 1 Variants Cause Charcot–Marie–Tooth Disease

2. Knee bobbing in Charcot–Marie–Tooth disease: Figure 1

3. Loss of seryl-tRNA synthetase (SARS1) causes complex spastic paraplegia and cellular senescence

4. Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy

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1. Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease;Brain;2024-03-14

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