Distal hereditary motor neuropathy due to a novel <scp><i>YARS1</i></scp> gene pathogenic variant-Reference-Cited by-同舟云学术

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Distal hereditary motor neuropathy due to a novel YARS1 gene pathogenic variant

Published:2023-03-27 Issue:6 Volume:67 Page:
ISSN:0148-639X
Container-title:Muscle & Nerve
language:en
Short-container-title:Muscle and Nerve

Author:

Llauradó Arnau¹^ORCID,Gratacòs‐Viñola Margarida²,Rovira‐Moreno Eulàlia³,Codina‐Solà Marta³,Salvadó Maria¹,Sanchez‐Tejerina Daniel¹,Sotoca Javier¹,Raguer Núria²,Garcia‐Arumi Elena³,Juntas‐Morales Raul¹

Affiliation:

1. Neuromuscular Diseases Unit, European Reference Network on Rare Neuromuscular Diseases (ERN EURO‐NMD), Department of Neurology Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona Barcelona Spain

2. Department of Clinical Neurophysiology Hospital Vall d'Hebron, Universitat Autònoma de Barcelona Barcelona Spain

3. Department of Clinical and Molecular Genetics Hospital Vall d'Hebron, Universitat Autònoma de Barcelona Barcelona Spain

Publisher

Wiley

Subject

Physiology (medical),Cellular and Molecular Neuroscience,Neurology (clinical),Physiology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mus.27788

Reference6 articles.

1. Genetic spectrum in a cohort of patients with distal hereditary motor neuropathy

2. Emerging mechanisms of aminoacyl-tRNA synthetase mutations in recessive and dominant human disease

3. Variants of aminoacyl‐tRNA synthetase genes in Charcot‐Marie‐Tooth disease: A Korean cohort study

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