Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family with a GARS gene mutation-Reference-Cited by-同舟云学术

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Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family with a GARS gene mutation

Published:2006-03-13 Issue:5 Volume:66 Page:752-754
ISSN:0028-3878
Container-title:Neurology
language:en
Short-container-title:Neurology

Author:

Del Bo R.,Locatelli F.,Corti S.,Scarlato M.,Ghezzi S.,Prelle A.,Fagiolari G.,Moggio M.,Carpo M.,Bresolin N.,Comi G. P.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Neurology (clinical)

Cited by 59 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. Insights into phenotypic variability caused by GARS1 pathogenic variants;European Journal of Neurology;2024-07-25

2. Dominant aminoacyl-tRNA synthetase disorders: lessons learned from in vivo disease models;Frontiers in Neuroscience;2023-05-12

3. Pathogenic missense variants altering codon 336 of GARS1 lead to divergent dominant phenotypes;Human Mutation;2022-04-21

4. Rare among Rare: Phenotypes of Uncommon CMT Genotypes;Brain Sciences;2021-12-08

5. AAV1.NT-3 gene therapy in a CMT2D model: phenotypic improvements in GarsP278KY/+ mice;Brain Communications;2021-10-01

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