Prominent Sensorimotor Neuropathy Due to SACS Mutations Revealed by Whole-Exome Sequencing-Reference-Cited by-同舟云学术

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Prominent Sensorimotor Neuropathy Due to SACS Mutations Revealed by Whole-Exome Sequencing

Published:2012-10-01 Issue:10 Volume:69 Page:
ISSN:0003-9942
Container-title:Archives of Neurology
language:en
Short-container-title:Arch Neurol

Author:

Pyle Angela,Griffin Helen,Yu-Wai-Man Patrick,Duff Jennifer,Eglon Gail,Pickering-Brown Stuart,Santibanez-Korev Mauro,Horvath Rita,Chinnery Patrick F.

Publisher

American Medical Association (AMA)

Subject

Clinical Neurology,Arts and Humanities (miscellaneous)

Cited by 18 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. Widening the clinical, radiological and genetic spectrum of autosomal recessive ataxia of Charlevoix-Saguenay in Indian patients;Acta Neurologica Belgica;2023-10-29

2. Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration;International Journal of Molecular Sciences;2022-01-04

3. Autosomal recessive spastic ataxia of Charlevoix-Saguenay caused by novel mutations in SACS gene: A report of two Chinese families;Neuroscience Letters;2021-05

4. High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics;Journal of Medical Genetics;2021-03-05

5. A novel homozygous SACS mutation identified by whole exome sequencing-genotype phenotype correlations of all published cases;Journal of Molecular Neuroscience;2019-11-07

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