Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)-First Report of Clinical and Imaging Features from India, and a Novel SACS Gene Duplication-Reference-Cited by-同舟云学术

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)-First Report of Clinical and Imaging Features from India, and a Novel SACS Gene Duplication

Published:2017-08-09 Issue:5 Volume:4 Page:775-777
ISSN:2330-1619
Container-title:Movement Disorders Clinical Practice
language:en
Short-container-title:Mov Disord Clin Pract

Author:

Agarwal Pankaj A.¹^ORCID,Ate-Upasani Priti²,Ramprasad Vedam L.³

Affiliation:

1. Movement Disorders Clinic; Department of Neurology; Institute of Neuroscience; Global Hospitals; Parel Mumbai India

2. Department of Radiology and Imaging; Upasani Hospital; Mulund Mumbai India

3. Medgenome Laboratories Private Limited; Bangalore Karnataka India

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mdc3.12520/fullpdf

Reference11 articles.

1. Electromyography and nerve conduction studies in Friedreich's ataxia and autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS);Bouchard;Can J Neurol Sci,1979

2. Clinical presentation and early evolution of spastic ataxia of Charlevoix-Saguenay;Duquette;Mov Disord,2013

3. Identification of a SACS gene missense mutation in ARSACS;Ogawa;Neurology,2004

4. Novel mutations in typical and atypical genetic loci through exome sequencing in autosomal recessive cerebellar ataxia families;Faruq;Clin Genet,2014

5. The UCSC Genome Browser database: extensions and updates 2013;Meyer;Nucleic Acids Res,2013

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1. Autosomal recessive spastic ataxia of charlevoix-saguenay (ARSACS)-first with tongue wasting, peripheral nerve thickening and a novel SACS gene mutation;Acta Neurologica Belgica;2024-08-29

2. Thickened Retinal Nerve Fiber Layer Without Hypermyelination in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay;Journal of VitreoRetinal Diseases;2024-05-06

3. Early-Onset Spastic Ataxia Due to a Novel Mutation of the SACS Gene – A Case Report from North India with a Review of Indian Literature;Annals of Indian Academy of Neurology;2023

4. Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix–Saguenay to develop patient-reported outcome;Orphanet Journal of Rare Diseases;2022-10-01

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