Widening the clinical, radiological and genetic spectrum of autosomal recessive ataxia of Charlevoix-Saguenay in Indian patients
Author:
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s13760-023-02400-0.pdf
Reference27 articles.
1. Bouchard JP, Richter A, Mathieu J et al (1998) Autosomal recessive spastic ataxia of Charlevoix-Saguenay. Neuromuscul Disord 8:474–479
2. Baets J, Deconinck T, Smets K, Goossens D, Van den Bergh P, Dahan K, Schmedding E, Santens P, Rasic VM, Van Damme P et al (2010) Mutations in SACS cause atypical and late-onset forms of ARSACS. Neurology 75:1181–1188
3. Engert JC, Berube P, Mercier J et al (2000) ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF. Nat Genet 24:120–125
4. Gomez CM (2004) ARSACS goes global. Neurology 62:10–11
5. M.H. Martin, J.P. Bouchard, M. Sylvain, O. St. Onge, S. Truchon, (2007) Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay: A Report of MR Imaging in 5 Patients Am J Neuroradiol 28:1606–08
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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
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