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Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Case Report of a Novel Nonsense Mutation in the SACS Gene.
2020
Ayush Agarwal, and Divyani Garg, and Akash Kharat, and Abdul Qavi
Department of Neurology, Dr Ram Manohar Lohia Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
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Ayush Agarwal, and Divyani Garg, and Akash Kharat, and Abdul Qavi
SACS Mutation-Positive Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay (ARSACS) from Kerala.
January 2020, Annals of Indian Academy of Neurology,
Ayush Agarwal, and Divyani Garg, and Akash Kharat, and Abdul Qavi
A novel SACS mutation in an atypical case with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
January 2012, Internal medicine (Tokyo, Japan),
Ayush Agarwal, and Divyani Garg, and Akash Kharat, and Abdul Qavi
Novel SACS mutation in autosomal recessive spastic ataxia of Charlevoix-Saguenay.
November 2015, Journal of the neurological sciences,
Ayush Agarwal, and Divyani Garg, and Akash Kharat, and Abdul Qavi
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): novel compound heterozygous mutations in the SACS gene.
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Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) - A Polish family with novel SACS mutations.
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Novel Mutation in SACS Gene in a Patient with Autosomal Recessive Spastic Ataxia Charlevoix-Saguenay.
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Ayush Agarwal, and Divyani Garg, and Akash Kharat, and Abdul Qavi
Insights into SACS pathological attributes in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)☆.
December 2022, Current opinion in chemical biology,
Ayush Agarwal, and Divyani Garg, and Akash Kharat, and Abdul Qavi
Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey.
September 2004, Neurogenetics,
Ayush Agarwal, and Divyani Garg, and Akash Kharat, and Abdul Qavi
Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type.
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Ayush Agarwal, and Divyani Garg, and Akash Kharat, and Abdul Qavi
Autosomal recessive spastic ataxia of Charlevoix-Saguenay: compound heterozygotes for nonsense mutations of the SACS gene.
December 2011, Journal of child neurology,
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