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2017 | 2 |
2021 | 1 |
2024 | 0 |
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Page 1
Riboflavin Responsive Mitochondrial Dysfunction in Neurodegenerative Diseases.
J Clin Med. 2017 May 5;6(5):52. doi: 10.3390/jcm6050052.
J Clin Med. 2017.
PMID: 28475111
Free PMC article.
Review.
Novel ALDH3A2 mutations in structural and functional domains of FALDH causing diverse clinical phenotypes in Sjögren-Larsson syndrome patients.
Rajeshwari M, Karthi S, Singh R, Efthymiou S, Gowda VK, Varalakshmi P, Srinivasan VM, Houlden H, Keller MA, Rizzo WB, Ashokkumar B.
Rajeshwari M, et al.
Hum Mutat. 2021 Aug;42(8):1015-1029. doi: 10.1002/humu.24236. Epub 2021 Jun 15.
Hum Mutat. 2021.
PMID: 34082469
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3'-UTR SNP rs2229611 in G6PC1 affects mRNA stability, expression and Glycogen Storage Disease type-Ia risk.
Karthi S, Rajeshwari M, Francis A, Saravanan M, Varalakshmi P, Houlden H, Thangaraj K, Ashokkumar B.
Karthi S, et al. Among authors: rajeshwari m.
Clin Chim Acta. 2017 Aug;471:46-54. doi: 10.1016/j.cca.2017.05.016. Epub 2017 May 11.
Clin Chim Acta. 2017.
PMID: 28502559
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