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2004 | 1 |
2008 | 1 |
2024 | 0 |
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Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis.
Am J Hum Genet. 2008 Mar;82(3):673-84. doi: 10.1016/j.ajhg.2007.12.019. Epub 2008 Feb 28.
Am J Hum Genet. 2008.
PMID: 18308289
Free PMC article.
Action myoclonus-renal failure syndrome: characterization of a unique cerebro-renal disorder.
Badhwar A, Berkovic SF, Dowling JP, Gonzales M, Narayanan S, Brodtmann A, Berzen L, Caviness J, Trenkwalder C, Winkelmann J, Rivest J, Lambert M, Hernandez-Cossio O, Carpenter S, Andermann F, Andermann E.
Badhwar A, et al.
Brain. 2004 Oct;127(Pt 10):2173-82. doi: 10.1093/brain/awh263. Epub 2004 Sep 13.
Brain. 2004.
PMID: 15364701
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