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Hereditary neuropathy with liability to pressure palsy in childhood. [Journal Article]
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A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42). [Journal Article, Research Support, Non-U.S. Gov't]
Am J Hum Genet 2008 Dec; 83(6):752-9.
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Mitofusin 2 tethers endoplasmic reticulum to mitochondria. [Journal Article, Research Support, Non-U.S. Gov't]
Nature 2008 Dec 4; 456(7222):605-10.
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No To Hattatsu 2008 Nov; 40(6):460-4.
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