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Authors: Lambert P. van den Heuvel
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Journal Article

ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

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Radha Desai and others
Brain, Volume 140, Issue 6, June 2017, Pages 1595–1610, https://doi.org/10.1093/brain/awx094
Published: 24 May 2017
Journal Article

A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy

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An I. Jonckheere and others
Brain, Volume 136, Issue 5, May 2013, Pages 1544–1554, https://doi.org/10.1093/brain/awt086
Published: 18 April 2013
Journal Article

Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy

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Saskia B. Wortmann and others
Brain, Volume 132, Issue 1, January 2009, Pages 136–146, https://doi.org/10.1093/brain/awn296
Published: 16 November 2008