Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency

By Antonicka Hana  

Human Molecular Genetics, Vol. 12, Iss. 20, 2003-10 ,pp. : 2693-2702

Oxford University Press

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A two-hit mechanism causes cerebral cavernous malformations: complete inactivation of CCM1, CCM2 or CCM3 in affected endothelial cells

By Pagenstecher Axel   Stahl Sonja   Sure Ulrich   Felbor Ute  

Human Molecular Genetics, Vol. 18, Iss. 5, 2009-03 ,pp. : 911-918

Oxford University Press

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Conditional deletion of Ccm2 causes hemorrhage in the adult brain: a mouse model of human cerebral cavernous malformations

By Cunningham Kirk   Uchida Yutaka   O'Donnell Erin   Claudio Estefania   Li Wenling   Soneji Kosha   Wang Hongshan   Mukouyama Yoh-suke   Siebenlist Ulrich  

Human Molecular Genetics, Vol. 20, Iss. 16, 2011-08 ,pp. : 3198-3206

Oxford University Press

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De novo mutations (GAG deletion) in the DYT1 gene in two non-Jewish patients with early-onset dystonia

By Brin M.F.  

Human Molecular Genetics, Vol. 7, Iss. 7, 1998-07 ,pp. : 1133-1136

Oxford University Press

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Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis

By Akers Amy L.   Johnson Eric   Steinberg Gary K.   Zabramski Joseph M.   Marchuk Douglas A.  

Human Molecular Genetics, Vol. 18, Iss. 5, 2009-03 ,pp. : 919-930

Oxford University Press

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