Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky

By Nikali Kaisu  

Human Molecular Genetics, Vol. 14, Iss. 20, 2005-10 ,pp. : 2981-2990

Oxford University Press

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FOXRED1 , encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy

By Fassone Elisa   Duncan Andrew J.   Taanman Jan-Willem   Pagnamenta Alistair T.   Sadowski Michael I.   Holand Tatjana   Qasim Waseem   Rutland Paul   Calvo Sarah E.   Mootha Vamsi K.   Bitner-Glindzicz Maria   Rahman Shamima  

Human Molecular Genetics, Vol. 19, Iss. 24, 2010-12 ,pp. : 4837-4847

Oxford University Press

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CAG repeat length in RAI1 is associated with age at onset variability in spinocerebellar ataxia type 2 (SCA2)

By Hayes Sean  

Human Molecular Genetics, Vol. 9, Iss. 12, 2000-07 ,pp. : 1753-1758

Oxford University Press

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mip1 containing mutations associated with mitochondrial disease causes mutagenesis and depletion of mtDNA in Saccharomyces cerevisiae

By Stumpf Jeffrey D.   Bailey Christopher M.   Spell Diana   Stillwagon Matthew   Anderson Karen S.   Copeland William C.  

Human Molecular Genetics, Vol. 19, Iss. 11, 2010-06 ,pp. : 2123-2133

Oxford University Press

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Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome

By Luoma Petri T.  

Human Molecular Genetics, Vol. 14, Iss. 14, 2005-07 ,pp. : 1907-1920

Oxford University Press

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