Mice lacking COX10 in skeletal muscle recapitulate the phenotype of progressive mitochondrial myopathies associated with cytochrome c oxidase deficiency

By Diaz Francisca  

Human Molecular Genetics, Vol. 14, Iss. 18, 2005-09 ,pp. : 2737-2748

Oxford University Press

Access to resources Recommend Favorite

CCM3 Mutations Are Associated with Early-Onset Cerebral Hemorrhage and Multiple Meningiomas

By  

Molecular Syndromology, Vol. 4, Iss. 4, 2013-04 ,pp. : 165-172

Karger

Access to resources Recommend Favorite

A mutation in the human heme A:farnesyltransferase gene ( COX10 ) causes cytochrome c oxidase deficiency

By Valnot Isabelle   von Kleist-Retzow Jürgen-Christoph   Barrientos Antoni  

Human Molecular Genetics, Vol. 9, Iss. 8, 2000-05 ,pp. : 1245-1249

Oxford University Press

Access to resources Recommend Favorite

Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion

By Hakonen Anna H.   Goffart Steffi   Marjavaara Sanna   Paetau Anders   Cooper Helen   Mattila Kimmo   Lampinen Milla   Sajantila Antti   Lnnqvist Tuula   Spelbrink Johannes N.   Suomalainen Anu  

Human Molecular Genetics, Vol. 17, Iss. 23, 2008-12 ,pp. : 3822-3835

Oxford University Press

Access to resources Recommend Favorite

Genome-wide linkage analysis of severe, early-onset chronic obstructive pulmonary disease: airflow obstruction and chronic bronchitis phenotypes

By Campbell E.J.  

Human Molecular Genetics, Vol. 11, Iss. 6, 2002-03 ,pp. : 623-632

Oxford University Press

Access to resources Recommend Favorite