Concepedia

Clinical and magnetic resonance imaging findings in patients with Leigh syndrome and SURF1 mutations

Kothari Sonam, Nahid Khan, Parayil Sankaran Bindu, Arun B. Taly, Narayanappa Gayathri, M. M. Srinivas Bharath, C. Govindaraju, H.R. Arvinda, Madhu Nagappa, Sanjib Sinha,

Brain and Development · 2013 · 30 citations · 24 references

DOI

Concepts

References

24

SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

Zhiqing Zhu, Jianbo Yao, Timothy Johns et al. · Nature Genetics · 1998 · 625 citations

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Mutations of SURF-1 in Leigh Disease Associated with Cytochrome c Oxidase Deficiency

Valeria Tiranti, Konstanze Hoertnagel, Rosalba Carrozzo et al. · The American Journal of Human Genetics · 1998 · 529 citations · Full text

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19F magnetic resonance imaging

G. N. Holland, Paul A. Bottomley, W. S. Hinshaw · Journal of Magnetic Resonance (1969) · 1977 · 491 citations

, , +11

Leigh's Encephalomyelopathy in a Patient With Cytochrome <i>c</i> Oxidase Deficiency in Muscle Tissue

J. L. Willems, L.A.H. Monnens, J. M. F. Trijbels et al. · PEDIATRICS · 1977 · 238 citations

, , +17

Differential features of patients with mutations in two COX assembly genes,SURF-1 andSCO2

Carolyn M. Sue, Charalampos Karadimas, Nicoletta Checcarelli et al. · Annals of Neurology · 2000 · 139 citations

, , +17