SURF-1 gene mutation associated with leukoencephalopathy in a 2-year-old

scientific article published in October 2009

SURF-1 gene mutation associated with leukoencephalopathy in a 2-year-old is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1177/0883073809333543
P698PubMed publication ID19805825

P2093author name stringThomas Geller
Jeremy Timothy
P2860cites workAtypical presentations of leigh syndrome: a case series and reviewQ30988726
The mitochondrion as a primary site of action of steroid and thyroid hormones: presence and action of steroid and thyroid hormone receptors in mitochondria of animal cellsQ33230688
Human cytochrome oxidase deficiencyQ34067750
Brain N-acetylaspartate as a molecular water pump and its role in the etiology of Canavan disease: a mechanistic explanationQ35596595
Diffusion-weighted MR imaging in leukodystrophiesQ36195762
Comparison of diffusion-weighted MRI with changes in cell volume in a rat model of brain injury.Q36738069
Galactosylsphingosine (psychosine)-induced expression of cytokine-mediated inducible nitric oxide synthases via AP-1 and C/EBP: implications for Krabbe diseaseQ40735592
Clinical and molecular survey in 124 Chinese patients with Leigh or Leigh-like syndromeQ48261532
Magnetic resonance imaging in subacute necrotizing encephalomyelopathy (Leigh's disease).Q48336174
Morphological alterations and induction of oxidative stress in glial cells caused by the branched-chain alpha-keto acids accumulating in maple syrup urine diseaseQ48478433
A SURF1 gene mutation presenting as isolated leukodystrophyQ48839472
Two siblings with cytochromec oxidase deficiencyQ48839592
Diffusion-weighted imaging and proton MR spectroscopy in the characterization of acute disseminated encephalomyelitisQ51775349
Effect of cerebrovascular risk factors on regional cerebral blood flowQ56785511
Maternal Segmental Disomy in Leigh Syndrome with Cytochrome c Oxidase Deficiency Caused by Homozygous SURF1 MutationQ56866591
P433issue10
P304page(s)1296-1301
P577publication date2009-10-01
P1433published inJournal of Child NeurologyQ6294935
P1476titleSURF-1 gene mutation associated with leukoencephalopathy in a 2-year-old
P478volume24

Reverse relations

cites work (P2860)
Q37940003Childhood leukodystrophies: a clinical perspective.
Q33684841The use of neuroimaging in the diagnosis of mitochondrial disease.

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