Clinical, biochemical and molecular aspects of cerebellar ataxia and Coenzyme Q10 deficiency
- 1 June 2007
- journal article
- review article
- Published by Springer Nature in The Cerebellum
- Vol. 6 (2) , 118-122
- https://doi.org/10.1080/14734220601021700
Abstract
Coenzyme Q10(CoQ) deficiency is an autosomal recessive disorder presenting five phenotypes: a myopathic form, a severe infantile neurological syndrome associated with nephritic syndrome, an ataxic...Keywords
This publication has 25 references indexed in Scilit:
- Cerebellar ataxia with coenzyme Q10 deficiency: Diagnosis and follow-up after coenzyme Q10 supplementationJournal of the Neurological Sciences, 2006
- Late-onset cerebellar ataxia with hypogonadism and muscle coenzyme Q10 deficiencyNeurology, 2004
- Cerebellar ataxia and coenzyme Q10 deficiencyNeurology, 2003
- Coenzyme Q10 depletion is comparatively less detrimental to human cultured skin fibroblasts than respiratory chain complex deficiencies.Free Radical Research, 2002
- Coenzyme Q 10 reverses pathological phenotype and reduces apoptosis in familial CoQ 10 deficiencyNeurology, 2001
- Plasma membrane NADH‐coenzyme Q0 reductase generates semiquinone radicals and recycles vitamin E homologue in a superoxide‐dependent reactionFEBS Letters, 1998
- A case of mitochondrial encephalomyopathy associated with a muscle coenzyme Q10 deficiencyJournal of the Neurological Sciences, 1998
- Coenzyme Q reductase from liver plasma membrane: purification and role in trans-plasma-membrane electron transport.Proceedings of the National Academy of Sciences, 1995
- Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy.Proceedings of the National Academy of Sciences, 1989
- Isolation of a quinone from beef heart mitochondriaBiochimica et Biophysica Acta, 1957