(Q36691223)

15 August 2017

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title

Some observations upon biochemical causes of ataxia and a new disease entity ubiquinone, CoQ10 deficiency (English)

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15 August 2017

John M Land

1

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15 August 2017

Simon J R Heales

series ordinal

2

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15 August 2017

Andrew J Duncan

series ordinal

3

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15 August 2017

Iain P Hargreaves

series ordinal

4

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15 August 2017

publication date

21 December 2006

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15 August 2017

published in

Neurochemical Research

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15 August 2017

volume

32

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15 August 2017

issue

4-5

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15 August 2017

page(s)

837-843

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https://scigraph.springernature.com/pub.10.1007/s11064-006-9222-8

15 August 2017

exact match

0 references

cites work

[ON THE PRESENCE OF 3,7,11,15-TETRAMETHYLHEXADECANOIC ACID (PHYTANIC ACID) IN THE CHOLESTEROL ESTERS AND OTHER LIPOID FRACTIONS OF THE ORGANS IN A CASE OF A DISEASE OF UNKNOWN ORIGIN (POSSIBLY HEREDOPATHIA ATACTICA POLYNEURITIFORMIS, REFSUM'S SYNDR

1 reference

https://api.crossref.org/works/10.1007%2FS11064-006-9222-8

Phytanic acid storage disease: hearing maintained after 15 years of dietary treatment.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11064-006-9222-8

A possible mechanism for selective cerebellar damage in partial pyruvate dehydrogenase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11064-006-9222-8

The kinetic basis of threshold effects observed in mitochondrial diseases: a systemic approach

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11064-006-9222-8

Progression despite replacement of a myopathic form of coenzyme Q10 defect

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11064-006-9222-8

Biochemical, physiological and medical aspects of ubiquinone function

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11064-006-9222-8

Cerebellar ataxia and coenzyme Q10 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11064-006-9222-8

Heredopathia atactica polyneuritiformis (Refsum's Disease): a second trial of dietary therapy in two patients

21 January 2018

1 reference

12 December 2020

Cerebrospinal fluid concentrations of idebenone in Friedreich ataxia patients

1 reference

12 December 2020

Molecular basis of Friedreich ataxia

1 reference

12 December 2020

Cerebellar ataxia with coenzyme Q10 deficiency: Diagnosis and follow-up after coenzyme Q10 supplementation

1 reference

12 December 2020

Conversion of U-C14-phytol to phytanic acid and its oxidation in heredopathia atactica polyneuritiformis

1 reference

12 December 2020

Localization of the oxidative defect in phytanic acid degradation in patients with Refsum's disease

1 reference

12 December 2020

Targeting cellular energy production in neurological disorders

1 reference

12 December 2020

Oxidative stress, mitochondrial dysfunction and cellular stress response in Friedreich's ataxia

1 reference

12 December 2020

Dietary effects on serum-phytanic-acid levels and on clinical manifestations in heredopathia atactica polyneuritiformis

1 reference

12 December 2020

Coenzyme Q10 reverses pathological phenotype and reduces apoptosis in familial CoQ10 deficiency

1 reference

12 December 2020

Cellular redox poise modulation; the role of coenzyme Q10, gene and metabolic regulation

1 reference

12 December 2020

Clinical Studies of a Patient With Pyruvate Decarboxylase Deficiency

1 reference

12 December 2020

Metabolism and function of coenzyme Q.

1 reference

12 December 2020

Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy

1 reference

12 December 2020

A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q.

1 reference

12 December 2020

Nonaprenyl-4-hydroxybenzoate transferase, an enzyme involved in ubiquinone biosynthesis, in the endoplasmic reticulum-Golgi system of rat liver

1 reference

12 December 2020

Alpha-hydroxy fatty acids in hereditary ataxic polyneuritis (Refsum's disease).

1 reference

12 December 2020

A defect in pyruvate decarboxylase in a child with an intermittent movement disorder

1 reference

12 December 2020

Clinical and genetic abnormalities in patients with Friedreich's ataxia

1 reference

12 December 2020

Intermittent ataxia with pyruvate-decarboxylase deficiency.

1 reference

12 December 2020

Energy thresholds in brain mitochondria. Potential involvement in neurodegeneration.

1 reference

12 December 2020

Mitochondrial dysfunction in neurodegenerative diseases

1 reference

12 December 2020

Coenzyme Q10: absorption, tissue uptake, metabolism and pharmacokinetics

1 reference

12 December 2020

A new Coenzyme Q10 tablet-grade formulation (all-Q) is bioequivalent to Q-Gel and both have better bioavailability properties than Q-SorB

1 reference

12 December 2020

Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency

1 reference

12 December 2020

Restoring balance to ataxia with coenzyme Q10 deficiency

1 reference

12 December 2020

Increased levels of plasma malondialdehyde in Friedreich ataxia

1 reference

12 December 2020

Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study

1 reference

12 December 2020

Clinical laboratory monitoring of coenzyme Q10 use in neurologic and muscular diseases

1 reference

12 December 2020

Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency

1 reference

12 December 2020

Neonatal presentation of coenzyme Q10 deficiency

1 reference

12 December 2020

Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene

1 reference

12 December 2020

Studies on the alpha oxidation of phytanic acid by rat liver mitochondria

1 reference

12 December 2020

The formation of alpha-hydroxy phytanic acid from phytanic acid in mammalian tissues

1 reference

12 December 2020

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

1 reference

12 December 2020

Coenzyme Q10 deficiency and isolated myopathy.

1 reference

12 December 2020

Mitochondrial enzymes in hereditary ataxias

1 reference

12 December 2020

Coenzyme Q-responsive Leigh's encephalopathy in two sisters

1 reference

12 December 2020

Coenzyme Q10 in neurodegenerative diseases

1 reference

12 December 2020

Determination of coenzyme Q10 status in blood mononuclear cells, skeletal muscle, and plasma by HPLC with di-propoxy-coenzyme Q10 as an internal standard.

1 reference

12 December 2020

Mitochondrial dysfunction and spinocerebellar degenerations

1 reference

12 December 2020

Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation

1 reference

12 December 2020

10.1007/S11064-006-9222-8

Identifiers

DOI

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15 August 2017

1 reference