Heterogeneity of coenzyme Q10 deficiency: patient study and literature review (Q36804303)

16 August 2017

Heterogeneity of coenzyme Q10 deficiency: patient study and literature review (English)

1 reference

16 August 2017

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1 reference

Luis C López

2

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Salvatore DiMauro

9

object named as

Salvatore DiMauro

1 reference

16 August 2017

Valentina Emmanuele

1

1 reference

16 August 2017

Andres Berardo

3

1 reference

16 August 2017

Ali Naini

4

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16 August 2017

Saba Tadesse

5

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16 August 2017

Bing Wen

6

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16 August 2017

Erin D'Agostino

7

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16 August 2017

Martha Solomon

8

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16 August 2017

Catarina Quinzii

10

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16 August 2017

Michio Hirano

11

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16 August 2017

1 August 2012

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16 August 2017

Archives of Neurology

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16 August 2017

69

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16 August 2017

8

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16 August 2017

978-983

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Primary and secondary CoQ(10) deficiencies in humans

16 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3639472

The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3639472

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3639472

A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3639472

ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3639472

CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3639472

COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3639472

The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3639472

Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3639472

Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3639472

A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3639472

Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3639472

Coenzyme Q-responsive Leigh's encephalopathy in two sisters

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3639472

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3639472

A case of mitochondrial encephalomyopathy associated with a muscle coenzyme Q10 deficiency.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3639472

Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3639472

Cerebellar ataxia and coenzyme Q10 deficiency

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3639472

Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3639472

Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3639472

Ataxia with oculomotor apraxia type 1 (AOA1): clinical and neuropsychological features in 2 new patients and differential diagnosis.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3639472

Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3639472

Coenzyme Q10 deficiency and isolated myopathy.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3639472

Progression despite replacement of a myopathic form of coenzyme Q10 defect

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3639472

Neonatal liver failure and Leigh syndrome possibly due to CoQ-responsive OXPHOS deficiency

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3639472

Familial cerebellar ataxia with muscle coenzyme Q10 deficiency

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3639472

Coenzyme Q10-responsive ataxia: 2-year-treatment follow-up

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3639472

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

4 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3639472

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

4 December 2018

1 reference

12 December 2020

Neonatal presentation of coenzyme Q10 deficiency

1 reference

12 December 2020

Late-onset cerebellar ataxia with hypogonadism and muscle coenzyme Q10 deficiency

1 reference

12 December 2020

Mitochondrial encephalomyopathy with coenzyme Q10 deficiency

1 reference

12 December 2020

Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation

1 reference

12 December 2020

Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1

1 reference

12 December 2020

Early coenzyme Q10 supplementation in primary coenzyme Q10 deficiency

1 reference

12 December 2020

Hypotonia and infantile spasms: a new phenotype of coenzyme Q10 deficiency?

1 reference

12 December 2020

Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients

1 reference

12 December 2020

10.1001/ARCHNEUROL.2012.206

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DOI

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Fatcat

https://api.fatcat.wiki/v0/release/5iy5mytmebhyjf7r62ghzobzdi

30 July 2022

release_5iy5mytmebhyjf7r62ghzobzdi

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/5iy5mytmebhyjf7r62ghzobzdi

30 July 2022

https://api.fatcat.wiki/v0/release/5iy5mytmebhyjf7r62ghzobzdi

1 reference

30 July 2022

https://api.fatcat.wiki/v0/release/5iy5mytmebhyjf7r62ghzobzdi

PubMed publication ID

1 reference

30 July 2022