ADCK3 mutations with epilepsy, stroke‐like episodes and ataxia: a POLG mimic?

No abstract is available for this paper.

• Publication year

  2016

• Venue

  European Journal of Neurology

• Publication date

  2016-07-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1111/ene.13003PMID 27106809
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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  2014cited by this paper
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  2014cited by this paper
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  2013cited by this paper
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  2013cited by this paper
• An integrated map of genetic variation from 1,092 human genomes

  2012cited by this paper
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  2012cited by this paper
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  2011cited by this paper
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  2011cited by this paper
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  2010cited by this paper
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  2009cited by this paper
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  2008cited by this paper
• Human CoQ10 deficiencies

  2008cited by this paper
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  2008influential reference
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  2007cited by this paper
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  2006cited by this paper
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  2006cited by this paper
• Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.

  2006cited by this paper
• Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: A CoQ10-responsive condition

  2005cited by this paper
• Metabolism and function of coenzyme Q.

  2004cited by this paper
• Familial cerebellar ataxia with muscle coenzyme Q10 deficiency

  2001cited by this paper
• Novel families of putative protein kinases in bacteria and archaea: evolution of the "eukaryotic" protein kinase superfamily.

  1998cited by this paper
• Methods of microphotometric assay of succinate dehydrogenase and cytochromec oxidase activities for use on human skeletal muscle

  1989cited by this paper

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  2024cites this paper
• Refractory Epilepsy in Adult Patient With COQ8A Variant Improves With CoQ10 Supplementation

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  2024cites this paper
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  2024cites this paper
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  2023cites this paper
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  2023cites this paper
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  2023cites this paper
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  2023cites this paper
• Biosynthesis, Deficiency, and Supplementation of Coenzyme Q

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  2023influential citation
• Stroke-like episodes in adult mitochondrial disease.

  2023cites this paper
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  2022cites this paper
• Mitochondrial Epilepsy, a Challenge for Neurologists

  2022cites this paper
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  2022cites this paper
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  2022cites this paper
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  2022cites this paper
• Primary coenzyme Q deficiencies: A literature review and online platform of clinical features to uncover genotype-phenotype correlations.

  2021cites this paper
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  2021cites this paper
• Coenzyme Q Biosynthesis Disorders

  2021cites this paper
• Cellular Models for Primary CoQ Deficiency Pathogenesis Study

  2021cites this paper
• Differential diagnosis of POLG related disorders: What to keep in mind when multiorgan system is involved?

  2021cites this paper
• Photoparoxysmal response in ADCK3 autosomal recessive ataxia: a case report and literature review.

  2021cites this paper
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  2020cites this paper
• Clinico‐Genetic, Imaging and Molecular Delineation of COQ8A ‐Ataxia: A Multicenter Study of 59 Patients

  2020cites this paper
• Towards Central Nervous System Involvement in Adults with Hereditary Myopathies

  2020cites this paper
• Mitochondrial disorders of the OXPHOS system

  2020cites this paper
• Unusual Clinical Presentations in a Patient with Novel ADCK3 Variants

  2020cites this paper
• Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: The multifaceted phenotypic spectrum of KCTD7-related disorders.

  2019cites this paper
• Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature review.

  2019cites this paper
• Cerebral imaging in adult mitochondrial disorders.

  2019cites this paper
• Coenzyme Q10 Deficiency

  2019cites this paper
• Primary Coenzyme Q deficiency Due to Novel ADCK3 Variants, Studies in Fibroblasts and Review of Literature

  2019cites this paper
• JIMD Reports, Volume 42

  2018cites this paper
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  2018cites this paper
• ADCK3‐related Coenzyme Q10 Deficiency: A Potentially Treatable Genetic Disease

  2018cites this paper
• Mitochondrial diseases and status epilepticus

  2018cites this paper
• Clinical syndromes associated with Coenzyme Q10 deficiency.

  2018cites this paper
• Mitochondrial ataxias.

  2018cites this paper
• Compound Heterozygous Inheritance of Mutations in Coenzyme Q8A Results in Autosomal Recessive Cerebellar Ataxia and Coenzyme Q10 Deficiency in a Female Sib-Pair.

  2018cites this paper
• Anti-Oxidant Drugs: Novelties and Clinical Implications in Cerebellar Ataxias

  2018cites this paper
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  2018cites this paper
• Mitochondrial Metabolism in Major Neurological Diseases

  2018cites this paper
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• Biochemical Assessment of Coenzyme Q10 Deficiency

  2017cites this paper
• Advances and insights into neurological practice 2016−17

  2017cites this paper
• Epilepsia partialis continua: A review.

  2017cites this paper
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  2017cites this paper