Mitochondrial disease and epilepsy (Q37979255)

26 August 2017

Mitochondrial disease and epilepsy (English)

1 reference

26 August 2017

1 reference

mitochondrial disease

1 reference

Shamima Rahman

1

1 reference

26 August 2017

28 January 2012

1 reference

Developmental Medicine and Child Neurology

26 August 2017

1 reference

26 August 2017

54

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26 August 2017

397-406

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26 August 2017

5

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Diagnosis and therapy in neuromuscular disorders: diagnosis and new treatments in mitochondrial diseases

26 August 2017

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

Mitochondrial disorders: prevalence, myths and advances.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

A mitochondrial protein compendium elucidates complex I disease biology

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

Epilepsy and respiratory chain defects in children with mitochondrial encephalopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

Metabolic testing in the pediatric epilepsy unit

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

Epileptic phenotypes in children with respiratory chain disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

Mitochondrial respiratory chain defects: underlying etiology in various epileptic conditions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

Epileptic phenotypes associated with mitochondrial disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

Status epilepticus in children with Alpers' disease caused by POLG1 mutations: EEG and MRI features

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

The first nuclear-encoded complex I mutation in a patient with Leigh syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

C6ORF66 is an assembly factor of mitochondrial complex I

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

A novel mitochondrial DNA mutation in COX1 leads to strokes, seizures, and lactic acidosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

Clinical and molecular survey in 124 Chinese patients with Leigh or Leigh-like syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

Diagnosis of mitochondrial DNA depletion syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

Progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher syndrome): a personal review

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

Polymerase gamma disease through the ages

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser(UCN)) gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

Pontocerebellar hypoplasia type 6: A British case with PEHO-like features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

Preventive effect of melatonin against cyanide-induced seizures and lipid peroxidation in mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

The role of mitochondria in epileptogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

Is it ADEM, POLG, or both?

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

Valproic acid aggravates epilepsy due to MELAS in a patient with an A3243G mutation of mitochondrial DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) triggered by valproate therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

Brain pseudoatrophy and mental regression on valproate and a mitochondrial DNA mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

POLG1 manifestations in childhood

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

Carnitine in the treatment of valproic acid-induced toxicity

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

Antimyoclonic effect of levetiracetam in MERRF syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

Basal ganglia neuroprotection with anticonvulsants after energy stress: a comparative study

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

MELAS and L-arginine therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

Ketogenic treatment reduces deleted mitochondrial DNAs in cultured human cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

Ketogenic diet slows down mitochondrial myopathy progression in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

Ketogenic diet in Alpers-Huttenlocher syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.04214.X

10.1111/J.1469-8749.2011.04214.X

21 January 2018

Identifiers

DOI

1 reference

release_zz2ukszlgrdcbnsvyt7wc6375q

26 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/zz2ukszlgrdcbnsvyt7wc6375q

mapped directly with Wikidata item

24 November 2022

based on heuristic

PubMed ID

22283595

1 reference

PubMed ID

22283595