(Q31034830)

28 June 2017

title

Leigh syndrome: Resolving the clinical and genetic heterogeneity paves the way for treatment options (English)

1 reference

28 June 2017

3

Hubert J M Smeets

1 reference

28 June 2017

1

Mike Gerards

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28 June 2017

author name string

Suzanne C E H Sallevelt

series ordinal

2

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28 June 2017

publication date

19 December 2015

1 reference

Molecular Genetics and Metabolism

28 June 2017

published in

1 reference

28 June 2017

volume

117

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28 June 2017

issue

3

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28 June 2017

page(s)

300-312

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Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy

28 June 2017

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Leigh syndrome caused by a novel m.4296G>A mutation in mitochondrial tRNA isoleucine.

7 January 2021

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Hereditary disorders in Saguenay-Lac-St-Jean (Quebec, Canada)

7 January 2021

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A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.

7 January 2021

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Low citrulline in Leigh disease: still a biomarker of maternally inherited Leigh syndrome

7 January 2021

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Long-term outcome of Leigh syndrome caused by the NARP-T8993C mtDNA mutation

7 January 2021

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LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency.

7 January 2021

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Necrotising haemorrhagic encephalomyelopathy in an adult: Leigh's disease

7 January 2021

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Cytochrome c oxidase deficiency: patients and animal models

7 January 2021

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Pathogenic mitochondrial DNA mutations are common in the general population

7 January 2021

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

7 January 2021

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Initial experience in the treatment of inherited mitochondrial disease with EPI-743.

7 January 2021

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HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase

7 January 2021

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Leigh and Leigh-like syndrome in children and adults

7 January 2021

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Efficacy of pyruvate therapy in patients with mitochondrial disease: a semi-quantitative clinical evaluation study

7 January 2021

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Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome

7 January 2021

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Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome

7 January 2021

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Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies

7 January 2021

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A randomized trial of coenzyme Q10 in mitochondrial disorders

7 January 2021

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Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy

7 January 2021

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Adult form of Leigh's disease: a clinico pathological case with CT scan examination

7 January 2021

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Efficacy of idebenone for respiratory failure in a patient with Leigh syndrome: a long-term follow-up study

7 January 2021

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Coenzyme Q10 as a therapy for mitochondrial disease

7 January 2021

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NDUFA2 complex I mutation leads to Leigh disease

7 January 2021

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7 January 2021

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Leigh's encephalomyelopathy: an inborn error of gluconeogenesis

7 January 2021

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Atypical presentations of leigh syndrome: a case series and review

7 January 2021

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A hemizygous GYG2 mutation and Leigh syndrome: a possible link?

7 January 2021

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mTOR inhibition alleviates mitochondrial disease in a mouse model of Leigh syndrome

7 January 2021

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A novel mutation in the SCO2 gene in a neonate with early-onset cardioencephalomyopathy

7 January 2021

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Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease.

7 January 2021

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7 January 2021

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7 January 2021

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Beneficial effect of pyruvate therapy on Leigh syndrome due to a novel mutation in PDH E1α gene.

7 January 2021

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A novel mtDNA C11777A mutation in Leigh syndrome

7 January 2021

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Pyruvate therapy for Leigh syndrome due to cytochrome c oxidase deficiency.

7 January 2021

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7 January 2021

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7 January 2021

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Diffusion-weighted imaging in preclinical Leigh syndrome

7 January 2021

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7 January 2021

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7 January 2021

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Leigh syndrome: clinical and neuroimaging follow-up

7 January 2021

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7 January 2021

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Impact commentaries. Subacute necrotising encephalomyelopathy (Leigh's disease; Leigh syndrome).

7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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

7 January 2021

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Beneficial effects of resveratrol on respiratory chain defects in patients' fibroblasts involve estrogen receptor and estrogen-related receptor alpha signaling

7 January 2021

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

7 January 2021

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Correction of increased plasma pyruvate and plasma lactate levels using large doses of thiamine in patients with Kearns-Sayre syndrome

7 January 2021

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An adult case of Leigh disease

7 January 2021

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Population prevalence of the MELAS A3243G mutation.

7 January 2021

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Cardiac mitochondrial dysfunction in Leigh syndrome

7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency

7 January 2021

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Late-adult onset Leigh syndrome.

7 January 2021

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Mitochondrial respiratory chain disorders in childhood: insights into diagnosis and management in the new era of genomic medicine.

7 January 2021

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7 January 2021

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Progressive encephalopathy and complex I deficiency associated with mutations in MTND1.

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Loss of LRPPRC causes ATP synthase deficiency

7 January 2021

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MtDNA mutations are a common cause of severe disease phenotypes in children with Leigh syndrome

7 January 2021

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Adult Leigh syndrome with mitochondrial DNA mutation at 8993.

7 January 2021

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A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy

7 January 2021

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Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency

7 January 2021

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Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.12.004

Thiamine transporter-2 deficiency: outcome and treatment monitoring

7 January 2021

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Hypertrichosis in patients with SURF1 mutations

7 January 2021

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Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations

7 January 2021

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Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome

7 January 2021

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A mitochondrial protein compendium elucidates complex I disease biology

7 January 2021

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Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome

7 January 2021

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Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G).

7 January 2021

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The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients

7 January 2021

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ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism

7 January 2021

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New treatments for mitochondrial disease-no time to drop our standards

7 January 2021

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SURF1 missense mutations promote a mild Leigh phenotype.

7 January 2021

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NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological disease.

7 January 2021

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Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh disease

7 January 2021

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PDH E1β deficiency with novel mutations in two patients with Leigh syndrome

7 January 2021

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Persistent hypocitrullinaemia as a marker for mtDNA NARP T 8993 G mutation?

7 January 2021

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Leigh syndrome: clinical features and biochemical and DNA abnormalities.

7 January 2021

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Human diseases with impaired mitochondrial protein synthesis

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.12.004

The mitochondrial 13513G>A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff–Parkinson–White

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.12.004

Succinate dehydrogenase - Assembly, regulation and role in human disease

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.12.004

Maternally inherited encephalopathy associated with a single-base insertion in the mitochondrial tRNATrp gene

7 January 2021

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A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency

7 January 2021

1 reference

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Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood

7 January 2021

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LRPPRC and SLIRP interact in a ribonucleoprotein complex that regulates posttranscriptional gene expression in mitochondria.

7 January 2021

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Strategies for treating mitochondrial disorders: an update

7 January 2021

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Molecular mechanisms underlying genotype-dependent responses to dietary restriction.

7 January 2021

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Minimum birth prevalence of mitochondrial respiratory chain disorders in children

7 January 2021

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A multicenter study on Leigh syndrome: disease course and predictors of survival

7 January 2021

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Clinical and magnetic resonance imaging findings in patients with Leigh syndrome and SURF1 mutations.

7 January 2021

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Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase

7 January 2021

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Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan

7 January 2021

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Infantile encephalopathy associated with the MELAS A3243G mutation

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Mitochondrial DNA mutation underlying Leigh's syndrome: clinical, pathological, biochemical, and genetic studies of a patient presenting with progressive myoclonic epilepsy

7 January 2021

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

7 January 2021

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Therapeutic potential of pyruvate therapy for mitochondrial diseases.

7 January 2021

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Unusual clinical presentations in four cases of Leigh disease, cytochrome C oxidase deficiency, and SURF1 gene mutations.

7 January 2021

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Leigh disease associated with a novel mitochondrial DNA ND5 mutation

7 January 2021

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Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

7 January 2021

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A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome

7 January 2021

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Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency

7 January 2021

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Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I.

7 January 2021

1 reference

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Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation

7 January 2021

1 reference

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Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.12.004

The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.12.004

Mutated ND2 impairs mitochondrial complex I assembly and leads to Leigh syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.12.004

Subacute necrotizing encephalopathy (Leigh) in an adult

7 January 2021

1 reference

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Cochlear degeneration in leigh disease: histopathologic features

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.12.004

Medicine. A common pathway for a rare disease?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.12.004

Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu

7 January 2021

1 reference

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Defective NDUFA9 as a novel cause of neonatally fatal complex I disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.12.004

Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy

7 January 2021

1 reference

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Coenzyme Q-responsive Leigh's encephalopathy in two sisters

7 January 2021

1 reference

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In vivo correction of COX deficiency by activation of the AMPK/PGC-1α axis

7 January 2021

1 reference

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Antenatal manifestations of mitochondrial respiratory chain deficiency

7 January 2021

1 reference

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Resveratrol protects against global cerebral ischemic injury in gerbils

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.12.004

Mutation of mitochondrial DNA G13513A presenting with Leigh syndrome, Wolff-Parkinson-White syndrome and cardiomyopathy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.12.004

A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.12.004

RETRACTED: Activation of the PPAR/PGC-1alpha pathway prevents a bioenergetic deficit and effectively improves a mitochondrial myopathy phenotype

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.12.004

Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.12.004

Mechanisms of unexpected death and autopsy findings in Leigh syndrome (subacute necrotising encephalomyelopathy).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.12.004

Glomerulocystic kidney associated with subacute necrotizing-encephalomyelopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.12.004

SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.12.004

Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2015.12.004

Leigh's disease due to a new mutation in the PDHX gene

7 January 2021

1 reference

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The genetics of Leigh syndrome and its implications for clinical practice and risk management

7 January 2021

1 reference

7 July 2024

https://opencitations.net/index/api/v1/references/10.1016/J.YMGME.2015.12.004

Reply: Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease.

1 reference

7 July 2024

https://opencitations.net/index/api/v1/references/10.1016/J.YMGME.2015.12.004

Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome

1 reference

7 July 2024

https://opencitations.net/index/api/v1/references/10.1016/J.YMGME.2015.12.004

Idebenone treatment in patients with OPA1-mutant dominant optic atrophy

1 reference

7 July 2024

https://opencitations.net/index/api/v1/references/10.1016/J.YMGME.2015.12.004

Idebenone treatment in Leber's hereditary optic neuropathy.

1 reference

7 July 2024

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Identifiers

DOI

10.1016/J.YMGME.2015.12.004

1 reference

28 June 2017

1 reference