Leigh syndrome: One disorder, more than 75 monogenic causes (Q38617364)

4 September 2017

title

Leigh syndrome: One disorder, more than 75 monogenic causes (English)

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4 September 2017

1

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5 June 2020

Alison Compton

series ordinal

2

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5 June 2020

David Thorburn

series ordinal

4

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5 June 2020

author name string

Shamima Rahman

series ordinal

3

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5 June 2020

publication date

27 October 2015

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4 September 2017

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5 June 2020

volume

79

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5 June 2020

issue

2

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5 June 2020

page(s)

190-203

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Minimum birth prevalence of mitochondrial respiratory chain disorders in children

5 June 2020

cites work

1 reference

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

21 January 2018

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Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations

21 January 2018

1 reference

Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples

21 January 2018

1 reference

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

21 January 2018

1 reference

Leigh syndrome, a mitochondrial encephalo(myo)pathy. A review of the literature

21 January 2018

1 reference

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

21 January 2018

1 reference

Cardiomyopathy associated with Leigh's disease

21 January 2018

1 reference

Leigh Syndrome and the Mitochondrial m.13513G>A Mutation: Expanding the Clinical Spectrum

21 January 2018

1 reference

Subacute necrotizing encephalomyelopathy. A review and a study of two families

21 January 2018

1 reference

Late-adult onset Leigh syndrome.

21 January 2018

1 reference

Pathogenic factors underlying the lesions in Leigh's disease. Tissue responses to cellular energy deprivation and their clinico-pathological consequences

21 January 2018

1 reference

Leigh syndrome: neuropathology and pathogenesis.

21 January 2018

1 reference

Subacute necrotizing encephalomyelopathy in an infant

21 January 2018

1 reference

A guide to diagnosis and treatment of Leigh syndrome.

21 January 2018

1 reference

Lactic acidosis with necrotizing encephalopathy in two sibs

21 January 2018

1 reference

Complex I deficiency: clinical features, biochemistry and molecular genetics

21 January 2018

1 reference

A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndrome.

21 January 2018

1 reference

Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2.

21 January 2018

1 reference

Two compound frame-shift mutations in succinate dehydrogenase gene of a Chinese boy with encephalopathy

21 January 2018

1 reference

Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency

21 January 2018

1 reference

Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex II.

21 January 2018

1 reference

Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype

21 January 2018

1 reference

Coenzyme Q-responsive Leigh's encephalopathy in two sisters

21 January 2018

1 reference

176th ENMC International Workshop: diagnosis and treatment of coenzyme Q₁₀ deficiency

21 January 2018

1 reference

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

21 January 2018

1 reference

SURF1 deficiency: a multi-centre natural history study.

21 January 2018

1 reference

A SURF1 gene mutation presenting as isolated leukodystrophy

21 January 2018

1 reference

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

21 January 2018

1 reference

Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy

21 January 2018

1 reference

The natural history of SCO2 deficiency in 36 Polish children confirmed the genotype-phenotype correlation

21 January 2018

1 reference

Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics

21 January 2018

1 reference

Loss of LRPPRC causes ATP synthase deficiency

21 January 2018

1 reference

Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria.

21 January 2018

1 reference

Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy

21 January 2018

1 reference

Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy

21 January 2018

1 reference

Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients.

21 January 2018

1 reference

New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria.

21 January 2018

1 reference

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

21 January 2018

1 reference

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening

21 January 2018

1 reference

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

21 January 2018

1 reference

The mitochondrial DNA transfer RNA(Lys)A-->G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA.

21 January 2018

1 reference

Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation

21 January 2018

1 reference

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

21 January 2018

1 reference

Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype

21 January 2018

1 reference

Females with PDHA1 gene mutations: a diagnostic challenge.

21 January 2018

1 reference

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

21 January 2018

1 reference

Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency

21 January 2018

1 reference

Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5

21 January 2018

1 reference

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

21 January 2018

1 reference

Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway

21 January 2018

1 reference

Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3

21 January 2018

1 reference

Thiamine transporter-2 deficiency: outcome and treatment monitoring

21 January 2018

1 reference

Treatable Leigh-like encephalopathy presenting in adolescence

21 January 2018

1 reference

Phenotypic patterns of MELAS/LS overlap syndrome associated with m.13513G>A mutation, and neuropathological findings in one autopsy case

21 January 2018

1 reference

Brain lesions of the Leigh-type distribution associated with a mitochondriopathy of Pearson's syndrome: light and electron microscopic study

21 January 2018

1 reference

Polymerase gamma deficiency (POLG): clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh's encephalopathy

21 January 2018

1 reference

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

21 January 2018

1 reference

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

21 January 2018

1 reference

Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation

21 January 2018

1 reference

Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Neurological deterioration and lactic acidemia in biotinidase deficiency. A treatable condition mimicking Leigh's disease

21 January 2018

1 reference

Biotinidase knockout mice show cellular energy deficit and altered carbon metabolism gene expression similar to that of nutritional biotin deprivation: clues for the pathogenesis in the human inherited disorder.

21 January 2018

1 reference

Mitochondrial function and toxicity: role of the B vitamin family on mitochondrial energy metabolism

21 January 2018

1 reference

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

21 January 2018

1 reference

Metabolic correlates of hominid brain evolution

21 January 2018

1 reference

Metabolic costs and evolutionary implications of human brain development

21 January 2018

1 reference

Positron emission tomography study of human brain functional development

21 January 2018

1 reference

Neuropathology of mitochondrial diseases

21 January 2018

1 reference

A mitochondrial protein compendium elucidates complex I disease biology

21 January 2018

1 reference

Primary respiratory chain disease causes tissue-specific dysregulation of the global transcriptome and nutrient-sensing signaling network

21 January 2018

1 reference

Next-generation sequencing for mitochondrial disorders

21 January 2018

1 reference

Whole exome sequencing of suspected mitochondrial patients in clinical practice.

21 January 2018

1 reference

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

21 January 2018

1 reference

Opa1 overexpression ameliorates the phenotype of two mitochondrial disease mouse models.

21 January 2018

1 reference

Increased superoxide accumulation in pyruvate dehydrogenase complex deficient fibroblasts

21 January 2018

1 reference

Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease.

21 January 2018

1 reference

Complex I deficiency due to loss of Ndufs4 in the brain results in progressive encephalopathy resembling Leigh syndrome

21 January 2018

1 reference

Loss of mitochondrial complex I activity potentiates dopamine neuron death induced by microtubule dysfunction in a Parkinson's disease model

21 January 2018

1 reference

Neuronal and astrocyte dysfunction diverges from embryonic fibroblasts in the Ndufs4fky/fky mouse.

21 January 2018

1 reference

Decreased in vitro mitochondrial function is associated with enhanced brain metabolism, blood flow, and memory in Surf1-deficient mice

21 January 2018

1 reference

Salvaging hope: Is increasing NAD(+) a key to treating mitochondrial myopathy?

21 January 2018

1 reference

Mapping NAD(+) metabolism in the brain of ageing Wistar rats: potential targets for influencing brain senescence.

21 January 2018

1 reference

NAD(+)-dependent activation of Sirt1 corrects the phenotype in a mouse model of mitochondrial disease

21 January 2018

1 reference

Emerging aspects of treatment in mitochondrial disorders

21 January 2018

1 reference

Mitochondrial dysfunction and the inflammatory response

21 January 2018

1 reference

Redox signalling and mitochondrial stress responses; lessons from inborn errors of metabolism.

21 January 2018

1 reference

Anesthetic considerations in patients with mitochondrial defects

21 January 2018

1 reference

A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome

21 January 2018

1 reference

SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness

21 January 2018

1 reference

Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children.

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/ANA.24551

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26506407%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

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