Review: Central nervous system involvement in mitochondrial disease (Q38861730)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27287935%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

review article

1 reference

title

Review: Central nervous system involvement in mitochondrial disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27287935%20AND%20SRC:MED&resulttype=core&format=json

central nervous system disease

13 March 2020

main subject

2 references

24 March 2019

25 April 2019

mitochondrial disease

2 references

24 March 2019

25 April 2019

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27287935%20AND%20SRC:MED&resulttype=core&format=json

Douglass Matthew Turnbull

13 March 2020

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27287935%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

author name string

N Z Lax

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27287935%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

publication date

7 July 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27287935%20AND%20SRC:MED&resulttype=core&format=json

Neuropathology and Applied Neurobiology

13 March 2020

published in

3 references

24 March 2019

25 April 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27287935%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

volume

43

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27287935%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

page(s)

102-118

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27287935%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27287935%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution

13 March 2020

copyright license

2 references

24 March 2019

25 April 2019

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on focus list of Wikimedia project

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9 September 2017

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9 September 2017

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Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease

9 September 2017

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9 September 2017

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Mitochondrial Diseases Part III: Therapeutic interventions in mouse models of OXPHOS deficiencies

9 September 2017

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9 September 2017

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Quantitative quadruple-label immunofluorescence of mitochondrial and cytoplasmic proteins in single neurons from human midbrain tissue

9 September 2017

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Activity-driven local ATP synthesis is required for synaptic function.

9 September 2017

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Quality control: Genome maintenance in pluripotent stem cells

9 September 2017

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Posterior reversible encephalopathy syndrome in an adult patient undergoing peritoneal dialysis: a case report and literature review

9 September 2017

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Targeting deficiencies in mitochondrial respiratory complex I and functional uncoupling exerts anti-seizure effects in a genetic model of temporal lobe epilepsy and in a model of acute temporal lobe seizures

9 September 2017

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Partial complex I deficiency due to the CNS conditional ablation of Ndufa5 results in a mild chronic encephalopathy but no increase in oxidative damage

9 September 2017

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Dopamine-agonist responsive Parkinsonism in a patient with the SANDO syndrome caused by POLG mutation

9 September 2017

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Tissue- and cell-type-specific manifestations of heteroplasmic mtDNA 3243A>G mutation in human induced pluripotent stem cell-derived disease model.

9 September 2017

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Supercomplex assembly determines electron flux in the mitochondrial electron transport chain

9 September 2017

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Mitochondrial diseases and epilepsy

9 September 2017

1 reference

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A defect in the mitochondrial complex III, but not complex IV, triggers early ROS-dependent damage in defined brain regions.

9 September 2017

1 reference

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Microangiopathy in the cerebellum of patients with mitochondrial DNA disease

9 September 2017

1 reference

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Loss of myelin-associated glycoprotein in kearns-sayre syndrome

9 September 2017

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Decreased hippocampal expression of calbindin D28K and cognitive impairment in MELAS

9 September 2017

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Cerebellar ataxia in patients with mitochondrial DNA disease: a molecular clinicopathological study

9 September 2017

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Sensory neuronopathy in patients harbouring recessive polymerase γ mutations

9 September 2017

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MFN2 mutations cause severe phenotypes in most patients with CMT2A.

9 September 2017

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Synaptic mitochondria in synaptic transmission and organization of vesicle pools in health and disease

9 September 2017

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Impaired nigrostriatal function precedes behavioral deficits in a genetic mitochondrial model of Parkinson's disease

9 September 2017

1 reference

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MELAS and L-arginine therapy: pathophysiology of stroke-like episodes.

9 September 2017

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

9 September 2017

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A mouse model of mitochondrial disease reveals germline selection against severe mtDNA mutations

9 September 2017

1 reference

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Age-associated mosaic respiratory chain deficiency causes trans-neuronal degeneration

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

Prevalence of mitochondrial DNA disease in adults

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

Progressive parkinsonism in mice with respiratory-chain-deficient dopamine neurons

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

Energy metabolism in astrocytes: high rate of oxidative metabolism and spatiotemporal dependence on glycolysis/glycogenolysis

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

Pathogenesis of stroke-like episodes in MELAS: analysis of neurovascular cellular mechanisms.

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

Subacute necrotizing encephalomyelopathy in an infant

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

An energy budget for signaling in the grey matter of the brain

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

Ubiquitin tag for sperm mitochondria

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

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

9 September 2017

1 reference

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Mitochondrial transcription factor A is necessary for mtDNA maintenance and embryogenesis in mice

9 September 2017

1 reference

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Sequence and organization of the human mitochondrial genome

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

Melas: an original case and clinical criteria for diagnosis

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

Human induced pluripotent stem cells harbor homoplasmic and heteroplasmic mitochondrial DNA mutations while maintaining human embryonic stem cell-like metabolic reprogramming

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

Severe nigrostriatal degeneration without clinical parkinsonism in patients with polymerase gamma mutations

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

Adult-onset MELAS. Evidence for involvement of neurons as well as cerebral vasculature in strokelike episodes.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

Cerebral hyperemia in MELAS.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

Cerebral circulation in acute arterial hypertension—protective effects of sympathetic nervous activity

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

Vascular involvement in mitochondrial myopathy.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

Strongly succinate dehydrogenase-reactive blood vessels in muscles from patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

Mitochondrial DNA homeostasis is essential for nigrostriatal integrity.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

Gait analysis in a mouse model resembling Leigh disease.

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

Cerebral hyperperfusion and decreased cerebrovascular reactivity correlate with neurologic disease severity in MELAS.

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

Mitochondrial recessive ataxia syndrome: A neurological rarity not to be missed.

22 August 2018

1 reference

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Neuropathologic features of pontocerebellar hypoplasia type 6.

22 August 2018

1 reference

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Vasodilatation of multiple cerebral arteries in early stage of stroke-like episode with MELAS.

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

Detection of preclinically latent hyperperfusion due to stroke-like episodes by arterial spin-labeling perfusion MRI in MELAS patients.

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

Mesencephalic complex I deficiency does not correlate with parkinsonism in mitochondrial DNA maintenance disorders.

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

CLARITY for mapping the nervous system

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

Disease-causing mitochondrial heteroplasmy segregated within induced pluripotent stem cell clones derived from a patient with MELAS.

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

Neuroimaging characteristics in mitochondrial encephalopathies associated with the m.3243A>G MTTL1 mutation

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

Characterizing POLG ataxia: clinics, electrophysiology and imaging.

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

Relationship between mitochondria and α-synuclein: a study of single substantia nigra neurons.

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

Regression of stroke-like lesions in MELAS-syndrome after seizure control

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

Role of sympathetic nervous system in activity-induced cerebral perfusion.

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

Epileptic phenotypes in children with respiratory chain disorders

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

Rare autosomal dominant POLG1 mutation in a family with metabolic strokes, posterior column spinal degeneration, and multi-endocrine disease.

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion.

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

Serial brain imaging analysis of stroke-like episodes in MELAS.

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

Inappropriate intracranial hemodynamics in the natural course of MELAS.

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

The neuropsychologic deficits of MELAS: evidence of global impairment.

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

MELAS associated with mutations in the POLG1 gene.

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

Molecular neuropathology of MELAS: level of heteroplasmy in individual neurones and evidence of extensive vascular involvement.

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

Endothelial dysfunction in MELAS improved by l-arginine supplementation.

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

Mitochondrial DNA deletions are abundant and cause functional impairment in aged human substantia nigra neurons.

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

POLG mutations in Alpers syndrome

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

Predominant cerebellar volume loss as a neuroradiologic feature of pediatric respiratory chain defects.

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

Clinicopathological aspects of the neuropathy of neurogastrointestinal encephalomyopathy (MNGIE) in four patients including two with a Charcot-Marie-Tooth presentation

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

L-arginine improves the symptoms of strokelike episodes in MELAS.

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

Cerebral lactic acidosis correlates with neurological impairment in MELAS.

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

MNGIE neuropathy: five cases mimicking chronic inflammatory demyelinating polyneuropathy

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

Slowly progressive spread of the stroke-like lesions in MELAS

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

MELAS: clinical phenotype and morphological brain abnormalities

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

Serial diffusion-weighted imaging in a patient with MELAS and presumed cytotoxic oedema.

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

Executive and visuospatial deficits in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome.

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

The A8344G mutation in mitochondrial DNA associated with stroke-like episodes and gastrointestinal dysfunction.

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

Neuronal hyperexcitability in stroke-like episodes of MELAS syndrome

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

Effects of L-arginine on the acute phase of strokes in three patients with MELAS.

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

Late-onset corticohippocampal neurodepletion attributable to catastrophic failure of oxidative phosphorylation in MILON mice.

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

Epileptic phenotypes associated with mitochondrial disorders.

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

Mitochondrial encephalomyopathy with lactic acidosis and stroke like episodes (MELAS) with prominent degeneration of the intestinal wall and cactus-like cerebellar pathology.

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

Focal cognitive impairment in mitochondrial encephalomyopathies: a neuropsychological and neuroimaging study.

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

Disconnection of cerebellar Purkinje cells in Kearns-Sayre syndrome.

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

22 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5363248

Serial diffusion-weighted imaging in MELAS

22 August 2018

1 reference

12 December 2020

Nerve conduction abnormalities in patients with MELAS and the A3243G mutation

1 reference

12 December 2020

Peripheral neuropathy in patients with the 3243A>G mutation in mitochondrial DNA

1 reference

12 December 2020

Increased cerebral blood flow in MELAS shown by Tc-99m HMPAO brain SPECT

1 reference

12 December 2020

Recurrent Stroke-Like Episodes in FBXL4-Associated Early-Onset Mitochondrial Encephalomyopathy

1 reference

12 December 2020

Mitochondrial complex I deficiency in the epileptic focus of patients with temporal lobe epilepsy

1 reference

12 December 2020

Serial Diffusion Imaging in a Case of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes

1 reference

12 December 2020

Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism

1 reference

12 December 2020

Vasogenic edema on MELAS: a serial study with diffusion-weighted MR imaging

1 reference

12 December 2020

MELAS with the mitochondrial DNA 3243 point mutation: a neuropathological study

1 reference

12 December 2020

Identifiers

DOI

10.1111/NAN.12333

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27287935%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27287935%20AND%20SRC:MED&resulttype=core&format=json

13 March 2020

1 reference