Neuroradiological features of six kindreds with MELAS tRNA(Leu) A2343G point mutation: implications for pathogenesis. - Wikidata - wikimedia - TriplyDB

Neuroradiological features of six kindreds with MELAS tRNA(Leu) A2343G point mutation: implications for pathogenesis.

Neuroradiological features of six kindreds with MELAS tRNA(Leu) A2343G point mutation: implications for pathogenesis.

http://www.wikidata.org/entity/Q36318499

about

Identification of mineral deposits in the brain on radiological images: a systematic review.Bevacizumab-induced tumor calcifications as a surrogate marker of outcome in patients with glioblastoma.Microangiopathy in the cerebellum of patients with mitochondrial DNA disease Mitochondrial mutations: newly discovered players in neuronal degeneration.Investigating complex I deficiency in Purkinje cells and synapses in patients with mitochondrial disease Clinical and Molecular Characteristics in 100 Chinese Pediatric Patients with m.3243A>G Mutation in Mitochondrial DNA Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.Fahr's syndrome: literature review of current evidence.The mitochondrial brain: From mitochondrial genome to neurodegeneration Intracranial calcification in childhood: a review of aetiologies and recognizable phenotypes.Truth is a daughter of time: a case of MELAS diagnosed 25 years after initial manifestation.CT and MRI imaging of the brain in MELAS syndrome.Neuroimaging characteristics in mitochondrial encephalopathies associated with the m.3243A>G MTTL1 mutation.Diffuse magnetic resonance imaging white-matter changes in a 15-year-old boy with mitochondrial encephalomyopathy.MELAS: a neuropsychological and radiological follow-up study. Mitochondrial encephalomyopathy, lactic acidosis and stroke.NEWS and VIEWS: mitochondrial encephalomyopathies.Brain single photon emission computed tomography in patients with A3243G mutation in mitochondrial DNA tRNA.Early-onset cataracts, spastic paraparesis, and ataxia caused by a novel mitochondrial tRNAGlu (MT-TE) gene mutation causing severe complex I deficiency: a clinical, molecular, and neuropathologic study.Expanding spectrum of abnormal movements in MELAS syndrome (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes).Executive and visuospatial deficits in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome.Corticobasal degeneration syndrome with basal ganglia calcification: Fahr's disease as a corticobasal look-alike?Bilateral Polymicrogyria and MELAS/A3243G Mutation. A Very Uncommon Association.

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P2860

Neuroradiological features of six kindreds with MELAS tRNA(Leu) A2343G point mutation: implications for pathogenesis.

http://www.wikidata.org/entity/Q36318499

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P2860

Mitochondrial encephalomyopathy: variable clinical expression within a single kindred.

A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex I

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

Functional architecture of basal ganglia circuits: neural substrates of parallel processing

The neurology of endemic cretinism. A study of two endemias.

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

A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF).

Disorders of lysosomes, peroxisomes, and mitochondria.

Sequencing and quantitative assessment of mutant and wild-type mitochondrial DNA in paraffin sections from cases of MELAS.

The significance of the incidental finding of basal ganglia calcification on computed tomography.

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