Results 31 to 40 of about 27,503 (244)
Frontiers in Pediatrics, 2022 Leigh syndrome is a neurodegenerative disorder that presents with fluctuation and stepwise deterioration, such as neurodevelopmental delay and regression, dysarthria, dysphagia, hypotonia, dystonia, tremor, spasticity, epilepsy, and respiratory problems.
Jaewon Kim, Jaewoong Lee, Dae-Hyun Jang
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Leigh Map: A Novel Computational Diagnostic Resource for Mitochondrial Disease [PDF]
, 2017 peer reviewedMitochondrial disorders are amongst the most severe metabolic disorders and are beset by genetic, biochemical, and clinical heterogeneity.
Rahman, S +7 more
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Clinical Hypertension, 2023 Background Leigh syndrome is a progressive neurodegenerative mitochondrial disorder caused by multiple genetic etiologies with multisystemic involvement that mostly affecting the central nervous system with high rate of premature mortality.
Ana Solis +3 more
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Exploring mTOR inhibition as treatment for mitochondrial disease
Annals of Clinical and Translational Neurology, 2019 Leigh syndrome and MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke‐like episodes) are two of the most frequent pediatric mitochondrial diseases. Both cause severe morbidity and neither have effective treatment.
Abigail Sage‐Schwaede +6 more
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Leigh's disease involving multiple organs [PDF]
Journal of Korean Medical Science, 1993 Leigh's disease is a rare progressive neurological disorder that is characterized light microscopically by focal spongy necrosis in the brain and electron microscopically by mitochondriopathy. We report an autopsy case of Leigh's disease that showed abnormalities in the liver, kidney and skeletal muscle as well as the central nervous system.
Kyeong Cheon Jung +5 more
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Stem Cell Research, 2021 Leigh syndrome is a progressive neurodegenerative disease due to defects in the mitochondrial genes, including mitochondrial DNA cytochrome b (MTCYB) mutation, that typically begins in infancy or early childhood.
Daryeon Son +3 more
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Mapping gene associations in human mitochondria using clinical disease phenotypes [PDF]
, 2009 Nuclear genes encode most mitochondrial proteins, and their mutations cause diverse and debilitating clinical disorders. To date, 1,200 of these mitochondrial genes have been recorded, while no standardized catalog exists of the associated clinical ...
Curt Scharfe +22 more
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Head Trauma as a Precipitating Factor for Late-onset Leigh Syndrome: a Case Report
Archives of Academic Emergency Medicine, 2017 Leigh syndrome is a severe progressive neurodegenerative disorder with different clinical presentationsthat usually becomes apparent in the first year of life and rarely in late childhood and elderly years.
Farzad Ashrafi +3 more
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MUSCLE PATHOLOGY IN LEIGH'S DISEASE [PDF]
Pediatric Research, 1974 Leigh's Encephalopathy (SNE) is still an incompletely defined CNS disorder affecting children. Recent studies of muscle in two male children, ages 7 months and 4 years (at the onset) revealed previously undescribed histological and histo-chemical changes. There were two distinctly separate populations of muscle fibers, large polygonal type I fibers and
Jerry L Simmons, Richard J Allen
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Leigh syndrome global patient registry: uniting patients and researchers worldwide
Orphanet Journal of Rare Diseases, 2023 Background Leigh Syndrome (LS) is a rare genetic neurometabolic disorder, that leads to the degeneration of the central nervous system and subsequently, early death. LS can be caused by over 80 mutations in mitochondrial or nuclear DNA.
Sophia Zilber +10 more
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