Results 251 to 260 of about 6,089,967 (287)
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Radiology
A 9-month-old preterm male infant born at 33 weeks gestation presented with a 2-month history of developmental decline. The parents reported that over the past several months, they noted regression of milestones, where the infant stopped smiling, crying, expressing himself, or making eye contact.
Bilal Hai +3 more
openaire +2 more sources
A 9-month-old preterm male infant born at 33 weeks gestation presented with a 2-month history of developmental decline. The parents reported that over the past several months, they noted regression of milestones, where the infant stopped smiling, crying, expressing himself, or making eye contact.
Bilal Hai +3 more
openaire +2 more sources
Journal of Neurology, 1984
A 55-year-old man with a subacute onset of slurred speech, ataxia, nystagmus, extrapyramidal rigidity, decreased tendon reflexes, vomiting, bilateral optic atrophy, and clonic jerks died of bronchopneumonia and respiratory failure. Neuropathological examination showed lesions characteristic of subacute necrotizing encephalopathy.
E, Masó +4 more
openaire +2 more sources
A 55-year-old man with a subacute onset of slurred speech, ataxia, nystagmus, extrapyramidal rigidity, decreased tendon reflexes, vomiting, bilateral optic atrophy, and clonic jerks died of bronchopneumonia and respiratory failure. Neuropathological examination showed lesions characteristic of subacute necrotizing encephalopathy.
E, Masó +4 more
openaire +2 more sources
Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome
Journal of Neurology, 2023C. Nesti +8 more
semanticscholar +1 more source
Animal Model for Leigh Syndrome
2019Leigh syndrome (LS) is a common neurodegenerative disease affecting neonates with devastating sequences. One of the characteristic features for LS is the phenotypic polymorphism, which-in part-can be dedicated to variety of genetic causes. A strong correlation with mitochondrial dysfunction has been assumed as the main cause of LS.
Sara, El-Desouky +4 more
openaire +2 more sources
Acarbose suppresses symptoms of mitochondrial disease in a mouse model of Leigh Syndrome
bioRxiv, 2022Alessandro Bitto +17 more
semanticscholar +1 more source