Results 171 to 180 of about 15,339 (211)
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Human Genetics, 1982
Two male half siblings developed rapid progression of neurologic symptoms at 11/2 and 21/2 years of age. Neither boy had a metabolic acidosis. Characteristic features of subacute necrotizing encephalomyelopathy, the neuropathologic basis of Leigh's syndrome, were demonstrated at autopsy.
P J, Benke +4 more
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Two male half siblings developed rapid progression of neurologic symptoms at 11/2 and 21/2 years of age. Neither boy had a metabolic acidosis. Characteristic features of subacute necrotizing encephalomyelopathy, the neuropathologic basis of Leigh's syndrome, were demonstrated at autopsy.
P J, Benke +4 more
openaire +2 more sources
Harefuah, 1989
Leigh's syndrome is a degenerative nervous system disorder with well-characterized neuropathology. The clinical picture shows progressive neurologic deterioration in infancy leading to death from respiratory arrest. Mitochondrial enzymatic deficiencies are implicated in the pathogenesis of the disease.
T, Lerman-Sagie, M, Mukamel, M, Mimouni
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Leigh's syndrome is a degenerative nervous system disorder with well-characterized neuropathology. The clinical picture shows progressive neurologic deterioration in infancy leading to death from respiratory arrest. Mitochondrial enzymatic deficiencies are implicated in the pathogenesis of the disease.
T, Lerman-Sagie, M, Mukamel, M, Mimouni
openaire +1 more source
Heterogeneous presentation in Leigh syndrome
Journal of Inherited Metabolic Disease, 1997Heterogeneous presentation in Leigh syndrome L. Vilarinho1,2*, C. Maia3, T. Coelho4, P. Coutinho4 and F. M. Santorelli2 1Department of Clinical Biology, Instituto de Genetica Medica, Porto, Portugal; 2Department of Neurology, College of Physicians & Surgeons, Columbia University, New York, NY, USA; 3Department of Pediatrics, Hospital S. Januario, Macau;
L, Vilarinho +4 more
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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
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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
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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
DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome
Brain, 2022Sarah L Stenton +2 more
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Molecular Therapy - Methods and Clinical Development, 2021
Qinglan Ling, Matthew Rioux, Yuhui Hu
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Qinglan Ling, Matthew Rioux, Yuhui Hu
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