Results 161 to 170 of about 50,342 (212)
WDR45-related encephalopathy mimicking Leigh syndrome associated with complex I deficiency: a case report. [PDF]
Eur J Hum GenetFerrera G +8 more
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Primary cilia formation requires the Leigh syndrome-associated mitochondrial protein NDUFAF2. [PDF]
J Clin InvestLo CH +12 more
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Leigh Syndrome Caused by Compound Heterozygous Variants c.1162A_C and c.1138G_C in the NDUFV1 Gene: A Case Report. [PDF]
CureusFinsterer J.
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The Indian Journal of Pediatrics, 2004
A 15-month-old female child presented with sudden onset cough and hyperventilation along with evidence of metabolic acidosis. She had past history of recurrent vomiting, episodes of abnormal posturing, difficulty in deglutition and regression of milestones since 12 months of age.
A A S R, Mannan +6 more
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A 15-month-old female child presented with sudden onset cough and hyperventilation along with evidence of metabolic acidosis. She had past history of recurrent vomiting, episodes of abnormal posturing, difficulty in deglutition and regression of milestones since 12 months of age.
A A S R, Mannan +6 more
openaire +2 more sources
2023
Leigh syndrome, or subacute necrotizing encephalomyelopathy, was initially recognized as a neuropathological entity in 1951. Bilateral symmetrical lesions, typically extending from the basal ganglia and thalamus through brainstem structures to the posterior columns of the spinal cord, are characterized microscopically by capillary proliferation ...
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Leigh syndrome, or subacute necrotizing encephalomyelopathy, was initially recognized as a neuropathological entity in 1951. Bilateral symmetrical lesions, typically extending from the basal ganglia and thalamus through brainstem structures to the posterior columns of the spinal cord, are characterized microscopically by capillary proliferation ...
openaire +2 more sources
Maternally inherited Leigh syndrome
The Journal of Pediatrics, 1993A 6 1/2-year-old girl had developmental regression, and Leigh syndrome was diagnosed. A second girl born to the same mother after heterologous artificial insemination also lost acquired skills and died at 2 1/2 years of age; neuropathologic examination confirmed the diagnosis of Leigh syndrome. Tissues from both children and from the mother had a point
E, Ciafaloni +7 more
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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
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Leigh syndrome associated with West syndrome
Brain and Development, 2003Leigh syndrome (LS) (sub-acute necrotizing encephalomyelopathy) is characterized by symmetric brain lesions occurring mainly in the basal ganglia and associated with variable clinical manifestations such as hypotonia, psychomotor retardation, and feeding difficulties. Patients with LS may develop seizures.
Masahiro, Tsuji +6 more
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