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Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant. [PDF]

Brain
Blickhäuser B, Stenton SL, Neuhofer CM, Floride E, Nesbitt V, Fratter C, Koch J, Kauffmann B, Catarino C, Schlieben LD, Kopajtich R, Carelli V, Sadun AA, McFarland R, Fang F, La Morgia C, Paquay S, Nassogne MC, Ghezzi D, Lamperti C, Wortmann S, Poulton J, Klopstock T, Prokisch H.   +23 more
europepmc   +1 more source

Auditory Brainstem Response in a Child with Mitochondrial Disorder-Leigh Syndrome. [PDF]

Indian J Otolaryngol Head Neck Surg
Pooja PS, Greeshma R, Joy EK, Swamy SP.
europepmc   +1 more source

Adult Leigh Syndrome Associated with the m.15635T>C Mitochondrial DNA Variant Affecting the Cytochrome <i>b</i> (<i>MT-CYB</i>) Gene. [PDF]

Int J Mol Sci
Tropeano CV, La Morgia C, Achilli A, Iommarini L, Tioli G, Caporali L, Olivieri A, Valentino ML, Liguori R, Barboni P, Martinuzzi A, Tonon C, Lodi R, Torroni A, Carelli V, Ghelli AM.   +15 more
europepmc   +1 more source

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Leigh syndrome

Handbook of Clinical Neurology, 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 ...
S. Rahman
openaire   +3 more sources

Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations

Annals of Neurology, 2020
The neurodiagnostic criteria of Leigh syndrome have not yet been clearly redefined based on the expanding of molecular etiologies. We aimed to analyze 20 years of clinical, genetic, and magnetic resonance studies from our Leigh syndrome cohort to provide
C. Alves, S. Teixeira, J. S. Martín-Saavedra, F. Gonçalves, F. Lo Russo, C. Muraresku, E. McCormick, Marni J. Falk, Z. Zolkipli-Cunningham, R. Ganetzky, A. Vossough, A. Goldstein, G. Zuccoli   +12 more
semanticscholar   +3 more sources

Genetic heterogeneity in Leigh syndrome: Highlighting treatable and novel genetic causes

Clinical Genetics, 2020
Leigh syndrome (LS), the most common childhood mitochondrial disorder, has characteristic clinical and neuroradiologic features. Mutations in more than 75 genes have been identified in both the mitochondrial and nuclear genome, implicating a high degree ...
Jin Sook Lee, Taekyeong Yoo, Moses Lee, Youngha Lee, Eunyoung Jeon, S. Kim, B. Lim, Ki Joong Kim, Murim Choi, J. Chae   +9 more
semanticscholar   +3 more sources

Leigh and Leigh-Like Syndrome in Children and Adults

Pediatric Neurology, 2008
Leigh syndrome (also termed subacute, necrotizing encephalopathy) is a devastating neurodegenerative disorder, characterized by almost identical brain changes, e.g., focal, bilaterally symmetric lesions, particularly in the basal ganglia, thalamus, and brainstem, but with considerable clinical and genetic heterogeneity.
Josef Finsterer
openaire   +4 more sources