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1970 1
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1988 5
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1990 5
1991 3
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1993 8
1994 9
1995 4
1996 5
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1999 12
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2003 10
2004 7
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2007 15
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421 results

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Page 1
Leigh syndrome.
Rahman S. Rahman S. Handb Clin Neurol. 2023;194:43-63. doi: 10.1016/B978-0-12-821751-1.00015-4. Handb Clin Neurol. 2023. PMID: 36813320 Review.
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 …
Leigh syndrome, or subacute necrotizing encephalomyelopathy, was initially recognized as a neuropathological entity in 1951. B …
A guide to diagnosis and treatment of Leigh syndrome.
Baertling F, Rodenburg RJ, Schaper J, Smeitink JA, Koopman WJ, Mayatepek E, Morava E, Distelmaier F. Baertling F, et al. J Neurol Neurosurg Psychiatry. 2014 Mar;85(3):257-65. doi: 10.1136/jnnp-2012-304426. Epub 2013 Jun 14. J Neurol Neurosurg Psychiatry. 2014. PMID: 23772060 Review.
Leigh syndrome is a devastating neurodegenerative disease, typically manifesting in infancy or early childhood. ...Here, we review the most important clinical aspects of Leigh syndrome, and discuss diagnostic steps as well as treatment options.. …
Leigh syndrome is a devastating neurodegenerative disease, typically manifesting in infancy or early childhood. ...Here …
Ndufs4 knockout mouse models of Leigh syndrome: pathophysiology and intervention.
van de Wal MAE, Adjobo-Hermans MJW, Keijer J, Schirris TJJ, Homberg JR, Wieckowski MR, Grefte S, van Schothorst EM, van Karnebeek C, Quintana A, Koopman WJH. van de Wal MAE, et al. Brain. 2022 Mar 29;145(1):45-63. doi: 10.1093/brain/awab426. Brain. 2022. PMID: 34849584 Free PMC article. Review.
Mutations in the nuclear DNA-encoded NDUFS4 gene, encoding the NADH:ubiquinone oxidoreductase subunit S4 (NDUFS4) of complex I, induce 'mitochondrial complex I deficiency, nuclear type 1' (MC1DN1) and Leigh syndrome in paediatric patients. A variety of (tissue-speci …
Mutations in the nuclear DNA-encoded NDUFS4 gene, encoding the NADH:ubiquinone oxidoreductase subunit S4 (NDUFS4) of complex I, induce 'mito …
Mitochondrial Retinopathies.
Zeviani M, Carelli V. Zeviani M, et al. Int J Mol Sci. 2021 Dec 25;23(1):210. doi: 10.3390/ijms23010210. Int J Mol Sci. 2021. PMID: 35008635 Free PMC article. Review.
The main genetic abnormalities of mtDNA include mutations associated with neurogenic muscle weakness, ataxia and retinitis pigmentosa (NARP) sometimes with earlier onset and increased severity (maternally inherited Leigh syndrome, MILS), single large-scale deletions …
The main genetic abnormalities of mtDNA include mutations associated with neurogenic muscle weakness, ataxia and retinitis pigmentosa (NARP) …
Mitochondrial Epilepsy, a Challenge for Neurologists.
Lopriore P, Gomes F, Montano V, Siciliano G, Mancuso M. Lopriore P, et al. Int J Mol Sci. 2022 Oct 30;23(21):13216. doi: 10.3390/ijms232113216. Int J Mol Sci. 2022. PMID: 36362003 Free PMC article. Review.
Epilepsy affects >1% of the worldwide population, making it one of the most common neurological illnesses; it may be the presenting feature of a mitochondrial disease, but is often part of a multisystem clinical presentation. ...
Epilepsy affects >1% of the worldwide population, making it one of the most common neurological illnesses; it may be the presenting featu …
Leigh syndrome: One disorder, more than 75 monogenic causes.
Lake NJ, Compton AG, Rahman S, Thorburn DR. Lake NJ, et al. Ann Neurol. 2016 Feb;79(2):190-203. doi: 10.1002/ana.24551. Epub 2015 Dec 15. Ann Neurol. 2016. PMID: 26506407 Free article. Review.
Leigh syndrome is the most common pediatric presentation of mitochondrial disease. ...We review the diverse biochemical and genetic etiology of Leigh syndrome and associated clinical, neuroradiological, and metabolic features that can provide cl …
Leigh syndrome is the most common pediatric presentation of mitochondrial disease. ...We review the diverse biochemical …
Molecular basis of Leigh syndrome: a current look.
Schubert Baldo M, Vilarinho L. Schubert Baldo M, et al. Orphanet J Rare Dis. 2020 Jan 29;15(1):31. doi: 10.1186/s13023-020-1297-9. Orphanet J Rare Dis. 2020. PMID: 31996241 Free PMC article. Review.
Leigh Syndrome (OMIM 256000) is a heterogeneous neurologic disorder due to damage in mitochondrial energy production that usually starts in early childhood. ...NGS provided confirmation of emerging cases and brought up diagnosis in atypical presentations as late-ons …
Leigh Syndrome (OMIM 256000) is a heterogeneous neurologic disorder due to damage in mitochondrial energy production that usua …
Global, regional, and national incidence, prevalence, and years lived with disability for 301 acute and chronic diseases and injuries in 188 countries, 1990-2013: a systematic analysis for the Global Burden of Disease Study 2013.
Global Burden of Disease Study 2013 Collaborators. Global Burden of Disease Study 2013 Collaborators. Lancet. 2015 Aug 22;386(9995):743-800. doi: 10.1016/S0140-6736(15)60692-4. Epub 2015 Jun 7. Lancet. 2015. PMID: 26063472 Free PMC article. Review.
In the Global Burden of Disease Study 2013 (GBD 2013), we estimated these quantities for acute and chronic diseases and injuries for 188 countries between 1990 and 2013. METHODS: Estimates were calculated for disease and injury incidence, prevalence, and YLDs using …
In the Global Burden of Disease Study 2013 (GBD 2013), we estimated these quantities for acute and chronic diseases and injuries for …
MELAS: Phenotype Classification into Classic-versus-Atypical Presentations.
Alves CAPF, Zandifar A, Peterson JT, Tara SZ, Ganetzky R, Viaene AN, Andronikou S, Falk MJ, Vossough A, Goldstein AC. Alves CAPF, et al. AJNR Am J Neuroradiol. 2023 May;44(5):602-610. doi: 10.3174/ajnr.A7837. Epub 2023 Apr 6. AJNR Am J Neuroradiol. 2023. PMID: 37024306 Review.
After experts reviewed the variables, they selected 8 victory-variables with the greatest impact in determining the MELAS subgroups: developmental delay, sensorineural hearing loss, vision loss in the first strokelike episode, Leigh syndrome overlap, age at the firs …
After experts reviewed the variables, they selected 8 victory-variables with the greatest impact in determining the MELAS subgroups: develop …
Motile ciliopathies.
Wallmeier J, Nielsen KG, Kuehni CE, Lucas JS, Leigh MW, Zariwala MA, Omran H. Wallmeier J, et al. Nat Rev Dis Primers. 2020 Sep 17;6(1):77. doi: 10.1038/s41572-020-0209-6. Nat Rev Dis Primers. 2020. PMID: 32943623 Review.
The pathogenetic mechanisms, clinical symptoms and severity of the disease depend on the specific affected genes and the tissues in which they are expressed. ...
The pathogenetic mechanisms, clinical symptoms and severity of the disease depend on the specific affected genes and the tissues in w …
421 results