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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.
Mitochondrial DNA point mutation T9176C in Leigh syndrome.
Wilson CJ, Wood NW, Leonard JV, Surtees R, Rahman S. Wilson CJ, et al. Among authors: rahman s. J Child Neurol. 2000 Dec;15(12):830-3. doi: 10.1177/088307380001501218. J Child Neurol. 2000. PMID: 11198506
Treatable Leigh-like encephalopathy presenting in adolescence.
Fassone E, Wedatilake Y, DeVile CJ, Chong WK, Carr LJ, Rahman S. Fassone E, et al. Among authors: rahman s. BMJ Case Rep. 2013 Oct 7;2013:200838. doi: 10.1136/bcr-2013-200838. BMJ Case Rep. 2013. PMID: 24099834 Free PMC article.
HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase.
Ferdinandusse S, Waterham HR, Heales SJ, Brown GK, Hargreaves IP, Taanman JW, Gunny R, Abulhoul L, Wanders RJ, Clayton PT, Leonard JV, Rahman S. Ferdinandusse S, et al. Among authors: rahman s. Orphanet J Rare Dis. 2013 Dec 4;8:188. doi: 10.1186/1750-1172-8-188. Orphanet J Rare Dis. 2013. PMID: 24299452 Free PMC article.
Leigh syndrome: One disorder, more than 75 monogenic causes.
Lake NJ, Compton AG, Rahman S, Thorburn DR. Lake NJ, et al. Among authors: rahman s. 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.
Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum.
McCormick EM, Keller K, Taylor JP, Coffey AJ, Shen L, Krotoski D, Harding B; NICHD ClinGen U24 Mitochondrial Disease Gene Curation Expert Panel; Gai X, Falk MJ, Zolkipli-Cunningham Z, Rahman S. McCormick EM, et al. Among authors: rahman s. Ann Neurol. 2023 Oct;94(4):696-712. doi: 10.1002/ana.26716. Epub 2023 Aug 12. Ann Neurol. 2023. PMID: 37255483 Free PMC article.
4,672 results