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Page 1
Uniparental IsoDisomy: a case study on a new mechanism of Friedreich ataxia.
Sperelakis-Beedham B, Gitiaux C, Rajaoba M, Magen M, Derive N, Chansard J, de Sainte Agathe JM, Maurin ML, Assouline Z, Barnerias C, Desguerre I, Steffann J, Barcia G. Sperelakis-Beedham B, et al. Among authors: barnerias c. Eur J Hum Genet. 2025 Jan;33(1):137-140. doi: 10.1038/s41431-024-01728-2. Epub 2024 Nov 4. Eur J Hum Genet. 2025. PMID: 39496895
Respiratory chain deficiency in a female with Aicardi-Goutières syndrome.
Barnérias C, Giurgea I, Hertz-Pannier L, Bahi-Buisson N, Boddaert N, Rustin P, Rotig A, Desguerre I, Munnich A, de Lonlay P. Barnérias C, et al. Dev Med Child Neurol. 2006 Mar;48(3):227-30. doi: 10.1017/S001216220600048X. Dev Med Child Neurol. 2006. PMID: 16483401 Free article.
Epilepsy in Menkes disease: analysis of clinical stages.
Bahi-Buisson N, Kaminska A, Nabbout R, Barnerias C, Desguerre I, De Lonlay P, Mayer M, Plouin P, Dulac O, Chiron C. Bahi-Buisson N, et al. Among authors: barnerias c. Epilepsia. 2006 Feb;47(2):380-6. doi: 10.1111/j.1528-1167.2006.00432.x. Epilepsia. 2006. PMID: 16499764 Free article.
Unusual magnetic resonance imaging features in Menkes disease.
Barnerias C, Boddaert N, Guiraud P, Desguerre I, Hertz Pannier L, Dulac O, de Lonlay P, Bahi Buisson N. Barnerias C, et al. Brain Dev. 2008 Aug;30(7):489-92. doi: 10.1016/j.braindev.2007.12.014. Epub 2008 Feb 19. Brain Dev. 2008. PMID: 18243619
A cognitive and affective pattern in posterior fossa strokes in children: a case series.
Kossorotoff M, Gonin-Flambois C, Gitiaux C, Quijano S, Boddaert N, Bahi-Buisson N, Barnerias C, Dulac O, Brunelle F, Desguerre I. Kossorotoff M, et al. Among authors: barnerias c. Dev Med Child Neurol. 2010 Jul;52(7):626-31. doi: 10.1111/j.1469-8749.2010.03616.x. Epub 2010 Mar 29. Dev Med Child Neurol. 2010. PMID: 20370817 Free article.
A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndrome.
Assouline Z, Jambou M, Rio M, Bole-Feysot C, de Lonlay P, Barnerias C, Desguerre I, Bonnemains C, Guillermet C, Steffann J, Munnich A, Bonnefont JP, Rötig A, Lebre AS. Assouline Z, et al. Among authors: barnerias c. Biochim Biophys Acta. 2012 Jun;1822(6):1062-9. doi: 10.1016/j.bbadis.2012.01.013. Epub 2012 Feb 3. Biochim Biophys Acta. 2012. PMID: 22326555 Free article.
101 results