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FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation.
Montealegre S, Lebigot E, Debruge H, Romero N, Héron B, Gaignard P, Legendre A, Imbard A, Gobin S, Lacène E, Nusbaum P, Hubas A, Desguerre I, Servais A, Laforêt P, van Endert P, Authier FJ, Gitiaux C, de Lonlay P. Montealegre S, et al. Among authors: gitiaux c. Neurol Genet. 2022 Jan 19;8(1):e648. doi: 10.1212/NXG.0000000000000648. eCollection 2022 Feb. Neurol Genet. 2022. PMID: 35079622 Free PMC article.
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients.
Panagiotakaki E, De Grandis E, Stagnaro M, Heinzen EL, Fons C, Sisodiya S, de Vries B, Goubau C, Weckhuysen S, Kemlink D, Scheffer I, Lesca G, Rabilloud M, Klich A, Ramirez-Camacho A, Ulate-Campos A, Campistol J, Giannotta M, Moutard ML, Doummar D, Hubsch-Bonneaud C, Jaffer F, Cross H, Gurrieri F, Tiziano D, Nevsimalova S, Nicole S, Neville B, van den Maagdenberg AM, Mikati M, Goldstein DB, Vavassori R, Arzimanoglou A; Italian IBAHC Consortium; French AHC Consortium; International AHC Consortium. Panagiotakaki E, et al. Orphanet J Rare Dis. 2015 Sep 26;10:123. doi: 10.1186/s13023-015-0335-5. Orphanet J Rare Dis. 2015. PMID: 26410222 Free PMC article.
TIF1-gamma IgG2 isotype is not associated with malignancy in juvenile dermatomyositis patients.
Nguyen HD, Jouen F, Déchelotte B, Cordel N, Gitiaux C, Bodemer C, Quatier P, Belot A, O'Brien K, Cancemi D, Melki I, Fabien N, Tansley S, Boyer O, Wedderburn LR, Bader-Meunier B; UK JDM Cohort and Biomarker study. Nguyen HD, et al. Among authors: gitiaux c. Rheumatology (Oxford). 2024 Mar 18:keae182. doi: 10.1093/rheumatology/keae182. Online ahead of print. Rheumatology (Oxford). 2024. PMID: 38498839 No abstract available.
Misleading behavioural phenotype with adenylosuccinate lyase deficiency.
Gitiaux C, Ceballos-Picot I, Marie S, Valayannopoulos V, Rio M, Verrieres S, Benoist JF, Vincent MF, Desguerre I, Bahi-Buisson N. Gitiaux C, et al. Eur J Hum Genet. 2009 Jan;17(1):133-6. doi: 10.1038/ejhg.2008.174. Epub 2008 Oct 1. Eur J Hum Genet. 2009. PMID: 18830228 Free PMC article.
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: gitiaux 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.
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