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Page 1
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome.
Manzoni E, Carli S, Gaignard P, Schlieben LD, Hirano M, Ronchi D, Gonzales E, Shimura M, Murayama K, Okazaki Y, Barić I, Petkovic Ramadza D, Karall D, Mayr J, Martinelli D, La Morgia C, Primiano G, Santer R, Servidei S, Bris C, Cano A, Furlan F, Gasperini S, Laborde N, Lamperti C, Lenz D, Mancuso M, Montano V, Menni F, Musumeci O, Nesbitt V, Procopio E, Rouzier C, Staufner C, Taanman JW, Tal G, Ticci C, Cordelli DM, Carelli V, Procaccio V, Prokisch H, Garone C. Manzoni E, et al. Among authors: rouzier c. Brain Commun. 2024 May 6;6(3):fcae160. doi: 10.1093/braincomms/fcae160. eCollection 2024. Brain Commun. 2024. PMID: 38756539 Free PMC article.
Reply: CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis.
Bannwarth S, Ait-El-Mkadem S, Chaussenot A, Genin EC, Lacas-Gervais S, Fragaki K, Berg-Alonso L, Kageyama Y, Serre V, Moore D, Verschueren A, Rouzier C, Le Ber I, Augé G, Cochaud C, Lespinasse F, N'Guyen K, de Septenville A, Brice A, Yu-Wai-Man P, Sesaki H, Pouget J, Paquis-Flucklinger V. Bannwarth S, et al. Among authors: rouzier c. Brain. 2015 Aug;138(Pt 8):e373. doi: 10.1093/brain/awu385. Epub 2015 Jan 8. Brain. 2015. PMID: 25576309 Free PMC article. No abstract available.
A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions.
Rouzier C, Moore D, Delorme C, Lacas-Gervais S, Ait-El-Mkadem S, Fragaki K, Burté F, Serre V, Bannwarth S, Chaussenot A, Catala M, Yu-Wai-Man P, Paquis-Flucklinger V. Rouzier C, et al. Hum Mol Genet. 2017 May 1;26(9):1786. doi: 10.1093/hmg/ddx130. Hum Mol Genet. 2017. PMID: 28475771 Free PMC article. No abstract available.
[Lumbar epidural lipomatosis].
Husson H, Rouzier C, Ammar N, de Broucker T. Husson H, et al. Among authors: rouzier c. Rev Neurol (Paris). 2004 Jul;160(6-7):736-8. doi: 10.1016/s0035-3787(04)71028-0. Rev Neurol (Paris). 2004. PMID: 15247867 French. No abstract available.
[Malignant externa otitis].
Sangla S, Rouzier C, Lacombe H, de Broucker T. Sangla S, et al. Among authors: rouzier c. Rev Neurol (Paris). 2003 Jan;159(1):111-3. Rev Neurol (Paris). 2003. PMID: 12618662 French. No abstract available.
Extragestational βHCG secretion due to an isolated lung epithelioid trophoblastic tumor: microsatellite genotyping of tumoral cells confirmed their placental origin and oriented specific chemotherapy.
Fénichel P, Rouzier C, Butori C, Chevallier P, Poullot AG, Thyss A, Mouroux J. Fénichel P, et al. Among authors: rouzier c. J Clin Endocrinol Metab. 2014 Oct;99(10):3515-20. doi: 10.1210/jc.2014-1460. Epub 2014 Jul 16. J Clin Endocrinol Metab. 2014. PMID: 25029419
Neurologic features and genotype-phenotype correlation in Wolfram syndrome.
Chaussenot A, Bannwarth S, Rouzier C, Vialettes B, Mkadem SA, Chabrol B, Cano A, Labauge P, Paquis-Flucklinger V. Chaussenot A, et al. Among authors: rouzier c. Ann Neurol. 2011 Mar;69(3):501-8. doi: 10.1002/ana.22160. Epub 2010 Dec 28. Ann Neurol. 2011. PMID: 21446023
61 results