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62 results

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Page 1
Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy.
Gerber S, Lessard L, Rouzier C, Ait-El-Mkadem Saadi S, Ameli R, Thobois S, Abouaf L, Bouhour F, Kaplan J, Putoux A, Pegat A, Rozet JM. Gerber S, et al. Among authors: rouzier c. EMBO Mol Med. 2023 Aug 7;15(8):e16090. doi: 10.15252/emmm.202216090. Epub 2023 Jul 11. EMBO Mol Med. 2023. PMID: 37431816 Free PMC article.
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
[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.
Reply: Mutations in the CHCHD10 gene are a common cause of familial 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. 2014 Dec;137(Pt 12):e312. doi: 10.1093/brain/awu267. Epub 2014 Sep 26. Brain. 2014. PMID: 25261971 Free PMC article. No abstract available.
Reply: Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease.
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. 2014 Dec;137(Pt 12):e310. doi: 10.1093/brain/awu228. Epub 2014 Aug 11. Brain. 2014. PMID: 25113788 Free PMC article. No abstract available.
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.
Ait-El-Mkadem S, Dayem-Quere M, Gusic M, Chaussenot A, Bannwarth S, François B, Genin EC, Fragaki K, Volker-Touw CLM, Vasnier C, Serre V, van Gassen KLI, Lespinasse F, Richter S, Eisenhofer G, Rouzier C, Mochel F, De Saint-Martin A, Abi Warde MT, de Sain-van der Velde MGM, Jans JJM, Amiel J, Avsec Z, Mertes C, Haack TB, Strom T, Meitinger T, Bonnen PE, Taylor RW, Gagneur J, van Hasselt PM, Rötig A, Delahodde A, Prokisch H, Fuchs SA, Paquis-Flucklinger V. Ait-El-Mkadem S, et al. Among authors: rouzier c. Am J Hum Genet. 2017 Jan 5;100(1):151-159. doi: 10.1016/j.ajhg.2016.11.014. Epub 2016 Dec 15. Am J Hum Genet. 2017. PMID: 27989324 Free PMC article.
[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.
62 results