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268 results

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Page 1
Acute urinary retention due to a novel collagen COL4A1 mutation.
Rouaud T, Labauge P, Tournier Lasserve E, Mine M, Coustans M, Deburghgraeve V, Edan G. Rouaud T, et al. Among authors: mine m. Neurology. 2010 Aug 24;75(8):747-9. doi: 10.1212/WNL.0b013e3181eee440. Neurology. 2010. PMID: 20733150 No abstract available.
COL4A1 mutation revealed by an isolated brain hemorrhage.
Corlobe A, Tournier-Lasserve E, Mine M, Menjot de Champfleur N, Carra Dalliere C, Ayrignac X, Labauge P, Arquizan C. Corlobe A, et al. Among authors: mine m. Cerebrovasc Dis. 2013;35(6):593-4. doi: 10.1159/000351520. Epub 2013 Jul 10. Cerebrovasc Dis. 2013. PMID: 23860004 No abstract available.
Further refinement of COL4A1 and COL4A2 related cortical malformations.
Cavallin M, Mine M, Philbert M, Boddaert N, Lepage JM, Coste T, Lopez-Gonzalez V, Sanchez-Soler MJ, Ballesta-Martínez MJ, Remerand G, Pasquier L, Guët A, Chelly J, Lascelles K, Prieto-Morin C, Kossorotoff M, Tournier Lasserve E, Bahi-Buisson N. Cavallin M, et al. Among authors: mine m. Eur J Med Genet. 2018 Dec;61(12):765-772. doi: 10.1016/j.ejmg.2018.10.004. Epub 2018 Oct 11. Eur J Med Genet. 2018. PMID: 30315939
Fetal intracerebral hemorrhage and cataract: think COL4A1.
Colin E, Sentilhes L, Sarfati A, Mine M, Guichet A, Ploton C, Boussion F, Delorme B, Tournier-Lasserve E, Bonneau D. Colin E, et al. Among authors: mine m. J Perinatol. 2014 Jan;34(1):75-7. doi: 10.1038/jp.2013.135. J Perinatol. 2014. PMID: 24374867
A novel hereditary extensive vascular leukoencephalopathy mapping to chromosome 20q13.
Hervé D, Chabriat H, Rigal M, Dalloz MA, Kawkabani Marchini A, De Lepeleire J, Fontaine B, Ceuterick-de Groote C, Alili N, Mine M, Delaforge A, Bousser MG, Guichard JP, Martin JJ, Gray F, Tournier-Lasserve E. Hervé D, et al. Among authors: mine m. Neurology. 2012 Dec 4;79(23):2283-7. doi: 10.1212/WNL.0b013e3182768954. Epub 2012 Nov 21. Neurology. 2012. PMID: 23175731
APP Mutations in Cerebral Amyloid Angiopathy with or without Cortical Calcifications: Report of Three Families and a Literature Review.
Sellal F, Wallon D, Martinez-Almoyna L, Marelli C, Dhar A, Oesterlé H, Rovelet-Lecrux A, Rousseau S, Kourkoulis CE, Rosand J, DiPucchio ZY, Frosch M, Gombert C, Audoin B, Miné M, Riant F, Frebourg T, Hannequin D, Campion D, Greenberg SM, Tournier-Lasserve E, Nicolas G. Sellal F, et al. Among authors: mine m. J Alzheimers Dis. 2017;56(1):37-46. doi: 10.3233/JAD-160709. J Alzheimers Dis. 2017. PMID: 27858710 Review.
268 results