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A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity.
Tchikviladzé M, Gilleron M, Maisonobe T, Galanaud D, Laforêt P, Durr A, Eymard B, Mochel F, Ogier H, Béhin A, Stojkovic T, Degos B, Gourfinkel-An I, Sedel F, Anheim M, Elbaz A, Viala K, Vidailhet M, Brice A, Jardel C, Lombès A. Tchikviladzé M, et al. Among authors: sedel f. J Neurol Neurosurg Psychiatry. 2015 Jun;86(6):646-54. doi: 10.1136/jnnp-2013-306799. Epub 2014 Aug 11. J Neurol Neurosurg Psychiatry. 2015. PMID: 25118206
POLG mutations associated with remitting/relapsing neurological events.
Degos B, Laforêt P, Jardel C, Sedel F, Jossay-Winter M, Romero NB, Lyon-Caen O, Tourbah A. Degos B, et al. Among authors: sedel f. J Clin Neurosci. 2014 Jan;21(1):186-8. doi: 10.1016/j.jocn.2013.03.019. Epub 2013 Jul 2. J Clin Neurosci. 2014. PMID: 23830586
Targeted versus untargeted omics - the CAFSA story.
Del Mar Amador M, Colsch B, Lamari F, Jardel C, Ichou F, Rastetter A, Sedel F, Jourdan F, Frainay C, Wevers RA, Roze E, Depienne C, Junot C, Mochel F. Del Mar Amador M, et al. Among authors: sedel f. J Inherit Metab Dis. 2018 May;41(3):447-456. doi: 10.1007/s10545-017-0134-3. Epub 2018 Feb 8. J Inherit Metab Dis. 2018. PMID: 29423831
FXTAS: new insights and the need for revised diagnostic criteria.
Apartis E, Blancher A, Meissner WG, Guyant-Maréchal L, Maltête D, De Broucker T, Legrand AP, Bouzenada H, Thanh HT, Sallansonnet-Froment M, Wang A, Tison F, Roué-Jagot C, Sedel F, Charles P, Whalen S, Héron D, Thobois S, Poisson A, Lesca G, Ouvrard-Hernandez AM, Fraix V, Palfi S, Habert MO, Gaymard B, Dussaule JC, Pollak P, Vidailhet M, Durr A, Barbot JC, Gourlet V, Brice A, Anheim M. Apartis E, et al. Among authors: sedel f. Neurology. 2012 Oct 30;79(18):1898-907. doi: 10.1212/WNL.0b013e318271f7ff. Epub 2012 Oct 17. Neurology. 2012. PMID: 23077007
Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene.
Guerreiro R, Kara E, Le Ber I, Bras J, Rohrer JD, Taipa R, Lashley T, Dupuits C, Gurunlian N, Mochel F, Warren JD, Hannequin D, Sedel F, Depienne C, Camuzat A, Golfier V, Du Boisguéheneuc F, Schottlaender L, Fox NC, Beck J, Mead S, Rossor MN, Hardy J, Revesz T, Brice A, Houlden H. Guerreiro R, et al. Among authors: sedel f. JAMA Neurol. 2013 Jul;70(7):875-882. doi: 10.1001/jamaneurol.2013.698. JAMA Neurol. 2013. PMID: 23649896 Free PMC article.
Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study.
Depienne C, Bugiani M, Dupuits C, Galanaud D, Touitou V, Postma N, van Berkel C, Polder E, Tollard E, Darios F, Brice A, de Die-Smulders CE, Vles JS, Vanderver A, Uziel G, Yalcinkaya C, Frints SG, Kalscheuer VM, Klooster J, Kamermans M, Abbink TE, Wolf NI, Sedel F, van der Knaap MS. Depienne C, et al. Among authors: sedel f. Lancet Neurol. 2013 Jul;12(7):659-68. doi: 10.1016/S1474-4422(13)70053-X. Epub 2013 May 22. Lancet Neurol. 2013. PMID: 23707145 Free article.
107 results