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Page 1
Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients.
Molenaar JP, Verhoeven JI, Rodenburg RJ, Kamsteeg EJ, Erasmus CE, Vicart S, Behin A, Bassez G, Magot A, Péréon Y, Brandom BW, Guglielmi V, Vattemi G, Chevessier F, Mathieu J, Franques J, Suetterlin K, Hanna MG, Guyant-Marechal L, Snoeck MM, Roberts ME, Kuntzer T, Fernandez-Torron R, Martínez-Arroyo A, Seeger J, Kusters B, Treves S, van Engelen BG, Eymard B, Voermans NC, Sternberg D. Molenaar JP, et al. Brain. 2020 Feb 1;143(2):452-466. doi: 10.1093/brain/awz410. Brain. 2020. PMID: 32040565 Free PMC article.
Myoclonus-dystonia: clinical and electrophysiologic pattern related to SGCE mutations.
Roze E, Apartis E, Clot F, Dorison N, Thobois S, Guyant-Marechal L, Tranchant C, Damier P, Doummar D, Bahi-Buisson N, André-Obadia N, Maltete D, Echaniz-Laguna A, Pereon Y, Beaugendre Y, Dupont S, De Greslan T, Jedynak CP, Ponsot G, Dussaule JC, Brice A, Dürr A, Vidailhet M. Roze E, et al. Neurology. 2008 Mar 25;70(13):1010-6. doi: 10.1212/01.wnl.0000297516.98574.c0. Neurology. 2008. PMID: 18362280
Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification.
Nicolas G, Pottier C, Charbonnier C, Guyant-Maréchal L, Le Ber I, Pariente J, Labauge P, Ayrignac X, Defebvre L, Maltête D, Martinaud O, Lefaucheur R, Guillin O, Wallon D, Chaumette B, Rondepierre P, Derache N, Fromager G, Schaeffer S, Krystkowiak P, Verny C, Jurici S, Sauvée M, Vérin M, Lebouvier T, Rouaud O, Thauvin-Robinet C, Rousseau S, Rovelet-Lecrux A, Frebourg T, Campion D, Hannequin D; French IBGC Study Group. Nicolas G, et al. Brain. 2013 Nov;136(Pt 11):3395-407. doi: 10.1093/brain/awt255. Epub 2013 Sep 24. Brain. 2013. PMID: 24065723
Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients.
Ayrignac X, Carra-Dalliere C, Menjot de Champfleur N, Denier C, Aubourg P, Bellesme C, Castelnovo G, Pelletier J, Audoin B, Kaphan E, de Seze J, Collongues N, Blanc F, Chanson JB, Magnin E, Berger E, Vukusic S, Durand-Dubief F, Camdessanche JP, Cohen M, Lebrun-Frenay C, Brassat D, Clanet M, Vermersch P, Zephir H, Outteryck O, Wiertlewski S, Laplaud DA, Ouallet JC, Brochet B, Goizet C, Debouverie M, Pittion S, Edan G, Deburghgraeve V, Le Page E, Verny C, Amati-Bonneau P, Bonneau D, Hannequin D, Guyant-Maréchal L, Derache N, Defer GL, Moreau T, Giroud M, Guennoc AM, Clavelou P, Taithe F, Mathis S, Neau JP, Magy L, Devoize JL, Bataillard M, Masliah-Planchon J, Dorboz I, Tournier-Lasserve E, Levade T, Boespflug Tanguy O, Labauge P. Ayrignac X, et al. Brain. 2015 Feb;138(Pt 2):284-92. doi: 10.1093/brain/awu353. Epub 2014 Dec 19. Brain. 2015. PMID: 25527826
The wide POLG-related spectrum: An integrated view.
Béreau M, Anheim M, Echaniz-Laguna A, Magot A, Verny C, Goideau-Sevrain M, Barth M, Amati-Bonneau P, Allouche S, Ayrignac X, Bédat-Millet AL, Guyant-Maréchal L, Kuntzer T, Ochsner F, Petiot P, Vial C, Omer S, Sole G, Taieb G, Carvalho N, Tio G, Kremer S, Acquaviva-Bourdain C, de Camaret BM, Tranchant C. Béreau M, et al. J Neurol Sci. 2016 Sep 15;368:70-6. doi: 10.1016/j.jns.2016.06.062. Epub 2016 Jun 29. J Neurol Sci. 2016. PMID: 27538604 No abstract available.
Phenotype associated with APP duplication in five families.
Cabrejo L, Guyant-Maréchal L, Laquerrière A, Vercelletto M, De la Fournière F, Thomas-Antérion C, Verny C, Letournel F, Pasquier F, Vital A, Checler F, Frebourg T, Campion D, Hannequin D. Cabrejo L, et al. Brain. 2006 Nov;129(Pt 11):2966-76. doi: 10.1093/brain/awl237. Epub 2006 Sep 7. Brain. 2006. PMID: 16959815
Variations in the APP gene promoter region and risk of Alzheimer disease.
Guyant-Maréchal L, Rovelet-Lecrux A, Goumidi L, Cousin E, Hannequin D, Raux G, Penet C, Ricard S, Macé S, Amouyel P, Deleuze JF, Frebourg T, Brice A, Lambert JC, Campion D. Guyant-Maréchal L, et al. Neurology. 2007 Feb 27;68(9):684-7. doi: 10.1212/01.wnl.0000255938.33739.46. Neurology. 2007. PMID: 17325276
73 results