Impact of mutations within the [Fe-S] cluster or the lipoic acid biosynthesis pathways on mitochondrial protein expression profiles in fibroblasts from patients von Lebigot, E., Gaignard, P., Dorboz, I., Slama, A., Rio, M., de Lonlay, P., Héron, B., Sabourdy, F., Boespflug-Tanguy, O., Cardoso, A., Habarou, F., Ottolenghi, C., Thérond, P., Bouton, C., Golinelli-Cohen, M.P., Boutron, A.

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Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French Cases von Codjia, P, Ayrignac, X, Mochel, F, Mouzat, K, Carra-Dalliere, C, Castelnovo, G, Ellie, E, Etcharry-Bouyx, F, Verny, C, Belliard, S, Hannequin, D, Marelli, C, Nadjar, Y, Le Ber, I, Dorboz, I, Samaan, S, Boespflug-Tanguy, O, Lumbroso, S, Labauge, P

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GJA1 Variants Cause Spastic Paraplegia Associated with Cerebral Hypomyelination von Saint-Val, L, Courtin, T, Charles, P, Verny, C, Catala, M, Schiffmann, R, Boespflug-Tanguy, O, Mochel, F

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Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia von Chassaing, N., Causse, A., Vigouroux, A., Delahaye, A., Alessandri, J.-L., Boespflug-Tanguy, O., Boute-Benejean, O., Dollfus, H., Duban-Bedu, B., Gilbert-Dussardier, B., Giuliano, F., Gonzales, M., Holder-Espinasse, M., Isidor, B., Jacquemont, M.-L., Lacombe, D., Martin-Coignard, D., Mathieu-Dramard, M., Odent, S., Picone, O., Pinson, L., Quelin, C., Sigaudy, S., Toutain, A., Thauvin-Robinet, C., Kaplan, Josseline, Calvas, Patrick

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DNA microarray analysis of gene expression in eutopic endometrium from patients with deep endometriosis using laser capture microdissection von Matsuzaki, Sachiko, Canis, Michel, Vaurs-Barrière, Catherine, Boespflug-Tanguy, Odile, Dastugue, Bernard, Mage, Gérard

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The effect of genotype on the natural history of eIF2B-related leukodystrophies von FOGLI, A, SCHIFFMANN, R, SURTEES, R, PUGIN, D, CHAUNU, M.-P, RODRIGUEZ, D, BOESPFLUG-TANGUY, O, BERTINI, E, UGHETTO, S, COMBES, P, EYMARD-PIERRE, E, KANESKI, C. R, PINEDA, M, TRONCOSO, M, UZIEL, G

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DNA microarray analysis of gene expression profiles in deep endometriosis using laser capture microdissection von Matsuzaki, S., Canis, M., Vaurs-Barrière, C., Pouly, J.L., Boespflug-Tanguy, O., Penault-Llorca, F., Dechelotte, P., Dastugue, B., Okamura, K., Mage, G.

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GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease von HENNEKE, M, COMBES, P, BOESPFLUG-TANGUY, O, GÄRTNER, J, DIEKMANN, S, BERTINI, E, BROCKMANN, K, BURLINA, A. P, KAISER, J, OHIENBUSCH, A, PLECKO, B, RODRIGUEZ, D

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Novel neuronal proteolipid protein isoforms encoded by the human myelin proteolipid protein 1 gene von Sarret, C, Combes, P, Micheau, P, Gelot, A, Boespflug-Tanguy, O, Vaurs-Barriere, C

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Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases von Labauge, Pierre, Horzinski, Laetitia, Ayrignac, Xavier, Blanc, Pierre, Vukusic, Sandra, Rodriguez, Diana, Mauguiere, Francois, Peter, Laure, Goizet, Cyril, Bouhour, Francoise, Denier, Christian, Confavreux, Christian, Obadia, Michael, Blanc, Frederic, Sèze, Jérome de, Fogli, Anne, Boespflug-Tanguy, Odile

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Cerebral quantitative DTI and tractography in 25 patients with PLP1-related disorders von Sarret, C, Lemaire, J.J, Sontheimer, A, Coste, J, Pereira, B, Roche, B, Boespflug-Tanguy, O

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Prenatal anti-retroviral exposure: An exploratory study of neurodevelopmental outcome in non-infected 5-years-old children von Pham, A, Rajguru, M, Mouchnino, G, Allal, L, Leveille, S, Boespflug-Tanguy, O, Faye, A, Germanaud, D

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Whole exome sequencing in patients with inherited white matter disorders von Dorboz, I, Renaldo, F, Boussaid, K, Samaan, S, Tonduti, D, Eymard-Pierre, E, Elmaleh, M, Rodriguez, D, Boespflug-Tanguy, O

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REMOVED: Cerebral atrophy is linked to clinical severity and worsens with aging in patients with Pelizaeus–Merzbacher disease and Spastic Paraplegia type 2 von Sarret, C., Lemaire, J.J., Sontheimer, A., Coste, J., Pereira, B., Feschet, F., Roche, B., Renou, J.P., Boespflug-Tanguy, O.

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Alexander disease: putative mechanisms of an astrocytic encephalopathy von Mignot, C, Boespflug-Tanguy, O, Gelot, A, Dautigny, A, Pham-Dinh, D, Rodriguez, D

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Typical cerebellar allometry is disturbed in Fetal Alcohol Spectrum Disorders: Toward new MRI neuroanatomic markers von Garzon, P, Fischer, C, Lefèvre, J, Beggiato, A, Pinabiaux, C, Sitbon, D, Noulhiane, M, Toro, R, Boespflug-Tanguy, O, Delorme, R, Elmaleh-Bergès, M, Hertz-Pannier, L, Germanaud, D

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A simple blood test expedites the diagnosis of GLUT1 deficiency syndrome von Gras, D, Cousin, C, Kappeler, C, Auvin, S, Essid, N, Da Costa, L, Hainque, E, Luton, M.P, Petit, V, Vuillaumier-Barrot, S, Boespflug-Tanguy, O, Roze, E, Mochel, F

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A novel autosomal dominant leukodystrophy with specific MRI pattern von Corlobé, A., Taithe, F., Clavelou, P., Pierre, E., Carra-Dallière, C., Ayrignac, X., Mouzat, K., Lumbroso, S., Menjot de Champfleur, N., Koenig, M., Boespflug-Tanguy, O., Labauge, P.

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Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts von Patrono, C, Di Giacinto, G, Eymard-Pierre, E, Santorelli, F M, Rodriguez, D, De Stefano, N, Federico, A, Gatti, R, Benigno, V, Megarbané, A, Tabarki, B, Boespflug-Tanguy, O, Bertini, E

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Genotype–phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations von Cailloux, Fabrice, Gauthier-Barichard, Fernande, Mimault, Corinne, Isabelle, Valerie, Courtois, Virginie, Giraud, Geneviève, Dastugue, Bernard, Boespflug-Tanguy, Odile

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