X-chromosome inactivation in female patients with Fabry disease
Echevarria, L., Benistan, K., Toussaint, A., Dubourg, O., Hagege, A.A., Eladari, D., Jabbour, F., Beldjord, C., De Mazancourt, P., Germain, D.P.
Published in Clinical genetics (01.01.2016)
Published in Clinical genetics (01.01.2016)
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Journal Article
Respiratory manifestations of Ehlers-Danlos syndromes
Benattia, A, Benistan, K, Frank, M, Boussouar, S
Published in Revue des maladies respiratoires (01.03.2023)
Published in Revue des maladies respiratoires (01.03.2023)
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Journal Article
Obsessive-compulsive disorder and pelvic organ prolapse
Tsilanizara, A, Karila, L, Sallee, C, Denys, P, Fechner, A, Benistan, K, Cardot, V, Deffieux, X
Published in Progrès en urologie (Paris) (01.06.2021)
Published in Progrès en urologie (Paris) (01.06.2021)
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Journal Article
Ocular manifestations in Ehlers-Danlos Syndromes: Clinical study of 21 patients
Perez-Roustit, S, Nguyen, D-T, Xerri, O, Robert, M-P, De Vergnes, N, Mincheva, Z, Benistan, K, Bremond-Gignac, D
Published in Journal francais d'ophtalmologie (01.09.2019)
Published in Journal francais d'ophtalmologie (01.09.2019)
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Journal Article
Ischemic inflammatory myopathy with microangiopathy in Fabry disease
Benistan, K, Carlier, R, Echevarria, L, Quijano-Roy, S, Germain, D, Authier, F
Published in Neuromuscular disorders : NMD (01.10.2015)
Published in Neuromuscular disorders : NMD (01.10.2015)
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Journal Article
Osteopenia and osteoporosis: previously unrecognized manifestations of Fabry disease
Germain, Dominique P, Benistan, Karelle, Boutouyrie, Pierre, Mutschler, Celine
Published in Clinical genetics (01.07.2005)
Published in Clinical genetics (01.07.2005)
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Journal Article
Vestibular and cochlear manifestations in Fabry's disease
Malinvaud, D, Germain, D P, Benistan, K, Bonfils, P
Published in La revue de medecine interne (01.12.2010)
Published in La revue de medecine interne (01.12.2010)
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Journal Article
IRM cérébrale dans le pseudoxanthome élastique
Mokhtari, S, Carlier, R, Germain, D, Benistan, K, Debette, S
Published in Journal of neuroradiology (01.03.2012)
Published in Journal of neuroradiology (01.03.2012)
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Journal Article
The cochlea in Fabry disease: a sensorineural hearing loss model of vascular origin?
Malinvaud, D, Avan, P, Germain, D P, Benistan, K, Bonfils, P
Published in La revue de medecine interne (01.07.2006)
Published in La revue de medecine interne (01.07.2006)
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Journal Article
Manifestations ORL de la maladie de Fabry
Malinvaud, D., Germain, D.P., Benistan, K., Bonfils, P.
Published in La Revue de médecine interne (Paris) (01.12.2010)
Published in La Revue de médecine interne (Paris) (01.12.2010)
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Journal Article
Conference Proceeding
COLLAGEN RELATED MUSCLE DISEASES
Metay, C., Jobic, V., Isapof, A., Cuisset, J., Barnerias, C., Whalen, S., Demurger, F., Melki, J., Jobic, F., Afenjar, A., Desguerre, I., Benistan, K., Elaribi, Y., Ferreiro, A., Laugel, V., Nougues, M., Benezit, A., Davion, J., Quijano, S., Richard, P.
Published in Neuromuscular disorders : NMD (01.10.2021)
Published in Neuromuscular disorders : NMD (01.10.2021)
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Journal Article
COLLAGEN RELATED MUSCLE DISEASES: EP.59 Genetic etiology of retractile myopathies in a cohort of 80 children under 11 years following NGS analysis
Metay, C., Jobic, V., Isapof, A., Cuisset, J., Barnerias, C., Whalen, S., Demurger, F., Melki, J., Jobic, F., Afenjar, A., Desguerre, I., Benistan, K., Elaribi, Y., Ferreiro, A., Laugel, V., Nougues, M., Benezit, A., Davion, J., Quijano, S., Richard, P.
Published in Neuromuscular disorders : NMD (01.10.2021)
Published in Neuromuscular disorders : NMD (01.10.2021)
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Journal Article
Thérapies enzymatiques substitutives des maladies lysosomales
Germain, D.P., Boucly, C., Carlier, R.Y., Caudron, E., Charlier, P., Colas, F., Jabbour, F., Martinez, V., Mokhtari, S., Orlikowski, D., Pellegrini, N., Perronne, C., Prigent, H., Rubinsztajn, R., Benistan, K.
Published in La Revue de médecine interne (Paris) (01.12.2010)
Published in La Revue de médecine interne (Paris) (01.12.2010)
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Journal Article
Conference Proceeding
Manifestations respiratoires des syndromes d’Ehlers-Danlos
Benattia, A., Benistan, K., Frank, M., Boussouar, S.
Published in Revue des maladies respiratoires (01.03.2023)
Published in Revue des maladies respiratoires (01.03.2023)
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Journal Article
G.P.189 - Ischemic inflammatory myopathy with microangiopathy in Fabry disease
Benistan, K., Carlier, R., Echevarria, L., Quijano-Roy, S., Germain, D., Authier, F.
Published in Neuromuscular disorders : NMD (01.10.2015)
Published in Neuromuscular disorders : NMD (01.10.2015)
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Journal Article
Long-term exposure to Myozyme results in a decrease of anti-drug antibodies in late-onset Pompe disease patients
Masat, Elisa, Laforêt, Pascal, De Antonio, Marie, Corre, Guillaume, Perniconi, Barbara, Taouagh, Nadjib, Mariampillai, Kuberaka, Amelin, Damien, Mauhin, Wladimir, Hogrel, Jean-Yves, Caillaud, Catherine, Ronzitti, Giuseppe, Puzzo, Francesco, Kuranda, Klaudia, Colella, Pasqualina, Mallone, Roberto, Benveniste, Olivier, Mingozzi, Federico, Bassez, G., Bedat-Millet, A. L., Behin, A., Eymard, B., Leonard-Louis, S., Stojkovic, T., Canal, A., Decostre, V., Bouhour, F., Boyer, F., Castaing, Y., Chapon, F., Cintas, P., Durieu, I., Echaniz-Laguna, A., Feasson, L., Furby, A., Hamroun, D., Ferrer, X., Solé, G., Froissart, R., Piraud, M., Germain, D., Benistan, K., Guffon-Fouilhoux, N., Journel, H., Labauge, P., Lacour, A., Levy, A., Magot, A., Péréon, Y., Minot-Myhié, M. -C., Nadaj-Pakleza, A., Nathier, C., Orlikowski, D., Pellegrini, N., Petiot, P., Praline, J., Lofaso, F., Prigent, H., Dutry, A., Renard, D., Sacconi, S., Desnuelle, C., Salort-Campana, E., Pouget, J., Tiffreau, V., Vincent, D., Zagnoli, F.
Published in Scientific reports (04.11.2016)
Published in Scientific reports (04.11.2016)
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