Search Results - "Isapof, A."

Clinical correlations and long‐term follow‐up in 100 patients with sarcoglycanopathies by Guimarães‐Costa, R., Fernández‐Eulate, G., Wahbi, K., Leturcq, F., Malfatti, E., Behin, A., Leonard‐Louis, S., Desguerre, I., Barnerias, C., Nougues, M. C., Isapof, A., Estournet‐Mathiaud, B., Quijano‐Roy, S., Fayssoil, A., Orlikowski, D., Fauroux, B., Richard, I., Semplicini, C., Romero, N. B., Querin, G., Eymard, B., Laforêt, P., Stojkovic, T.

“…Background and purpose To describe a large series of patients with α, β, and γ sarcoglycanopathies (LGMD‐R3, R4, and R5) and study phenotypic correlations and…”
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Paroxysmal strabismus and stridor acquired in childhood: Do not overlook calcemia by Escudier, A., Giabicani, E., Neven, B., Gouache, E., Blanchard, M., Isapof, A., Nougues, M.-C., Freihuber, C.

“…Hypocalcemia is known to induce stridor but was rarely reported to cause strabismus. We report the case of a 4-year-old girl who presented with paroxysmal…”
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Frequency and natural history of sarcoglycanopathies in Paris neuromuscular centers by Guimarães-Costa, R, Behin, A, Stojkovic, T, Leonard-Louis, S, Desguerre, I, Barnerias, C, Mayer, M, Isapof, A, Estournet, B, Leturcq, F, Semplicini, C, Eymard, B, Laforêt, P

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Serotype 19F pneumococcal meningitis in an imunocompetent infant immunized with heptavalent pneumococcal conjugated vaccine Prevenar by Isapof, A, Delacourt, C, Reinert, P, Cohen, R, Madhi, F

“…Seven cases of pneumococcal meningitis caused by serotypes covered by the available vaccine occurred in France in vaccinated children, 4 of which were caused…”
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Impact of prenatal corpus callosum agenesis diagnosis on pregnancy outcome. Evaluation of 155 cases between 2000 and 2006 by Isapof, A, Kieffer, V, Sacco, S, Billette de Villemeur, T, Gelot, A, Garel, C, Adamsbaum, C, Lewin, F, Jouannic, J-M, Raffo, E, Moutard, M-L

“…The purpose of this study was to investigate the changes between 2000 and 2006 in pregnancy outcome when a diagnosis of either isolated or associated fetal…”
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Malignant solid tumors in neonates: a study of 71 cases by de Bouyn-Icher, C, Minard-Colin, V, Isapof, A, Khuong Quang, D-A, Redon, I, Hartmann, O

“…Malignant neonatal tumors are rare and comprise 2% of childhood malignancies. Clinical features, histologic types, prognosis were very different from those…”
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Méningite à pneumocoque de sérotype 19F chez un enfant immunocompétent ayant reçu 3 injections du vaccin pneumococcique conjugué heptavalent Prevenar by Isapof, A., Delacourt, C., Reinert, P., Cohen, R., Madhi, F.

“…Sept cas de méningites à pneumocoque de sérotypes vaccinaux ont été recensés en France depuis l’introduction du vaccin Prevenar® durant la période 2001 à 2005…”
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DISTAL MYOPATHIES by Elouej, S., Nelson, I., Cohen, E., Yaou, R. Ben, Isapof, A., Dubourg, O., Romero, N., Bonne, G., Biferi, M., Stojkovic, T.

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DISTAL MYOPATHIES: EP.75 Functional validation of a novel variant of the SPTAN1 gene identified in a family with distal motor myopathy with nerve involvement by Elouej, S., Nelson, I., Cohen, E., Yaou, R. Ben, Isapof, A., Dubourg, O., Romero, N., Bonne, G., Biferi, M., Stojkovic, T.

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COLLAGEN RELATED MUSCLE DISEASES: EP.59 Genetic etiology of retractile myopathies in a cohort of 80 children under 11 years following NGS analysis by 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.

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COLLAGEN RELATED MUSCLE DISEASES by 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.

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MYASTHENIA & RELATED DISORDERS: P.31 Identification of new recessive mutations in synaptotagmin-2 responsible for severe and early presynaptic forms of congenital myasthenic syndrome by Bauché, S., Sureau, A., Sternberg, D., Rendu, J., Buon, C., Messéant, J., Boëx, M., Furling, D., Fauré, J., Latypova, X., Gelot, A. Bernabe, Mayer, M., Laffargue, F., Nougues, M., Fontaine, B., Eymard, B., Isapof, A., Strochlic, L.

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MYASTHENIA & RELATED DISORDERS by Bauché, S., Sureau, A., Sternberg, D., Rendu, J., Buon, C., Messéant, J., Boëx, M., Furling, D., Fauré, J., Latypova, X., Gelot, A. Bernabe, Mayer, M., Laffargue, F., Nougues, M., Fontaine, B., Eymard, B., Isapof, A., Strochlic, L.

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Impact du dépistage anténatal des agénésies du corps calleux sur le devenir des grossesses. Étude de 155 dossiers de 2000 à 2006 by Isapof, A., Kieffer, V., Sacco, S., Billette de Villemeur, T., Gelot, A., Garel, C., Adamsbaum, C., Lewin, F., Jouannic, J.-M., Raffo, E., Moutard, M.-L.

“…L’objectif de ce travail a été d’étudier l’évolution de la décision concernant l’issue de la grossesse chez les couples confrontés entre 2000 et 2006 au…”
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Tumeurs solides malignes néonatales : à propos de 71 cas by de Bouyn-Icher, C., Minard-Colin, V., Isapof, A., Khuong Quang, D.-A., Redon, I., Hartmann, O.

“…Les tumeurs malignes néonatales sont rares et ne représentent que 2 % des tumeurs observées chez l'enfant. Leurs présentations cliniques, leurs…”
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G.P.162 - Frequency and natural history of sarcoglycanopathies in Paris neuromuscular centers by Guimarães-Costa, R., Behin, A., Stojkovic, T., Leonard-Louis, S., Desguerre, I., Barnerias, C., Mayer, M., Isapof, A., Estournet, B., Leturcq, F., Semplicini, C., Eymard, B., Laforêt, P.

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Polyhandicap and aging by Rousseau, Marie-Christine, de Villemeur, Thierry Billette, Khaldi-Cherif, Sherezad, Brisse, Catherine, Felce, Agnès, Loundou, Anderson, Baumstarck, Karine, Auquier, Pascal

“…Knowledge of the health status and care management of elderly individuals with polyhandicap* is lacking; however, a better understanding of the natural course…”
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The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care by de Antonio, M, Dogan, C, Eymard, B, Puymirat, J, Mathieu, J, Gagnon, C, Attarian, S, Aube-Nathier, Ac, Audic, F, Bach, N, Barnerias, C, Bedat-Millet, Al, Behin, A, Bellance, R, Ben Yaou, R, Bombard, V, Bouhour, F, Boutte, C, Boyer, F, Cances, C, Chabrol, B, Chanson, Jb, Chapon, F, Chasseriau, R, Cintas, P, Cobo, Am, Colombert, V, Cruz, Mc, Cuisset, Jm, Deschamps, R, Desguerre, I, Durigneux, J, Duval, F, Espil, C, Fafin, C, Feasson, L, Fradin, M, Furby, A, Goldenberg, A, Grotto, S, Ghorab, K, Guyant-Marechal, L, Heron, D, Isapof, A, Jacquin-Piques, A, Journel, H, Laforet, P, Lagrue, E, Laroche-Raynaud, C, Laugel, V, Lebeau, F, Magot, A, Manel, V, Mayer, M, Mercier, S, Menard, D, Michaud, M, Minot, Mc, Morales, Rj, Nadaj-Pakleza, A, Noury, Jb, Pasquier, L, Pellieux, S, Pereon, Y, Perrier, J, Peudenier, S, Preudhomme, M, Pouget, J, Quijano-Roy, S, Ragot-Mandry, S, Richelme, C, Rivier, F, Sabouraud, P, Sacconi, S, Salort-Campana, E, Sarret, C, Schaeffer, S, Sole, G, Stojkovic, T, Taithe, F, Testard, H, Tiffereau, V, Urtizberea, A, Vanhulle, C, Vial, C, Walther-Louvier, U, Zagnoli, F, Hamroun, D, Bassez, G

“…Background: The relevance of registries as a key component for developing clinical research for rare diseases (RD) and improving patient care has been…”
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PP3.7 – 2011 Acute and subacute chorea in a French series of 37 children by Doummar, D, Grisel, C, Roubertie, A, Héron, B, Gras, D, Laroche, C, Sabouraud, P, Motte, J, Maincent, K, Isapof, A, Rodriguez, D, Billette de Villemeur, T

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SFP CO-08 - Amélioration de l’epilepsie et progrès psychomoteurs d’une enfant atteinte de maladie de Gaucher type 3 sous traitement par molécule chaperone by Bonheur, J., Isapof, A., Heron, B., Rodriguez, D., Billette De Villemeur, T.

“…La maladie de Gaucher est une accumulation de glucosylceramide dans les lysosomes due à la mutation du gène codant pour la betaglucocérébrosidase. Le type 3…”
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