Alternate Title: Diagnostic approach to metabolic leukodystrophy in adults (English)

المؤلفون: Mochel, F.

المصدر: In Pratique Neurologique - FMC March 2024 15(1):9-21

المؤلفون: Bakardjian, H., Benali, H., Bertin, H., Bonheur, J., Boukadida, L., Boukerrou, N., Cavedo, E., Chiesa, P., Colliot, O., Dubois, B., Dubois, M., Epelbaum, S., Gagliardi, G., Genthon, R., Habert, M.O., Hampel, H., Houot, M., Kas, A., Lamari, F., Levy, M., Lista, S., Metzinger, C., Mochel, F., Nyasse, F., Poisson, C., Potier, M.C., Revillon, M., Santos, A., Andrade, K.S., Sole, M., Surtee, M., Thiebaud de Schotten, M., Vergallo, A., Younsi, N., Afshar, Mohammad, Flores Aguilar, Lisi, Akman-Anderson, Leyla, Arenas, Joaquín, Avila, Jesus, Babiloni, Claudio, Baldacci, Filippo, Batrla, Richard, Benda, Norbert, Black, Keith L., Bokde, Arun L.W., Bonuccelli, Ubaldo, Broich, Karl, Cacciola, Francesco, Caraci, Filippo, Castrillo, Juan, Cavedo, Enrica, Ceravolo, Roberto, Chiesa, Patrizia A., Corvol, Jean-Christophe, Claudio Cuello, Augusto, Cummings, Jeffrey L., Depypere, Herman, Dubois, Bruno, Duggento, Andrea, Emanuele, Enzo, Escott-Price, Valentina, Federoff, Howard, Teresa Ferretti, Maria, Fiandaca, Massimo, Frank, Richard A., Garaci, Francesco, Geerts, Hugo, Giorgi, Filippo S., Goetzl, Edward J., Graziani, Manuela, Haberkamp, Marion, Marie-Odile, Habert, Hampel, Harald, Herholz, Karl, Hernandez, Felix, Kapogiannis, Dimitrios, Karran, Eric, Kiddle, Steven J., Kim, Seung H., Koronyo, Yosef, Koronyo-Hamaoui, Maya, Langevin, Todd, Lehéricy, Stéphane, Lucía, Alejandro, Lista, Simone, Lorenceau, Jean, Mango, Dalila, Mapstone, Mark, Neri, Christian, Nisticò, Robert, O'Bryant, Sid E., Palermo, Giovanni, Perry, George, Ritchie, Craig, Rossi, Simone, Saidi, Amira, Santarnecchi, Emiliano, Schneider, Lon S., Sporns, Olaf, Toschi, Nicola, Verdooner, Steven R., Vergallo, Andrea, Villain, Nicolas, Welikovitch, Lindsay A., Woodcock, Janet, Younesi, Erfan, Houot, Marion, Lemercier, Pablo, Vanmechelen, Eugeen, De Vos, Ann, Habert, Marie-Odile, Potier, Marie-Claude

المصدر: In Alzheimer's & Dementia: The Journal of the Alzheimer's Association October 2019 15(10):1274-1285

المؤلفون: Bakardjian, H., Benali, H., Bertin, H., Bonheur, J., Boukadida, L., Boukerrou, N., Cavedo, E., Chiesa, P., Colliot, O., Dubois, B., Dubois, M., Epelbaum, S., Gagliardi, G., Genthon, R., Habert, M.O., Hampel, H., Houot, M., Kas, A., Lamari, F., Levy, M., Lista, S., Metzinger, C., Mochel, F., Nyasse, F., Poisson, C., Potier, M.C., Revillon, M., Santos, A., Andrade, K.S., Sole, M., Surtee, M., de Schotten M, Thiebaud, Vergallo, A., Younsi, N., Aguilar, Lisi Flores, Babiloni, Claudio, Baldacci, Filippo, Benda, Norbert, Black, Keith L., Bokde, Arun L.W., Bonuccelli, Ubaldo, Broich, Karl, Cacciola, Francesco, Castrillo, Juan, Cavedo, Enrica, Ceravolo, Roberto, Chiesa, Patrizia A., Corvol, Jean-Christophe, Cuello, Augusto Claudio, Cummings, Jeffrey L., Depypere, Herman, Dubois, Bruno, Duggento, Andrea, Escott-Price, Valentina, Federoff, Howard, Ferretti, Maria Teresa, Fiandaca, Massimo, Frank, Richard A., Garaci, Francesco, Geerts, Hugo, Giorgi, Filippo S., Graziani, Manuela, Haberkamp, Marion, Habert, Marie-Odile, Hampel, Harald, Herholz, Karl, Karran, Eric, Kim, Seung H., Koronyo, Yosef, Koronyo-Hamaoui, Maya, Lamari, Foudil, Langevin, Todd, Lehéricy, Stéphane, Lista, Simone, Lorenceau, Jean, Mango, Dalila, Mapstone, Mark, Neri, Christian, Nisticò, Robert, O'Bryant, Sid E., Perry, George, Ritchie, Craig, Rossi, Simone, Saidi, Amira, Santarnecchi, Emiliano, Schneider, Lon S., Sporns, Olaf, Toschi, Nicola, Verdooner, Steven R., Vergallo, Andrea, Villain, Nicolas, Welikovitch, Lindsay A., Woodcock, Janet, Younesi, Erfan, Mégret, Lucile, Zetterberg, Henrik, Blennow, Kaj, Vanmechelen, Eugeen, De Vos, Ann, Potier, Marie-Claude

المصدر: In Alzheimer's & Dementia: The Journal of the Alzheimer's Association June 2019 15(6):764-775

المؤلفون: Boland, B, Yu, WH, Corti, O, Mollereau, B, Henriques, A, Bezard, E, Pastores, GM, Rubinsztein, DC, Nixon, RA, Duchen, MR, Mallucci, GR, Kroemer, G, Levine, B, Eskelinen, EL, Mochel, F, Spedding, M, Louis, C, Martin, OR, Millan, MJ

المصدر: Nature reviews. Drug discovery. 17(9):660

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:139029160

المؤلفون: Audrain, C., Auffret, A., Bakardjian, H., Baldacci, F., Batrancourt, B., Benakki, I., Benali, H., Bertin, H., Bertrand, A., Boukadida, L., Cacciamani, F., Causse, V., Cavedo, E., Cherif Touil, S., Chiesa, P.A., Colliot, O., Dalla Barba, G., Depaulis, M., Dos Santos, A., Dubois, B., Dubois, M., Epelbaum, S., Fontaine, B., Francisque, H., Gagliardi, G., Genin, A., Genthon, R., Glasman, P., Gombert, F., Habert, M.O., Hampel, H., Hewa, H., Houot, M., Jungalee, N., Kas, A., Kilani, M., La Corte, V., Le Roy, F., Lehericy, S., Letondor, C., Levy, M., Lista, S., Lowrey, M., Ly, J., Makiese, O., Masetti, I., Mendes, A., Metzinger, C., Michon, A., Mochel, F., Nait Arab, R., Nyasse, F., Perrin, C., Poirier, F., Poisson, C., Potier, M.C., Ratovohery, S., Revillon, M., Rojkova, K., Santos-Andrade, K., Schindler, R., Servera, M.C., Seux, L., Simon, V., Skovronsky, D., Thiebaut, M., Uspenskaya, O., Vlaincu, M., Aguilar, L.F., Babiloni, C., Benda, N., Black, K.L., Bokde, A.L.W., Bonuccelli, U., Broich, K., Bun, R.S., Cacciola, F., Castrillo, J., Ceravolo, R., Coman, C.M., Corvol, J.C., Cuello, A.C., Cummings, J.L., Depypere, H., Duggento, A., Durrleman, S., Escott-Price, V., Federoff, H., Ferretti, M.T., Fiandaca, M., Frank, R.A., Garaci, F., George, N., Giorgi, F.S., Graziani, M., Haberkamp, M., Herholz, K., Karran, E., Kim, S.H., Koronyo, Y., Koronyo-Hamaoui, M., Lamari, F., Langevin, T., Lehéricy, S., Lorenceau, J., Mapstone, M., Neri, C., Nisticò, R., Nyasse-Messene, F., O'Bryant, S.E., Perry, G., Ritchie, C., Rossi, S., Santarnecchi, E., Schneider, L.S., Sporns, O., Toschi, N., Verdooner, S.R., Vergallo, A., Villain, N., Welikovitch, L., Woodcock, J., Younesi, E., Vergallo, Andrea, Bun, René-Sosata, Toschi, Nicola, Baldacci, Filippo, Zetterberg, Henrik, Blennow, Kaj, Cavedo, Enrica, Lamari, Foudil, Habert, Marie-Odile, Dubois, Bruno, Floris, Roberto, Garaci, Francesco, Lista, Simone, Hampel, Harald

المصدر: In Alzheimer's & Dementia: The Journal of the Alzheimer's Association December 2018 14(12):1623-1631

المؤلفون: Audrain, C., Auffret, A., Bakardjian, H., Baldacci, F., Batrancourt, B., Benakki, I., Benali, H., Bertin, H., Bertrand, A., Boukadida, L., Cacciamani, F., Causse, V., Cavedo, E., Cherif Touil, S., Chiesa, P.A., Colliot, O., Dalla Barba, G., Depaulis, M., Dos Santos, A., Dubois, B., Dubois, M., Epelbaum, S., Fontaine, B., Francisque, H., Gagliardi, G., Genin, A., Genthon, R., Glasman, P., Gombert, F., Habert, M.O., Hampel, H., Hewa, H., Houot, M., Jungalee, N., Kas, A., Kilani, M., La Corte, V., Le Roy, F., Lehericy, S., Letondor, C., Levy, M., Lista, S., Lowrey, M., Ly, J., Makiese, O., Masetti, I., Mendes, A., Metzinger, C., Michon, A., Mochel, F., Nait Arab, R., Nyasse, F., Perrin, C., Poirier, F., Poisson, C., Potier, M.C., Ratovohery, S., Revillon, M., Rojkova, K., Santos-Andrade, K., Schindler, R., Servera, M.C., Seux, L., Simon, V., Skovronsky, D., Thiebaut, M., Uspenskaya, O., Vlaincu, M., Teipel, Stefan J., Cavedo, Enrica, Lista, Simone, Habert, Marie-Odile, Potier, Marie-Claude, Grothe, Michel J., Epelbaum, Stephane, Sambati, Luisa, Gagliardi, Geoffroy, Toschi, Nicola, Greicius, Michael D., Dubois, Bruno, Hampel, Harald

المصدر: In Alzheimer's & Dementia: The Journal of the Alzheimer's Association September 2018 14(9):1126-1136

المؤلفون: Chabrol, B., Jacquin, P., Francois, L., Broué, P., Dobbelaere, D., Douillard, C., Dubois, S., Feillet, F., Perrier, A., Fouilhoux, A., Labarthe, F., Lamireau, D., Mazodier, K., Maillot, F., Mochel, F., Schiff, M., Belmatoug, N.

المصدر: In Archives de pédiatrie July 2018 25(5):344-349

المؤلفون: van Wegberg, A.M.J., Trefz, F., Gizewska, M., Ahmed, S., Chabraoui, L., Zaki, M.S., Maillot, F., van Spronsen, F.J., Ahring, K., Al Mutairi, F., Arnoux, J.B., Ballhausen, D., Baruteau, J., Bernstein, L., Bijarnia-Mahay, S., Boemer, François, Bordugo, A., Brodosi, L., Brooks, S., Chew, H.B., Chyz, K., Coker, M., Collingwood, C., Cornejo, V., Couce, M.L., Cozens, A., Dahri, S., Das, A.M., de Laet, C., de las Heras Montero, J., de Vreugd, A., Debray, François-Guillaume, Dercksen, M., Descartes, M., Diogo, L., Drogari, E., Eiroa, H., Eminoglu, F.T., Enns, G.M., Eyskens, F., Feillet, F., Ford, S., Franzson, L., Freisinger, P., Garcia, P., Grafakou, O., Gramer, G., Gray, S., Groselj, U., Grünert, S.C., Haas, D., Handoom, B., Harte, T.B., Hendriksz, C., Heredia, R.S., Hertecant, J., Hoi-Yee Wu, T., Inwood, A., Jamuar, S.S., Jesina, P., Jonsson, J.J., Jovanovic, A., Kern, I., Kilavuz, S., Knerr, I., Kor, D., Korycinska-Chaaban, D., Kreile, M., Kumru, B., Lanpher, B., Lapatto, R., Lavigne, C., Leao-Teles, E., Leuzzi, V., Longo, N., Lopez-Uriarte, A., Lubout, C.M.A., MacDonald, A., Megdad, E.M., Mitchell, J., Mochel, F., Moreno-Lozano, P.J., Morris, A., Moura de Souza, C.F., Munoz, T., Nevalainen, P.I., Oscarson, M., Õunap, K., Paci, S., Pastores, G.M., Pearl, P.L., Piazzon, F.B., Pitt, J., Poon, G., Porta, F., Presner, N., Rabaty, A.A., Reinson, K., Reismann, P., Rink, T., Rocha, J.C., Rodrigues, E., Saini, A.G., Sanchez-Valle, A., Sander, J., Sarkhail, P., Schwartz, I.V.D., Sharma, R., Sheng, B., Siriwardena, K., Sirrs, S., Sjarif, D.R., Sondheimer, N., Sparkes, R., Specola, N., Stepien, K.M., Szatmari, I., Tchan, M., Tkemaladze, T., Tran, C., Valle, M.G., Vela-Amieva, M., Verdaguer, M.L., Vergano, S.A., Vermeersch, P., Vulturar, R., Wagenmakers, M.A.E.M., Weinhold, N., Williams, A.B., Wilson, W.G., Zafeiriou, D., Zhang, H., Ziagaki, A., Zolkowska, J., Study Group on Missed PKU and Missed to Follow-Up

المصدر: Journal of Pediatrics, 239, 231 - 234.e2 (2021)

مصطلحات موضوعية: immigrant, late diagnosis, NBS, phenylketonuria, refugee, phenylalanine, adolescent, adult, Article, asymptomatic disease, autism, child, developmental delay, epilepsy, Europe, false negative result, family, female, health program, health survey, human, inborn error of metabolism, infant, major clinical study, male, missed diagnosis, newborn, newborn screening, North America, Pacific islands, patient referral, questionnaire, symptom, Syrian Arab Republic, delayed diagnosis, global health, health care delivery, health care policy, health care survey, migrant, organization and management, preschool child, young adult, Adolescent, Adult, Child, Child, Preschool, Delayed Diagnosis, Emigrants and Immigrants, Female, Global Health, Health Care Surveys, Health Policy, Health Services Accessibility, Humans, Infant, Infant, Newborn, Male, Neonatal Screening, Phenylketonurias, Young Adult, Life sciences, Genetics & genetic processes, Sciences du vivant, Génétique & processus génétiques

Relation: urn:issn:0022-3476; urn:issn:1097-6833

URL الوصول: https://orbi.uliege.be/handle/2268/312112

المؤلفون: Tran Mau-Them, F.^{Aff1, Aff2}, Guibaud, L.^{Aff3, Aff4}, Duplomb, L., Keren, B., Lindstrom, K., Marey, I., Mochel, F.^{Aff5, Aff7, Aff8}, van den Boogaard, M. J., Oegema, R., Nava, C., Masurel, A., Jouan, T.^{Aff1, Aff2}, Jansen, F. E., Au, M., Chen, Agnes H., Cho, M., Duffourd, Y., Lozier, E., Konovalov, F., Sharkov, A.^{Aff15, Aff16}, Korostelev, S., Urteaga, B., Dickson, P., Vera, M., Martínez-Agosto, Julián A., Begemann, A., Zweier, M., Schmitt-Mechelke, T., Rauch, A., Philippe, C.^{Aff1, Aff2}, van Gassen, K., Nelson, S., Graham, Jr, J. M., Friedman, J., Faivre, L.^{Aff2, Aff10}, Lin, H. J., Thauvin-Robinet, C.^{Aff1, Aff10}, Vitobello, A.^{Aff1, Aff2}

المصدر: Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(4):1008-1014

المؤلفون: Huemer, Martina^{Aff1, Aff2, Aff3}, Diodato, Daria, Martinelli, Diego, Olivieri, Giorgia, Blom, Henk, Gleich, Florian, Kölker, Stefan, Kožich, Viktor, Morris, Andrew A., Seifert, Burkhardt, Froese, D. Sean^{Aff1, Aff2}, Baumgartner, Matthias R.^{Aff1, Aff2}, Dionisi-Vici, Carlo^Aff4, the EHOD consortium, Alcalde Martin, C., Baethmann, M., Ballhausen, D., Blasco-Alonso, J., Boy, N., Bueno, M., Burgos Peláez, R., Cerone, R., Chabrol, B., Chapman, K. A., Couce, M. L., Crushell, E., Dalmau Serra, J., Diogo, L., Ficicioglu, C., García Jimenez, M. C., García Silva, M. T., Gaspar, A. M., Gautschi, M., González-Lamuño, D., Gouveia, S., Grünewald, S., Hendriksz, C., Janssen, M. C. H., Jesina, P., Koch, J., Konstantopoulou, V., Lavigne, C., Lund, A. M., Martins, E. G., Meavilla Olivas, S., Mention, K., Mochel, F., Mundy, H., Murphy, E., Paquay, S., Pedrón-Giner, C., Ruiz Gómez, M. A., Santra, S., Schiff, M., Schwartz, I. V., Scholl-Bürgi, S., Servais, A., Skouma, A., Tran, C., Vives Piñera, I., Walter, J.^{Aff8, Aff52}, Weisfeld-Adams, J.

المصدر: Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. :1-19