المؤلفون: Mereaux, JL, Firanescu, C, Coarelli, G, Kvarnung, M, Rodrigues, R, Pegoraro, E, Tazir, M, Taithe, F, Valter, R, Huin, V, Lidstrom, K, Banneau, G, Morais, S, Parodi, L, Coutelier, M, Papin, M, Svenningsson, P, Azulay, JP, Alonso, I, Nilsson, D, Brice, A, Le Guern, E, Press, R, Vazza, G, Loureiro, JL, Goizet, C, Durr, A, Paucar, M, Stevanin, G

المصدر: Neurogenetics. 22(1):71-79

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:145710632

المؤلفون: Crow, YJ, Chase, DS, Schmidt, JL, Szynkiewicz, M, Forte, GMA, Gornall, HL, Oojageer, A, Anderson, B, Pizzino, A, Helman, G, Abdel-Hamid, MS, Abdel-Salam, GM, Ackroyd, S, Aeby, A, Agosta, G, Albin, C, Allon-Shalev, S, Arellano, M, Ariaudo, G, Aswani, V, Babul-Hirji, R, Baildam, EM, Bahi-Buisson, N, Bailey, KM, Barnerias, C, Barth, M, Battini, R, Beresford, MW, Bernard, G, Bianchi, M, de Villemeur, TB, Blair, EM, Bloom, M, Burlina, AB, Carpanelli, ML, Carvalho, DR, Castro-Gago, M, Cavallini, A, Cereda, C, Chandler, KE, Chitayat, DA, Collins, AE, Corcoles, CS, Cordeiro, NJV, Crichiutti, G, Dabydeen, L, Dale, RC, D'Arrigo, S, De Goede, CGEL, De Laet, C, De Waele, LMH, Denzler, I, Desguerre, I, Devriendt, K, Di Rocco, M, Fahey, MC, Fazzi, E, Ferrie, CD, Figueiredo, A, Gener, B, Goizet, C, Gowrinathan, NR, Gowrishankar, K, Hanrahan, D, Isidor, B, Kara, L, Khan, N, King, MD, Kirk, EP, Kumar, R, Lagae, L, Landrieu, P, Lauffer, H, Laugel, V, La Piana, R, Lim, MJ, Lin, JPSM, Linnankivi, T, Mackay, MT, Marom, DR, Lourenco, CM, McKee, SA, Moroni, I, Morton, JEV, Moutard, ML, Murray, K, Nabbout, R, Nampoothiri, S, Nunez-Enamorado, N, Oades, PJ, Olivieri, I, Ostergaard, JR, Perez-Duenas, B, Prendiville, JS, Ramesh, V, Rasmussen, M, Regal, L, Ricci, F, Rio, M, Rodriguez, D, Roubertie, A, Salvatici, E, Segers, KA, Sinha, GP, Soler, D, Spiegel, R, Stodberg, TI, Straussberg, R, Swoboda, KJ, Suri, M, Tacke, U, Tan, TY, Naude, JT, Teik, KW, Thomas, MM, Till, M, Tonduti, D, Valente, EM, Van Coster, RN, van der Knaap, MS, Vassallo, G, Vijzelaar, R, Vogt, J, Wallace, GB, Wassmer, E, Webb, HJ, Whitehouse, WP, Whitney, RN, Zaki, MS, Zuberi, SM, Livingston, JH, Rozenberg, F, Lebon, P, Vanderver, A, Orcesi, S, Rice, GI

المصدر: American journal of medical genetics. Part A. 167(167A):296-312

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:130658997

المؤلفون: Legati, A, Giovannini, D, Nicolas, G, Lopez-Sanchez, U, Quintans, B, Oliveira, JRM, Sears, RL, Ramos, EM, Spiteri, E, Sobrido, MJ, Carracedo, A, Castro-Fernandez, C, Cubizolle, S, Fogel, BL, Goizet, C, Jen, JC, Kirdlarp, S, Lang, AE, Miedzybrodzka, Z, Mitarnun, W, Paucar, M, Paulson, H, Pariente, J, Richard, AC, Salins, NS, Simpson, SA, Striano, P, Svenningsson, P, Tison, F, Unni, VK, Vanakker, O, Wessels, MW, Wetchaphanphesat, S, Yang, M, Boller, F, Campion, D, Hannequin, D, Sitbon, M, Geschwind, DH, Battini, JL, Coppola, G

المصدر: Nature genetics. 47(6):579-581

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:131352775

المؤلفون: Parenti, I., Leitão, E., Kuechler, A., Villard, L., Goizet, C., Courdier, C., Bayat, A., Rossi, A., Julia, S., Bruel, A. L., Tran Mau-Them, F., Nambot, S., Lehalle, D., Willems, M., Lespinasse, J., Ghoumid, Jamal, Caumes, Roselyne, Smol, Thomas, El Chehadeh, S., Schaefer, E., Abi-Warde, M. T., Keren, B., Afenjar, A., Tabet, A. C., Levy, J., Maruani, A., Aledo-Serrano, Á., Garming, W., Milleret-Pignot, C., Chassevent, A., Koopmans, M., Verbeek, N. E., Person, R., Belles, R., Bellus, G., Salbert, B. A., Kaiser, F. J., Mazzola, L., Convers, P., Perrin, L., Piton, A., Wiegand, G., Accogli, A., Brancati, F., Benfenati, F., Chatron, N., Lewis-Smith, D., Thomas, R. H., Zara, F., Striano, P., Lesca, G., Depienne, C.

المساهمون: Université de Lille, CHU Lille, Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364, Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 RADEME

مصطلحات موضوعية: SYN1, synapsins, reflex epilepsy, genotype-phenotype correlation, neurodevelopmental disorders, autism spectrum disorders

وصف الملف: application/rdf+xml; charset=utf-8; application/pdf

Relation: Frontiers in Cell and Developmental Biology; Front Cell Dev Biol; http://hdl.handle.net/20.500.12210/84132

الاتاحة: https://hdl.handle.net/20.500.12210/84132

المؤلفون: Parenti I, Leitao E, Kuechler A, Villard L, Goizet C, Courdier C, Bayat A, Rossi A, Julia S, Bruel A-L, Tran Mau-Them F, Nambot S, Lehalle D, Willems M, Lespinasse J, Ghoumid J, Caumes R, Smol T, El Chehadeh S, Schaefer E, Abi-Warde M-T, Keren B, Afenjar A, Tabet A-C, Levy J, Maruani A, Aledo-Serrano A, Garming W, Milleret-Pignot C, Chassevent A, Koopmans M, Verbeek NE, Person R, Belles R, Bellus G, Salbert BA, Kaiser FJ, Mazzola L, Convers P, Perrin L, Piton A, Wiegand G, Accogli A, Brancati F, Benfenati F, Chatron N, Lewis-Smith D, Thomas RH, Zara F, Striano P, Lesca G, Depienne C

المصدر: Frontiers in Cell and Developmental Biology, 8 December 2022

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/288746; https://eprints.ncl.ac.uk/fulltext.aspx?url=288746/A0DF378A-F879-4CC0-8E86-7F4425B9821A.pdf&pub_id=288746

الاتاحة: https://eprints.ncl.ac.uk/288746

المؤلفون: Liautard-Haag, C., Durif, G., Vangoethem, C., Baux, D., Louis, A., Cayrefourcq, L., Lamairia, M., Willems, M., Zordan, C., Dorian, V., Rooryck, C., Goizet, C., Chaussenot, A., Monteil, L., Calvas, P., Miry, C., Favre, R., Le Boette, E., Fradin, M., Roux, A., Cossée, M., Koenig, Michel, Alix-Panabière, C., Guissart, C., Vincent, M.

المساهمون: Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Institut Montpelliérain Alexander Grothendieck (IMAG), Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Physiologie & médecine expérimentale du Cœur et des Muscles U 1046 (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM)

المصدر: ISSN: 2045-2322.

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

Relation: hal-03716132; https://hal.science/hal-03716132; https://hal.science/hal-03716132/document; https://hal.science/hal-03716132/file/2022%20Liautard%20Haag%20%20et%20al.,%20Non%20invasive.pdf

الاتاحة: https://hal.science/hal-03716132
https://hal.science/hal-03716132/document
https://hal.science/hal-03716132/file/2022%20Liautard%20Haag%20%20et%20al.,%20Non%20invasive.pdf
https://doi.org/10.1038/s41598-022-15307-2

المؤلفون: Pelletier F., Perrier S., Cayami F. K., Mirchi A., Saikali S., Tran L. T., Ulrick N., Guerrero K., Rampakakis E., van Spaendonk R. M. L., Naidu S., Pohl D., Gibson W. T., Demos M., Goizet C., Tejera-Martin I., Potic A., Fogel B. L., Brais B., Sylvain M., Sebire G., Lourenco C. M., Bonkowsky J. L., Catsman-Berrevoets C., Pinto P. S., Tirupathi S., Stromme P., de Grauw T., Gieruszczak-Bialek D., Krageloh-Mann I., Mierzewska H., Philippi H., Rankin J., Atik T., Banwell B., Benko W. S., Blaschek A., Bley A., Boltshauser E., Bratkovic D., Brozova K., Cimas I., Clough C., Corenblum B., Dinopoulos A., Dolan G., Faletra F., Fernandez R., Fletcher J., Garcia Garcia M. E., Gasparini P., Gburek-Augustat J., Gonzalez Moron D., Hamati A., Harting I., Hertzberg C., Hill A., Hobson G. M., Innes A. M., Kauffman M., Kirwin S. M., Kluger G., Kolditz P., Kotzaeridou U., La Piana R., Liston E., McClintock W., McEntagart M., McKenzie F., Melancon S., Misbahuddin A., Suri M., Monton F. I., Moutton S., Murphy R. P. J., Nickel M., Onay H., Orcesi S., Ozkinay F., Patzer S., Pedro H., Pekic S., Pineda Marfa M., Pizzino A., Plecko B., Poll-The B. T., Popovic V., Rating D., Rioux M. -F., Rodriguez Espinosa N., Ronan A., Ostergaard J. R., Rossignol E., Sanchez-Carpintero R., Schossig A., Senbil N., Sonderberg Roos L. K., Stevens C. A., Synofzik M., Sztriha L., Tibussek D., Timmann D., Tonduti D., van de Warrenburg B. P., Vazquez-Lopez M., Venkateswaran S., Wasling P., Wassmer E., Webster R. I., Wiegand G., Yoon G., Rotteveel J., Schiffmann R., van der Knaap M. S., Vanderver A., Martos-Moreno G. A., Polychronakos C., Wolf N. I., Bernard G.

المساهمون: Pelletier, F., Perrier, S., Cayami, F. K., Mirchi, A., Saikali, S., Tran, L. T., Ulrick, N., Guerrero, K., Rampakakis, E., van Spaendonk, R. M. L., Naidu, S., Pohl, D., Gibson, W. T., Demos, M., Goizet, C., Tejera-Martin, I., Potic, A., Fogel, B. L., Brais, B., Sylvain, M., Sebire, G., Lourenco, C. M., Bonkowsky, J. L., Catsman-Berrevoets, C., Pinto, P. S., Tirupathi, S., Stromme, P., de Grauw, T., Gieruszczak-Bialek, D., Krageloh-Mann, I., Mierzewska, H., Philippi, H., Rankin, J., Atik, T., Banwell, B., Benko, W. S., Blaschek, A., Bley, A., Boltshauser, E., Bratkovic, D., Brozova, K., Cimas, I., Clough, C., Corenblum, B., Dinopoulos, A., Dolan, G., Faletra, F., Fernandez, R., Fletcher, J., Garcia Garcia, M. E., Gasparini, P., Gburek-Augustat, J., Gonzalez Moron, D., Hamati, A., Harting, I., Hertzberg, C., Hill, A., Hobson, G. M., Innes, A. M., Kauffman, M., Kirwin, S. M., Kluger, G., Kolditz, P., Kotzaeridou, U., La Piana, R., Liston, E., Mcclintock, W., Mcentagart, M., Mckenzie, F., Melancon, S., Misbahuddin, A., Suri, M., Monton, F. I., Moutton, S., Murphy, R. P. J., Nickel, M., Onay, H., Orcesi, S., Ozkinay, F., Patzer, S., Pedro, H., Pekic, S., Pineda Marfa, M., Pizzino, A., Plecko, B., Poll-The, B. T., Popovic, V., Rating, D., Rioux, M. -F., Rodriguez Espinosa, N., Ronan, A., Ostergaard, J. R., Rossignol, E., Sanchez-Carpintero, R., Schossig, A., Senbil, N., Sonderberg Roos, L. K., Stevens, C. A., Synofzik, M., Sztriha, L.

مصطلحات موضوعية: 4H leukodystrophy, hypogonadotropic hypogonadism, hypomyelination, POLR3-related leukodystrophy

Relation: info:eu-repo/semantics/altIdentifier/pmid/33005949; volume:106; issue:2; firstpage:e660; lastpage:e674; numberofpages:15; journal:THE JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM; http://hdl.handle.net/11368/2980250; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85097520880; https://academic.oup.com/jcem/article/106/2/e660/5917135

الاتاحة: http://hdl.handle.net/11368/2980250
https://doi.org/10.1210/clinem/dgaa700
https://academic.oup.com/jcem/article/106/2/e660/5917135

المؤلفون: Braisch, U, Muche, R, Rothenbacher, D, Landwehrmeyer, GB, Long, JD, Orth, M, Bachoud-Levi, AC, Bentivoglio, AR, Biunno, I, Bonelli, RM, Burgunder, JM, Dunnett, SB, Ferreira, JJ, Handley, OJ, Heiberg, A, Illmann, T, Levey, J, Ramos-Arroyo, M, Nielsen, JE, Koivisto, SP, Paivarinta, M, Roos, RAC, Sebastian, AR, Tabrizi, SJ, Vandenberghe, W, Verellen-Dumoulin, C, Uhrova, T, Wahlstrom, J, Zaremba, J, Baake, V, Barth, K, Bos, R, Come, A, Guedes, LC, Finisterra, AM, Garde, MB, Betz, S, Callaghan, J, Capodarca, S, Wildson, SC, da Silva, V, Di Renzo, M, Ecker, D, Finisterra, M, Fullam, R, Genoves, C, Gilling, M, Hvalstedt, C, Held, C, Koppers, K, Lamanna, C, Laura, M, Descals, AM, Martinez-Horta, S, Mestre, T, Minster, S, Monza, D, Mutze, L, Oehmen, M, Padieu, H, Paterski, L, Peppa, N, Rindal, B, Roren, N, Sasinkova, P, Seliverstov, Y, Timewell, E, Townhill, J, Cubillo, PT, van Walsem, MR, Witjes-Ane, MN, Witkowski, G, Wright, A, Yudina, E, Zielonka, D, Zielonka, E, Zinzi, P, Braunwarth, EM, Brugger, F, Buratti, L, Hametner, EM, Hepperger, C, Holas, C, Hotter, A, Hussl, A, Larcher, B, Mahlknecht, P, Muller, C, Pinter, B, Poewe, W, Seppi, K, Sprenger, F, Wenning, G, Dupuis, M, Minet, C, Ribai, P, Van Paemel, D, Klempir, J, Majerova, V, Roth, J, Babiloni, B, Debruxelles, S, Duche, C, Goizet, C, Jameau, L, Lafoucriere, D, Spampinato, U, Boisse, MF, de Langavant, LC, Lemoine, L, Morgado, G, Youssov, K, Annic, A, Barthelemy, R, De Bruycker, C, Cabaret, M, Carette, AS, Carriere, N, Decorte, E, Defebvre, L, Delliaux, M, Delval, A, Depelchin, A, Destee, A, Dewulf-Pasz, N, Dondaine, T, Dugauquier, F, Dujardin, K, Krystkowiak, P, Lemaire, MH, Manouvrier, S, Peter, M, Plomhause, L, Sablonniere, B, Simonin, C, Tard, C, Thibault-Tanchou, S, Vuillaume, I, Bellonet, M, Benoit, A, Blin, S, Courtin, F, Duru, C, Fasquel, V, Godefroy, O, Mantaux, B, Roussel, M, Tir, M, Schuler, B, Wannepain, S, Azulay, JP, Chabot, C, Delfini, M, Eusebio, A, Fluchere, F, Grosjean, H, Mundler, L, Nowak, M, Bioux, S, Bliaux, E, Girard, C, Guyant-Marechal, L, Hannequin, D, Hannier, V, Jourdain, S, Maltete, D, Pouliquen, D, Blondeau, L, Calvas, F, Cheriet, S, Delabaere, H, Demonet, JF, Pariente, J, Pierre, M, Beuth, M, Gelderblom, H, Priller, J, Pruss, H, Spruth, E, Thiel, S, Ellrichmannberlin, G, Herrmann, L, Hoffmann, R, Kaminski, B, Saft, C, Bosredon, C, Hunger, U, Lohle, M, Maass, A, Ossig, C, Schmidt, S, Storch, A, Wolz, A, Wolz, M, Kohl, Z, Kozay, C, Ullah, J, Winkler, J, Bergmann, U, Boringer, R, Capetian, P, Kammel, G, Lambeck, J, Meier, S, Rijntjes, M, Zucker, B, Boelmans, K, Ganos, C, Goerendt, I, Heinicke, W, Hidding, U, Lewerenz, J, Munchau, A, Schmalfeld, J, Stubbe, L, Zittel, S, Diercks, G, Dressler, D, Francis, F, Gayde-Stephan, S, Gorzolla, H, Kramer, B, Minschke, R, Schrader, C, Tacik, P, Longinus, B, Lusebrink, A, Muhlau, M, Peinemann, A, Stadtler, M, Weindl, A, Winkelmann, J, Ziegler, C, Bechtel, N, Beckmann, H, Bohlen, S, Gopfert, N, Holzner, E, Lange, H, Reilmann, R, Rohm, S, Rumpf, S, Sass, C, Schepers, S, Weber, N, Buck, A, Connemann, J, Geitner, C, Kesse, A, Landwehrmeyer, B, Lezius, F, Nepper, S, Niess, A, Schneider, A, Schwenk, D, Sussmuth, S, Trautmann, S, Weydt, P, Klebe, S, Musacchio, T, Leypold, C, Noth, K, Cormio, C, de Tommaso, M, Franco, G, Sciruicchio, V, Serpino, C, Calandra-Buonaura, G, Capellari, S, Cortelli, P, Gallassi, R, Poda, R, Sambati, L, Scaglione, C, Maserati, MS, Agosti, C, Barlati, S, Compostella, S, Marchina, E, Padovani, A, Bertini, E, Ghelli, E, Ginestroni, A, Mechi, C, Paganini, M, Piacentini, S, Pradella, S, Romoli, AM, Sorbi, S, Abbruzzese, G, di Poggio, MB, Ferrandes, G, Mandich, P, Marchese, R, Tamburini, T, van den Bogaard, SJA, Dumas, EM, t'Hart, EP, Kampstra, A, Schoonderbeek, A, Aaserud, O, Bjorgo, K, Borgeod, N, Dramstad, E, Fannemel, M, Frich, JC, Gorvell, PF, Lorentzen, E, Retterstol, L, Rosby, O, Sikiric, A, Stokke, B, van Walsem, M, Wehus, R, Bjornevoll, I, Sando, SB, Haug, MG, Storseth, HH, Arntsen, V, Dziadkiewicz, A, Konkel, A, Narozanska, E, Robowski, P, Sitek, E, Slawek, J, Soltan, W, Szinwelski, M, Arkuszewski, M, Blaszczyk, M, Boczarska-Jedynak, M, Ciach-Wysocka, E, Gorzkowska, A, Nska-Myga, BJ, Kaczmarczyk, A, Klodowska-Duda, G, Opala, G, Rudzinska, M, Stompel, D, Banaszkiewicz, K, Bocwinska, D, Bojakowska-Jaremek, K, Dec, M, Grabska, N, Krawczyk, GM, Kubowicz, E, Malec-Litwinowicz, M, Stenwak, A, Szczudlik, A, Szczygiel, E, Wojcik, M, Wasielewska, A, Bryl, JAA, Ciesielska, A, Klimberg, A, Marcinkowski, J, Samara, H, Sempolowicz, J, Sniewski, BW, Gogol, A, Janik, P, Jamrozik, Z, Kaminska, A, Kwiecinski, H, Antczak, J, Jachinska, K, Krysa, W, Rakowicz, M, Richter, P, Rola, R, Ryglewicz, D, Sienkiewicz-Jarosz, H, Stepniak, I, Sulek, A, Zdzienicka, E, Ziora-Jakutowicz, K, Januario, C, Julio, F, Coelho, M, Mendes, T, Rosa, MM, Valadas, A, Kopishinskaya, S, Korotysh, M, Herrera, CD, Moreno, PG, Bas, J, Busquets, N, Calopa, M, Classen, SJ, Dedicha, NR, Buongiorno, MT, 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MA, Carrillo, F, Redondo, MTC, Mir, P, Gonzalez, LV, Moreno, JMG, Lucena, CM, Pena, JC, Redondo, L, Sanchez, VS, Fernandez, CM, Mata, MP, Lemos, MDR, Bosca, M, Burguera, JA, Vilaplana, FCBCP, Solis, P, Figuerola, BJ, Palanca, PM, Berglund, P, Constantinescu, R, Fredlund, G, Hosterey-Ugander, U, Linnsand, P, Neleborn-Lingefjard, L, Palhagen, S, Svenningsson, P, Paucar, M, Wallden, T, Ekwall, C, Goller, ML, Sundblom, J, Stebler, Y, Kaelin, A, Romero, I, Schupbach, M, Zaugg, SW, Jung, H, Petersen, J, Auer, M, Mihaylova, V, Vernon, N, Akhtar, S, Crooks, J, Curtis, A, de Souza, J, Piedad, J, Rickards, H, Wright, J, Coleman, C, Craven, J, Haig-Brown, D, Pallett, A, Simpson, S, Weekes, R, Coulthard, E, Gethin, L, Hayward, B, Sieradzan, K, Busse, M, Butcher, C, Dunnett, S, Clenaghan, C, Hunt, S, Jones, L, Jones, U, Khalil, H, Owen, M, Price, K, Rosser, A, Edwards, M, Ho, C, McGill, M, Porteous, M, Pearson, P, Harrower, T, Irvine, S, Brockie, P, Foster, J, Johns, N, McKenzie, S, Rothery, J, Thomas, G, Yates, S, Deith, C, Ireland, J, Ritchie, S, Andrew, A, Frost, J, Noad, R, Cosgrove, J, Gallantree, D, Hamer, S, Hobson, E, Jamieson, S, Kraus, A, Longthorpe, M, Markova, I, Musgrave, H, Peacy, C, Raman, A, Rowett, L, Toscano, J, Wild, S, Yardumian, P, Clayton, C, Dipple, H, Freire-Patino, D, Hallam, C, Middleton, J, Alusi, S, Davies, R, Foy, K, Gerrans, E, Leggett, H, Pate, L, Anjum, U, Coebergh, J, Eddy, C, Lahiri, N, McEntagart, M, Patton, M, Peterson, M, Rose, S, Andrews, T, Brown, S, Bruno, S, Chu, E, Doherty, K, Golding, C, Haider, S, Hensman, D, Lewis, M, Novak, M, Patel, A, Robertson, N, Rosser, E, Tabrizi, S, Taylor, R, Warner, T, Wild, E, Arran, N, Bek, J, Craufurd, D, Hare, M, Howard, L, Huson, S, Johnson, L, Jones, M, Krishnamoorthy, A, Murphy, H, Oughton, E, Partington-Jones, L, Rogers, D, Sollom, A, Snowden, J, Stopford, C, Thompson, J, Tinkler, P, Trender-Gerhard, I, Verstraelen, N, Westmoreland, L, Cass, G, Davidson, L, Davison, J, Fullerton, N, Holmes, K, Komati, S, McDonnell, S, Mohammed, Z, Morgan, K, Savage, L, Singh, B, Wood, J, Knight, C, O'Neill, M, Das Purkayastha, D, Nemeth, AH, Siuda, G, Valentine, R, Dixon, K, Armstrong, R, Harrison, D, Hughes, M, Large, S, Donovan, JO, Palmer, A, Parkinson, A, Soltysiak, B, Timings, L, Williams, J, Burn, J, Bailey, W, Majeed, T, Bandmann, O, Bradbury, A, Fairtlough, H, Fillingham, K, Foustanos, I, Gill, P, Kazoka, M, O'Donovan, K, Nevitt, L, Quarrell, O, Taylor, C, Tidswell, K, Agarwal, V, Anderson, M, Gunner, K, Harris, K, Hayward, E, Heywood, M, Keys, L, Kipps, C, MacKinnon, L, Smalley, S, Gowers, L, Powell, K, Bethwaite, P, Edwards, R, Fuller, K, Phillips, M, Tan, L, Lau, PN, Pica, E, Shoulson, I, Gusella, JG, Foroud, T, Antonijevic, I, vankammen, D, Dorsey, R, Warner, J, Giuliano, J, Vetter, L, Suchowersky, O, Beck, C, Oakes, D, Marshall, F, Marder, K, Frucht, S, Moskowitz, C, Clouse, R, Wasserman, P, Shannon, K, Jaglin, J, Jankovic, J, Palao, A, Harrison, M, Singer, C, Quesada, M, Hersch, S, Rosas, D, Tanev, K, Malarick, K, Colcher, A, Sanchez-Ramos, J, Kostyk, S, Paulsen, J, Perlmutter, J, Tabbal, S, Ross, C, Nucifora, F, Dubinsky, R, Dubinsky, H, Klimek, ML, Jones, R, Testa, C, Morgan, J, Mohlo, E, Kang, U, Agarwal, P, Factor, S, Jennings, D, Higgins, D, Adams, J, Frank, S, Saint-Hilaire, M, Diggin, M, Furtado, S, Walker, F, O'Neill, C, Hunt, V, Quaid, K, LeDoux, M, Raymond, L, Leavitt, B, Decolongon, J, Perlman, S, Peavy, G, Goldstein, J, Kumar, R, McCusker, E, Griffith, J, Loy, C, Wheelock, V, Tempkin, T, Martin, A, Nance, M, Mallonee, W, Suter, G, Revilla, F, Gartner, M, Drazinic, C, Fitzpatrick, MJ, Panisset, M, Duff, K, Scott, B, Weiner, W, Robottom, B, Chiu, E, Yastrubetskaya, O, Churchyard, A, Greenamyre, TJ, Robertson, S, Eaton, K, Lindsay, P, Deuel, L, MacDonald, M, Hickey, C, Muratori, L, Louis, E, Leserman, A, Doucette, N, Uc, E, Rodnitzky, R, Vik, S, Davis, R, Dietrich, S, Segro, V, Erickson, D, Lucarelli, N, Broyles, J, Delarosa, J, Panegyres, P, Schmidt, A, Barton, S, Sperin, E, Thiede, F, Zauber, SE, Wesson, M, McInnis, R, Welsh, C, Coleman, A

المصدر: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. 180(3):232-245

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:140493153

المؤلفون: Guissart, C., Cruz, E., de La, Flabeau, O., Grapperon, A. M., Corazza, G., Junilhon, L., Delmas, J. C., Millecamps, S., Polge, A., Amador, M. D. M., Salachas, F., Rochat, J., Goizet, C., Juntas Morales, R., Lumbroso, S., Philibert, P., Cheillan, D., Mouzat, K.

المساهمون: Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques (LGMR), Université Montpellier 1 (UM1)-IFR3, Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre Hospitalier Universitaire de Bordeaux (CHU Bordeaux), Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Service de Biochimie et d'Hormonologie CHU Montpellier, Hôpital Lapeyronie CHU Montpellier, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)-Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Institut de génétique humaine (IGH), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Hôpital Universitaire Carémeau Nîmes (CHU Nîmes), Université de Montpellier (UM)

المصدر: ISSN: 0022-3050.

مصطلحات موضوعية: Humans, Mutation, Als, Genetics, Amyotrophic Lateral Sclerosis/genetics, Serine C-Palmitoyltransferase/genetics, [SDV]Life Sciences [q-bio]

الاتاحة: https://hal.science/hal-04661062
https://doi.org/10.1136/jnnp-2023-331753

المؤلفون: Husson, T., Lecoquierre, F., Nicolas, G., Richard, A. C., Afenjar, A., Audebert-Bellanger, S., Badens, C., Bilan, F., Bizaoui, V., Boland, A., Bonnet-Dupeyron, M. N., Brischoux-Boucher, E., Bonnet, C., Bournez, M., Boute, O., Brunelle, P., Caumes, R., Charles, P., Chassaing, N., Chatron, N., Cogné, B., Colin, E., Cormier-Daire, V., Dard, R., Dauriat, B., Delanne, J., Deleuze, J. F., Demurger, F., Denommé-Pichon, A. S., Depienne, C., Dieux, A., Dubourg, C., Edery, P., El Chehadeh, S., Faivre, L., Fergelot, P., Fradin, M., Garde, A., Geneviève, D., Gilbert-Dussardier, B., Goizet, C., Goldenberg, A., Gouy, E., Guerrot, A. M., Guimier, A., Harzalla, I., Héron, D., Isidor, B., Lacombe, D., Le Guillou Horn, X., Keren, B., Kuechler, A., Lacaze, E., Lavillaureix, A., Lehalle, D., Lesca, G., Lespinasse, J., Levy, J., Lyonnet, S., Morel, G., Jean-Marçais, N., Marlin, S., Marsili, L., Mignot, C., Nambot, S., Nizon, M., Olaso, R., Pasquier, L., Perrin, L., Petit, Florence, Pingault, V., Piton, A., Prieur, F., Putoux, A., Planes, M., Odent, S., Quélin, C., Quemener-Redon, S., Rama, M., Rio, M., Rossi, M., Schaefer, E., Rondeau, S., Saugier-Veber, P., Smol, T., Sigaudy, S., Touraine, R., Mau-Them, F. T., Trimouille, A., Van Gils, J., Vanlerberghe, C., Vantalon, V., Vera, G., Vincent, M., Ziegler, A., Guillin, O., Campion, D., Charbonnier, C.

المساهمون: Université de Lille, CHU Lille, Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques GPMCND, Cancer and Brain Genomics CBG, Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364, CHU Rouen

وصف الملف: application/octet-stream

Relation: European Journal of Human Genetics; Eur J Hum Genet; http://hdl.handle.net/20.500.12210/93287

الاتاحة: https://hdl.handle.net/20.500.12210/93287

المؤلفون: Roux T., Barbier M., Papin M., Davoine C. -S., Sayah S., Coarelli G., Charles P., Marelli C., Parodi L., Tranchant C., Goizet C., Klebe S., Lohmann E., Van Maldergen L., van Broeckhoven C., Coutelier M., Tesson C., Stevanin G., Duyckaerts C., Brice A., Durr A., Darios F., Forlani S., Site P. -S., Banneau G., Cazeneuve C., Fontaine B., Azulay J. -P., Boesfplug-Tanguy O., Hannequin D., Hazan J., Burgo A., Verny C., Koenig M., Labauge P., N'guyen K., Rodriguez D., Belarbi S., Hamri A., Tazir M., Boesch S., Pandolfo M., Laura J., Guergueltcheva V., Tournev I., Pedraza Linares O. L., Nielsen J. E., Svenstrup K., Zaki M., Bauer P., Schols L., Schule R., Lossos A., Bassi M. -T., Basso M., Bertini E., Brusco A., Casali C., Casari G., Criscuolo C., Filla A., Orsi L., Santorelli F. M., Valente E. M., Vavla M., Vazza G., Megarbane A., Benomar A., Kremer B., Van Roon-Mom W., Roxburgh R., Erichsen A. K., Tallaksen C., Alonso I., Coutinho P., Loureiro J. L., Sequeiros J., Salih M., Kostic V. S., Rouco Axpe I., Elsayed L., Paucar M. A., Roumani S., Bing-Wen S., Reid E., Suran N., Warner T., Wood N.

المساهمون: Roux, T., Barbier, M., Papin, M., Davoine, C. -S., Sayah, S., Coarelli, G., Charles, P., Marelli, C., Parodi, L., Tranchant, C., Goizet, C., Klebe, S., Lohmann, E., Van Maldergen, L., van Broeckhoven, C., Coutelier, M., Tesson, C., Stevanin, G., Duyckaerts, C., Brice, A., Durr, A., Darios, F., Forlani, S., Site, P. -S., Banneau, G., Cazeneuve, C., Fontaine, B., Azulay, J. -P., Boesfplug-Tanguy, O., Hannequin, D., Hazan, J., Burgo, A., Verny, C., Koenig, M., Labauge, P., N'Guyen, K., Rodriguez, D., Belarbi, S., Hamri, A., Tazir, M., Boesch, S., Pandolfo, M., Laura, J., Guergueltcheva, V., Tournev, I., Pedraza Linares, O. L., Nielsen, J. E., Svenstrup, K., Zaki, M., Bauer, P., Schols, L., Schule, R., Lossos, A., Bassi, M. -T., Basso, M., Bertini, E., Brusco, A., Casali, C., Casari, G., Criscuolo, C., Filla, A., Orsi, L., Santorelli, F. M., Valente, E. M., Vavla, M., Vazza, G., Megarbane, A., Benomar, A., Kremer, B., Van Roon-Mom, W., Roxburgh, R., Erichsen, A. K., Tallaksen, C., Alonso, I., Coutinho, P., Loureiro, J. L., Sequeiros, J., Salih, M., Kostic, V. S., Rouco Axpe, I., Elsayed, L., Paucar, M. A., Roumani, S., Bing-Wen, S., Reid, E., Suran, N., Warner, T., Wood, N.

مصطلحات موضوعية: cognitive impairment, SCA48, SCAR16, spinocerebellar ataxia, STUB1, ATP-Dependent Protease, ATPases Associated with Diverse Cellular Activitie, Ataxia, Female, Human, Male, Ubiquitin-Protein Ligase, Cerebellar Ataxia, Cognitive Dysfunction, Spinocerebellar Ataxias

Relation: info:eu-repo/semantics/altIdentifier/pmid/32713943; info:eu-repo/semantics/altIdentifier/wos/WOS:000553063200001; volume:22; issue:11; firstpage:1851; lastpage:1862; numberofpages:12; journal:GENETICS IN MEDICINE; https://hdl.handle.net/11573/1638822; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85088563670

الاتاحة: https://hdl.handle.net/11573/1638822
https://doi.org/10.1038/s41436-020-0899-x

المؤلفون: Charif M., Chevrollier A., Gueguen N., Bris C., Goudenege D., Desquiret-Dumas V., Leruez S., Colin E., Meunier A., Vignal C., Smirnov V., Defoort-Dhellemmes S., Drumare Bouvet I., Goizet C., Votruba M., Jurkute N., Yu-Wai-Man P., Tagliavini F., Caporali L., La Morgia C., Carelli V., Procaccio V., Zanlonghi X., Meunier I., Reynier P., Bonneau D., Amati-Bonneau P., Lenaers G.

المساهمون: Charif M., Chevrollier A., Gueguen N., Bris C., Goudenege D., Desquiret-Dumas V., Leruez S., Colin E., Meunier A., Vignal C., Smirnov V., Defoort-Dhellemmes S., Drumare Bouvet I., Goizet C., Votruba M., Jurkute N., Yu-Wai-Man P., Tagliavini F., Caporali L., La Morgia C., Carelli V., Procaccio V., Zanlonghi X., Meunier I., Reynier P., Bonneau D., Amati-Bonneau P., Lenaers G.

مصطلحات موضوعية: DOA, AFG3L2, SPG7, optic atrophy

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/32548275; info:eu-repo/semantics/altIdentifier/wos/WOS:000549921400011; volume:6; issue:3; firstpage:1; lastpage:10; numberofpages:10; journal:NEUROLOGY. GENETICS; https://hdl.handle.net/11585/794081; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85093931635; https://ng.neurology.org/content/6/3/e428

الاتاحة: https://hdl.handle.net/11585/794081
https://doi.org/10.1212/NXG.0000000000000428
https://ng.neurology.org/content/6/3/e428

المؤلفون: Pujol, C., Legrand, A., Parodi, L., Thomas, P., Mochel, F., Saracino, D., Coarelli, G., Croon, M., Popovic, M., Valet, M., Villain, N., Elshafie, S., Issa, M., Zuily, S., Renaud, M., Marelli-Tosi, C., Legendre, M., Trimouille, A., Kemlin, I., Mathieu, S., Gleeson, J.G., Lamari, F., Galatolo, D., Alkouri, R., Tse, C., Rodriguez, D., Ewenczyk, C., Fellmann, F., Kuntzer, T., Blond, E., El Hachimi, K.H., Darios, F., Seyer, A., Gazi, A.D., Giavalisco, P., Perin, S., Boucher, J.L., Le Corre, L., Santorelli, F.M., Goizet, C., Zaki, M.S., Picaud, S., Mourier, A., Steculorum, S.M., Mignot, C., Durr, A., Trifunovic, A., Stevanin, G.

المصدر: The Journal of experimental medicine, vol. 218, no. 11, pp. e20210846

مصطلحات موضوعية: Animals, Biomarkers/metabolism, Brain/metabolism, Cytochrome P450 Family 2/genetics, Cytochrome P450 Family 2/metabolism, Disease Models, Animal, Folic Acid/pharmacology, Folic Acid Deficiency/genetics, Folic Acid Deficiency/metabolism, Humans, Mice, Inbred C57BL, Knockout, Mitochondria/genetics, Mitochondria/metabolism, Mutation/genetics, Phenotype, Proteomics/methods

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/34546337; info:eu-repo/semantics/altIdentifier/eissn/1540-9538; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_D2C532F466342; https://serval.unil.ch/notice/serval:BIB_D2C532F46634; https://serval.unil.ch/resource/serval:BIB_D2C532F46634.P001/REF.pdf

الاتاحة: https://serval.unil.ch/notice/serval:BIB_D2C532F46634
https://doi.org/10.1084/jem.20210846
https://serval.unil.ch/resource/serval:BIB_D2C532F46634.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_D2C532F466342

المؤلفون: Pelletier, F, Perrier, S, Cayami, FK, Mirchi, A, Saikali, S, Tran, LT, Ulrick, N, Guerrero, K, Rampakakis, E, van Spaendonk, RML, Naidu, S, Pohl, D, Gibson, WT, Demos, M, Goizet, C, Tejera-Martin, I, Potic, A, Fogel, BL, Brais, B, Sylvain, M, Sébire, G, Lourenço, CM, Bonkowsky, JL, Catsman-Berrevoets, C, Pinto, PS, Tirupathi, S, Strømme, P, de Grauw, T, Gieruszczak-Bialek, D, Krägeloh-Mann, I, Mierzewska, H, Philippi, H, Rankin, J, Atik, T, Banwell, B, Benko, WS, Blaschek, A, Bley, A, Boltshauser, E, Bratkovic, D, Brozova, K, Cimas, I, Clough, C, Corenblum, B, Dinopoulos, A, Dolan, G, Faletra, F, Fernandez, R, Fletcher, J, Garcia Garcia, ME, Gasparini, P, Gburek-Augustat, J, Gonzalez Moron, D, Hamati, A, Harting, I, Hertzberg, C, Hill, A, Hobson, GM, Innes, AM, Kauffman, M, Kirwin, SM, Kluger, G, Kolditz, P, Kotzaeridou, U, La Piana, R, Liston, E, McClintock, W, McEntagart, M, McKenzie, F, Melançon, S, Misbahuddin, A, Suri, M, Monton, FI, Moutton, S, Murphy, RPJ, Nickel, M, Onay, H, Orcesi, S, Özkınay, F, Patzer, S, Pedro, H, Pekic, S, Pineda Marfa, M, Pizzino, A, Plecko, B, Poll-The, BT, Popovic, V, Rating, D, Rioux, M-F, Rodriguez Espinosa, N, Ronan, A, Ostergaard, JR, Rossignol, E, Sanchez-Carpintero, R, Schossig, A, Senbil, N, Sønderberg Roos, LK, Stevens, CA, Synofzik, M, Sztriha, L, Tibussek, D, Timmann, D, Tonduti, D, van de Warrenburg, BP, Vázquez-López, M, Venkateswaran, S, Wasling, P, Wassmer, E, Webster, RI, Wiegand, G, Yoon, G, Rotteveel, J, Schiffmann, R, van der Knaap, MS, Vanderver, A, Martos-Moreno, GÁ, Polychronakos, C, Wolf, NI, Bernard, G

وصف الملف: application/pdf

Relation: https://openaccess.sgul.ac.uk/id/eprint/113253/1/dgaa700.pdf; Pelletier, F; Perrier, S; Cayami, FK; Mirchi, A; Saikali, S; Tran, LT; Ulrick, N; Guerrero, K; Rampakakis, E; van Spaendonk, RML; et al. Pelletier, F; Perrier, S; Cayami, FK; Mirchi, A; Saikali, S; Tran, LT; Ulrick, N; Guerrero, K; Rampakakis, E; van Spaendonk, RML; Naidu, S; Pohl, D; Gibson, WT; Demos, M; Goizet, C; Tejera-Martin, I; Potic, A; Fogel, BL; Brais, B; Sylvain, M; Sébire, G; Lourenço, CM; Bonkowsky, JL; Catsman-Berrevoets, C; Pinto, PS; Tirupathi, S; Strømme, P; de Grauw, T; Gieruszczak-Bialek, D; Krägeloh-Mann, I; Mierzewska, H; Philippi, H; Rankin, J; Atik, T; Banwell, B; Benko, WS; Blaschek, A; Bley, A; Boltshauser, E; Bratkovic, D; Brozova, K; Cimas, I; Clough, C; Corenblum, B; Dinopoulos, A; Dolan, G; Faletra, F; Fernandez, R; Fletcher, J; Garcia Garcia, ME; Gasparini, P; Gburek-Augustat, J; Gonzalez Moron, D; Hamati, A; Harting, I; Hertzberg, C; Hill, A; Hobson, GM; Innes, AM; Kauffman, M; Kirwin, SM; Kluger, G; Kolditz, P; Kotzaeridou, U; La Piana, R; Liston, E; McClintock, W; McEntagart, M; McKenzie, F; Melançon, S; Misbahuddin, A; Suri, M; Monton, FI; Moutton, S; Murphy, RPJ; Nickel, M; Onay, H; Orcesi, S; Özkınay, F; Patzer, S; Pedro, H; Pekic, S; Pineda Marfa, M; Pizzino, A; Plecko, B; Poll-The, BT; Popovic, V; Rating, D; Rioux, M-F; Rodriguez Espinosa, N; Ronan, A; Ostergaard, JR; Rossignol, E; Sanchez-Carpintero, R; Schossig, A; Senbil, N; Sønderberg Roos, LK; Stevens, CA; Synofzik, M; Sztriha, L; Tibussek, D; Timmann, D; Tonduti, D; van de Warrenburg, BP; Vázquez-López, M; Venkateswaran, S; Wasling, P; Wassmer, E; Webster, RI; Wiegand, G; Yoon, G; Rotteveel, J; Schiffmann, R; van der Knaap, MS; Vanderver, A; Martos-Moreno, GÁ; Polychronakos, C; Wolf, NI; Bernard, G (2021) Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C. J Clin Endocrinol Metab, 106 (2). e660-e674. ISSN 1945-7197 https://doi.org/10.1210/clinem/dgaa700 SGUL Authors: McEntagart, Meriel

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/113253/
https://openaccess.sgul.ac.uk/id/eprint/113253/1/dgaa700.pdf

المؤلفون: Junqua, N., Legallois, D., Segard, S., Lairez, O., Réant, P., Goizet, C., Maillard, H., Charron, P., Milliez, P., Labombarda, F.

المصدر: Archives of Cardiovascular Diseases Supplements ; volume 13, issue 1, page 22 ; ISSN 1878-6480

الاتاحة: http://dx.doi.org/10.1016/j.acvdsp.2020.10.083
https://api.elsevier.com/content/article/PII:S1878648020302779?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1878648020302779?httpAccept=text/plain

المؤلفون: Tulli S., Del Bondio A., Baderna V., Mazza D., Codazzi F., Pierson T. M., Ambrosi A., Nolte D., Goizet C., Toro C., Baets J., Deconinck T., Dejonghe P., Mandich P, Casari G., Maltecca F.

المساهمون: Tulli, S., Del Bondio, A., Baderna, V., Mazza, D., Codazzi, F., Pierson, T. M., Ambrosi, A., Nolte, D., Goizet, C., Toro, C., Baets, J., Deconinck, T., Dejonghe, P., Mandich, P, Casari, G., Maltecca, F.

مصطلحات موضوعية: cell biology, genetic, mitochondria, molecular genetic, movement disorders (other than parkinsons)

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/30910913; info:eu-repo/semantics/altIdentifier/wos/WOS:000478880800002; volume:56 (8); firstpage:499; lastpage:511; numberofpages:13; journal:JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/11567/963787; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85063429715

الاتاحة: http://hdl.handle.net/11567/963787
https://doi.org/10.1136/jmedgenet-2018-105766

المؤلفون: Alkhalifa A., Chen S., Hasiloglu Z. I., Filosto M., Cali E., Houlden H., Sgobbi de Souza P., Alavi A., Goizet C., Stevanin G., Taithe F., Nicita F., Vasco G., Tozza S., Cocozza S., Carboni N., Figus A., Wu J., Basak A. N., Brais B., Rouleau G., La Piana R.

المساهمون: Alkhalifa A., Chen S., Hasiloglu Z. I., Filosto M., Cali E., Houlden H., Sgobbi de Souza P., Alavi A., Goizet C., Stevanin G., Taithe F., Nicita F., Vasco G., Tozza S., Cocozza S., Carboni N., Figus A., Wu J., Basak A. N., Brais B., Rouleau G., La Piana R.

مصطلحات موضوعية: CAPN1, Hereditary spastic paraplegia, SPG76, White matter abnormalities

Relation: info:eu-repo/semantics/altIdentifier/pmid/37578488; info:eu-repo/semantics/altIdentifier/wos/WOS:001048040500002; journal:JOURNAL OF NEUROLOGY; https://hdl.handle.net/11379/583686; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85167805860

الاتاحة: https://hdl.handle.net/11379/583686
https://doi.org/10.1007/s00415-023-11918-5

المؤلفون: van Markus, F, Angelini, C, Trimouille, A, Rudolf, G, Lesca, G, Goizet, C, Lasseaux, E, Arveiler, B, van Slegtenhorst, Marjon, Brooks, Alice, Abou Jamra, R, Korenke, GC, Neidhardt, J, Owczarek-Lipska, M

المصدر: van Markus , F , Angelini , C , Trimouille , A , Rudolf , G , Lesca , G , Goizet , C , Lasseaux , E , Arveiler , B , van Slegtenhorst , M , Brooks , A , Abou Jamra , R , Korenke , GC , Neidhardt , J & Owczarek-Lipska , M 2020 , ' Rare variants in the GABAA receptor subunit ? identified in patients with a wide spectrum of epileptic phenotypes ' , Molecular Genetics and Genomic Medicine , vol. 8 , no. 9 , e1388 . https://doi.org/10.1002/mgg3.1388

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/3375dbce-4513-4ff3-b4b8-6f9b1a5f6df3
https://doi.org/10.1002/mgg3.1388
https://pure.eur.nl/ws/files/48367396/Repub_130813_O-A.pdf
http://hdl.handle.net/1765/130813

المؤلفون: Duncan, AR, Vitobello, A, Collins, SC, Vancollie, VE, Lelliott, CJ, Rodan, L, Shi, J, Seman, AR, Agolini, E, Novelli, A, Prontera, P, Guillen Sacoto, MJ, Santiago-Sim, T, Trimouille, A, Goizet, C, Nizon, M, Bruel, A L, Philippe, C, Grant, PE, Wojcik, MH, Stoler, J, Genetti, CA, van Dooren, Marieke, Maas, SM, Alders, M, Faivre, L, Sorlin, A, Yoon, G, Yalcin, B, Agrawal, PB

المصدر: Duncan , AR , Vitobello , A , Collins , SC , Vancollie , VE , Lelliott , CJ , Rodan , L , Shi , J , Seman , AR , Agolini , E , Novelli , A , Prontera , P , Guillen Sacoto , MJ , Santiago-Sim , T , Trimouille , A , Goizet , C , Nizon , M , Bruel , A L , Philippe , C , Grant , PE , Wojcik , MH , Stoler , J , Genetti , CA , van Dooren , M , Maas , SM , ....

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/b4a79d0c-938d-4e7a-bf96-7faefc52d0d3
https://doi.org/10.1016/j.ajhg.2020.11.001
https://pure.eur.nl/ws/files/48398627/RePub-132482-OA.pdf
http://hdl.handle.net/1765/132482

المؤلفون: Charif, M, Chevrollier, A, Gueguen, N, Bris, C, Goudenège, D, Desquiret-Dumas, V, Leruez, S, Colin, E, Meunier, A, Vignal, C, Smirnov, V, Defoort-Dhellemmes, S, Drumare Bouvet, I, Goizet, C, Votruba, M, Jurkute, N, Yu-Wai-Man, P, Tagliavini, F, Caporali, L, La Morgia, C, Carelli, V, Procaccio, V, Zanlonghi, X, Meunier, I, Reynier, P, Bonneau, D, Amati-Bonneau, P, Lenaers, G

المصدر: Neurology Genetics , 6 (3) , Article e428. (2020)

مصطلحات موضوعية: Optic nerve, Mitochondrial disorders, Spinocerebellar ataxia, Visual loss

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10103658/1/Mutations%20in%20the%20m-AAA%20proteases%20AFG3L2%20and%20SPG7%20are%20causing%20isolated%20dominant%20optic%20atrophy.pdf; https://discovery.ucl.ac.uk/id/eprint/10103658/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10103658/1/Mutations%20in%20the%20m-AAA%20proteases%20AFG3L2%20and%20SPG7%20are%20causing%20isolated%20dominant%20optic%20atrophy.pdf
https://discovery.ucl.ac.uk/id/eprint/10103658/