-
1دورية أكاديمية
المؤلفون: Wilpert NM, Tonduti D, Vaia Y, Krude H, Sarret C, Schuelke M
المصدر: Neuropsychiatric Disease and Treatment, Vol Volume 19, Pp 2195-2216 (2023)
مصطلحات موضوعية: mct8 deficiency, slc16a2, ultra-rare disease, movement disorders, triac, stakeholder engagement, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
-
2دورية أكاديمية
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
-
3دورية أكاديمية
المؤلفون: Rey F., Berardo C., Maghraby E., Mauri A., Messa L., Esposito L., Casili G., Ottolenghi S., Bonaventura E., Cuzzocrea S., Zuccotti G., Tonduti D., Esposito E., Paterniti I., Cereda C., Carelli S.
المساهمون: Rey, F., Berardo, C., Maghraby, E., Mauri, A., Messa, L., Esposito, L., Casili, G., Ottolenghi, S., Bonaventura, E., Cuzzocrea, S., Zuccotti, G., Tonduti, D., Esposito, E., Paterniti, I., Cereda, C., Carelli, S.
مصطلحات موضوعية: Alzheimer’s disease, Parkinson’s disease, Pelizaeus–Merzbacher disease, X-adrenoleukodystrophies, amyotrophic lateral sclerosis, mucopolysaccharidoses, neurodegenerative diseases, neurodevelopmental disorders, oxygen, redox, spinal muscular atrophy
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37107340; info:eu-repo/semantics/altIdentifier/wos/WOS:000977150400001; volume:12; issue:4; firstpage:965; lastpage:965; numberofpages:1; journal:ANTIOXIDANTS; https://hdl.handle.net/11311/1249441Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85156200301
-
4دورية أكاديمية
المؤلفون: Faraguna M. C., Musto F., Crescitelli V., Iascone M., Spaccini L., Tonduti D., Fedeli T., Kullmann G., Canonico F., Cattoni A., Dell'acqua F., Rizzari C., Gasperini S.
المساهمون: Faraguna, M, Musto, F, Crescitelli, V, Iascone, M, Spaccini, L, Tonduti, D, Fedeli, T, Kullmann, G, Canonico, F, Cattoni, A, Dell'Acqua, F, Rizzari, C, Gasperini, S
مصطلحات موضوعية: Leukoencephalopathy, Lysosomal storage disease, Mucopolysaccharidosis-plu, Secondary hemophagocytic lymphohistiocytosi
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35327996; info:eu-repo/semantics/altIdentifier/wos/WOS:000775304500001; volume:13; issue:3; journal:GENES; http://hdl.handle.net/10281/364340Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85126482767
-
5دورية أكاديمية
المؤلفون: van Geest, FS, Groeneweg, S, van den Akker, ELT, Bacos, I, Barca, D, van den Berg, SAA, Bertini, E, Brunner, D, Brunetti-Pierri, N, Cappa, M, Cappuccio, G, Chatterjee, K, Chesover, AD, Christian, P, Coutant, R, Craiu, D, Crock, P, Dewey, C, Dica, A, Dimitri, P, Dubey, R, Enderli, A, Fairchild, J, Gallichan, J, Garibaldi, LR, George, B, Hackenberg, A, Heinrich, B, Huynh, T, Kłosowska, A, Lawson-Yuen, A, Linder-Lucht, M, Lyons, G, Monti Lora, F, Moran, C, Müller, KE, Paone, L, Paul, PG, Polak, M, Porta, F, Reinauer, C, de Rijke, YB, Seckold, R, Menevşe, TS, Simm, P, Simon, A, Spada, M, Stoupa, A, Szeifert, L, Tonduti, D, van Toor, H, Turan, S, Vanderniet, J, de Waart, M, van der Wal, R, van der Walt, A, van Wermeskerken, A-M, Wierzba, J, Zibordi, F, Zung, A, Peeters, RP, Visser, WE
العلاقة: pii: 6408637; van Geest, F. S., Groeneweg, S., van den Akker, E. L. T., Bacos, I., Barca, D., van den Berg, S. A. A., Bertini, E., Brunner, D., Brunetti-Pierri, N., Cappa, M., Cappuccio, G., Chatterjee, K., Chesover, A. D., Christian, P., Coutant, R., Craiu, D., Crock, P., Dewey, C., Dica, A. ,. Visser, W. E. (2022). Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study. Journal of Clinical Endocrinology and Metabolism, 107 (3), pp.e1136-e1147. https://doi.org/10.1210/clinem/dgab750Test.; http://hdl.handle.net/11343/307712Test
-
6دورية أكاديمية
المؤلفون: Garau J., Masnada S., Dragoni F., Sproviero D., Fogolari F., Gagliardi S., Izzo G., Varesio C., Orcesi S., Veggiotti P., Zuccotti G. V., Pansarasa O., Tonduti D., Cereda C.
المساهمون: Garau, J., Masnada, S., Dragoni, F., Sproviero, D., Fogolari, F., Gagliardi, S., Izzo, G., Varesio, C., Orcesi, S., Veggiotti, P., Zuccotti, G. V., Pansarasa, O., Tonduti, D., Cereda, C.
مصطلحات موضوعية: Aicardi–Goutières Syndrome, genetic, next generation sequencing, novel mutation, RNASEH2B
العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000648608600001; volume:12; journal:FRONTIERS IN IMMUNOLOGY; http://hdl.handle.net/11390/1207442Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85105598867
-
7دورية أكاديمية
المؤلفون: Garau J., Sproviero D., Dragoni F., Piscianz E., Santonicola C., Tonduti D., Carelli S., Tesser A., Zuccotti G. V., Tommasini A., Orcesi S., Pansarasa O., Cereda C.
المساهمون: Garau, J., Sproviero, D., Dragoni, F., Piscianz, E., Santonicola, C., Tonduti, D., Carelli, S., Tesser, A., Zuccotti, G. V., Tommasini, A., Orcesi, S., Pansarasa, O., Cereda, C.
مصطلحات موضوعية: Hydroxychloroquine, Aicardi Goutières Syndrome
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33707687; info:eu-repo/semantics/altIdentifier/wos/WOS:000627673600001; volume:18; issue:6; firstpage:1593; lastpage:1595; numberofpages:3; journal:CELLULAR & MOLECULAR IMMUNOLOGY; http://hdl.handle.net/11368/2985419Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85102626926; https://www.nature.com/articles/s41423-021-00657-0Test
الإتاحة: https://doi.org/10.1038/s41423-021-00657-0Test
http://hdl.handle.net/11368/2985419Test
https://www.nature.com/articles/s41423-021-00657-0Test -
8دورية أكاديمية
المؤلفون: Rice G. I., Park S., Gavazzi F., Adang L. A., Ayuk L. A., Van Eyck L., Seabra L., Barrea C., Battini R., Belot A., Berg S., Billette de Villemeur T., Bley A. E., Blumkin L., Boespflug-Tanguy O., Briggs T. A., Brimble E., Dale R. C., Darin N., Debray F. -G., De Giorgis V., Denecke J., Doummar D., Drake af Hagelsrum G., Eleftheriou D., Estienne M., Fazzi E., Feillet F., Galli J., Hartog N., Harvengt J., Heron B., Heron D., Kelly D. A., Lev D., Levrat V., Livingston J. H., Marti I., Mignot C., Mochel F., Nougues M. -C., Oppermann I., Perez-Duenas B., Popp B., Rodero M. P., Rodriguez D., Saletti V., Sharpe C., Tonduti D., Vadlamani G., Van Haren K., Tomas Vila M., Vogt J., Wassmer E., Wiedemann A., Wilson C. J., Zerem A., Zweier C., Zuberi S. M., Orcesi S., Vanderver A. L., Hur S., Crow Y. J.
المساهمون: Rice, G. I., Park, S., Gavazzi, F., Adang, L. A., Ayuk, L. A., Van Eyck, L., Seabra, L., Barrea, C., Battini, R., Belot, A., Berg, S., Billette de Villemeur, T., Bley, A. E., Blumkin, L., Boespflug-Tanguy, O., Briggs, T. A., Brimble, E., Dale, R. C., Darin, N., Debray, F. -G., De Giorgis, V., Denecke, J., Doummar, D., Drake af Hagelsrum, G., Eleftheriou, D., Estienne, M., Fazzi, E., Feillet, F., Galli, J., Hartog, N., Harvengt, J., Heron, B., Heron, D., Kelly, D. A., Lev, D., Levrat, V., Livingston, J. H., Marti, I., Mignot, C., Mochel, F., Nougues, M. -C., Oppermann, I., Perez-Duenas, B., Popp, B., Rodero, M. P., Rodriguez, D., Saletti, V., Sharpe, C., Tonduti, D., Vadlamani, G., Van Haren, K., Tomas Vila, M., Vogt, J., Wassmer, E., Wiedemann, A., Wilson, C. J., Zerem, A., Zweier, C., Zuberi, S. M., Orcesi, S., Vanderver, A. L., Hur, S., Crow, Y. J.
مصطلحات موضوعية: Aicardi–Goutières syndrome, IFIH1, MDA5, Singleton Merten syndrome, Type I interferonopathy
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31898846; info:eu-repo/semantics/altIdentifier/wos/WOS:000506940000001; volume:41; issue:4; firstpage:837; lastpage:849; numberofpages:13; journal:HUMAN MUTATION; http://hdl.handle.net/11568/1071295Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85078038174
-
9دورية أكاديمية
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
العلاقة: 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/11368/2980250Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85097520880; https://academic.oup.com/jcem/article/106/2/e660/5917135Test
الإتاحة: https://doi.org/10.1210/clinem/dgaa700Test
http://hdl.handle.net/11368/2980250Test
https://academic.oup.com/jcem/article/106/2/e660/5917135Test -
10دورية أكاديمية
المؤلفون: Longo S., Caporali C., Pisoni C., Borghesi A., Perotti G., Tritto G., Olivieri I., La Piana R., Tonduti D., Decio A., Ariaudo G., Spairani S., Naboni C., Gardella B., Spinillo A., Manzoni F., Tinelli C., Stronati M., Orcesi S.
المساهمون: S. Longo, C. Caporali, C. Pisoni, A. Borghesi, G. Perotti, G. Tritto, I. Olivieri, R. La Piana, D. Tonduti, A. Decio, G. Ariaudo, S. Spairani, C. Naboni, B. Gardella, A. Spinillo, F. Manzoni, C. Tinelli, M. Stronati, S. Orcesi
مصطلحات موضوعية: Adult, Cerebral Palsy, Cohort Studie, Developmental Disabilitie, Female, Gestational Age, Human, Infant, Premature, Very Low Birth Weight, Italy, Longitudinal Studie, Male, Neurodevelopmental Disorder, Neurologic Examination, Tertiary Care Centers, Settore MED/39 - Neuropsichiatria Infantile
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34381139; info:eu-repo/semantics/altIdentifier/wos/WOS:000684343800028; volume:11; issue:1; firstpage:1; lastpage:10; numberofpages:10; journal:SCIENTIFIC REPORTS; https://hdl.handle.net/2434/938713Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85112297935
النص الكامل