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1دورية أكاديمية
المؤلفون: Mills, PB, Camuzeaux, SSM, Footitt, EJ, Mills, KA, Gissen, P, Fisher, L, Das, KB, Varadkar, SM, Zuberi, S, McWilliam, R, Stodberg, T, Plecko, B, Baumgartner, MR, Maier, O, Calvert, S, Riney, K, Wolf, NI, Livingston, JH, Bala, P, Morel, CF, Feillet, F, Raimondi, F, Del Giudice, E, Chong, WK, Pitt, M, Clayton, PT
المصدر: Brain : a journal of neurology. 137(Pt 5):1350-1360
مصطلحات موضوعية: Medicin och hälsovetenskap
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2دورية أكاديمية
المؤلفون: Boy, N., Mühlhausen, C., Maier, E.M., Ballhausen, D., Baumgartner, M.R., Beblo, S., Burgard, P., Chapman, K.A., Dobbelaere, D., Heringer-Seifert, J., Fleissner, S., Grohmann-Held, K., Hahn, G., Harting, I., Hoffmann, G.F., Jochum, F., Karall, D., Konstantopoulous, V., Krawinkel, M.B., Lindner, M., Märtner, EMC, Nuoffer, J.M., Okun, J.G., Plecko, B., Posset, R., Sahm, K., Scholl-Bürgi, S., Thimm, E., Walter, M., Williams, M., Vom Dahl, S., Ziagaki, A., Zschocke, J., Kölker, S.
المصدر: Journal of inherited metabolic disease, vol. 46, no. 3, pp. 482-519
مصطلحات موضوعية: Humans, Glutaryl-CoA Dehydrogenase, Lysine/metabolism, Brain Diseases, Metabolic/diagnosis, Metabolic/genetics, Metabolic/therapy, Amino Acid Metabolism, Inborn Errors/diagnosis, Inborn Errors/genetics, Inborn Errors/therapy, Glutarates/metabolism, glutaric aciduria type 1, guideline, management, monitoring, newborn screening, therapy
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36221165; info:eu-repo/semantics/altIdentifier/eissn/1573-2665; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_F3F865C563848; https://serval.unil.ch/notice/serval:BIB_F3F865C56384Test; urn:issn:0141-8955; https://serval.unil.ch/resource/serval:BIB_F3F865C56384.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_F3F865C563848Test
الإتاحة: https://doi.org/10.1002/jimd.12566Test
https://serval.unil.ch/notice/serval:BIB_F3F865C56384Test
https://serval.unil.ch/resource/serval:BIB_F3F865C56384.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_F3F865C563848Test -
3دورية أكاديمية
المؤلفون: Skorvanek, M, Rektorova, I, Mandemakers, W, Wagner, M, Steinfeld, R, Orec, L, Han, V, Pavelekova, P, Lackova, A, Kulcsarova, K, Ostrozovicova, M, Gdovinova, Z, Plecko, B, Brunet, T, Berutti, R, Kuipers, DJS, Boumeester, V, Havrankova, P, Tijssen, MAJ, Kaiyrzhanov, R, Rizig, M, Houlden, H, Winkelmann, J, Bonifati, V, Zech, M, Jech, R
المصدر: Parkinsonism & Related Disorders , 94 pp. 54-61. (2022)
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10177995/3/Rizig_WARS2%20mutations%20cause%20dopa-responsive%20early-onset%20parkinsonism%20and%20progressive%20myoclonus%20ataxia_AAM.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10177995Test/
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4دورية 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 -
5دورية أكاديمية
المؤلفون: Gefferie S. R., Maric A., Critelli H., Gueden S., Kurlemann G., Kurth S., Nosadini M., Plecko B., Ringli M., Rostasy K., Sartori S., Schmitt B., Suppiej A., Van Bogaert P., Wehrle F. M., Huber R., Bolsterli B. K.
المساهمون: Gefferie, S. R., Maric, A., Critelli, H., Gueden, S., Kurlemann, G., Kurth, S., Nosadini, M., Plecko, B., Ringli, M., Rostasy, K., Sartori, S., Schmitt, B., Suppiej, A., Van Bogaert, P., Wehrle, F. M., Huber, R., Bolsterli, B. K.
مصطلحات موضوعية: Encephaliti, NMDA receptor, Sleep homeostasi, Slow wave, Synaptic plasticity
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34147627; info:eu-repo/semantics/altIdentifier/wos/WOS:000681292300013; volume:239; firstpage:118281-1; lastpage:118281-10; numberofpages:10; journal:NEUROIMAGE; https://hdl.handle.net/11392/2475270Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85108333747; https://www.sciencedirect.com/science/article/pii/S1053811921005577Test
الإتاحة: https://doi.org/10.1016/j.neuroimage.2021.118281Test
https://hdl.handle.net/11392/2475270Test
https://www.sciencedirect.com/science/article/pii/S1053811921005577Test -
6دورية أكاديمية
المؤلفون: Lenaerts, L, Reynhout, S, Verbinnen, I, Laumonnier, F, Toutain, A, Bonnet-Brilhault, F, Hoorne, Y, Joss, S, Chassevent, AK, Smith-Hicks, C, Loeys, B, Joset, P, Steindl, K, Rauch, A, Mehta, SG, Chung, WK, DeVriendt, K, Holder, SE, Jewett, T, Baldwin, LM, Wilson, WG, Towner, S, Srivastava, S, Johnson, HF, Daumer-Haas, C, Baethmann, M, Ruiz, A, Gabau, E, Jain, V, Varghese, V, Al-Beshri, A, Fulton, S, Wechsberg, O, Orenstein, N, Prescott, K, Childs, AM, Faivre, L, Moutton, S, Sullivan, JA, Shashi, V, Koudijs, SM, Heijligers, M, Kivuva, E, McTague, A, Male, A, van Ierland, Yvette, Plecko, B, Maystadt, I, Hamid, R, Hannig, VL, Houge, G, Janssens, V
المصدر: Lenaerts , L , Reynhout , S , Verbinnen , I , Laumonnier , F , Toutain , A , Bonnet-Brilhault , F , Hoorne , Y , Joss , S , Chassevent , AK , Smith-Hicks , C , Loeys , B , Joset , P , Steindl , K , Rauch , A , Mehta , SG , Chung , WK , DeVriendt , K , Holder , SE , Jewett , T , Baldwin , LM , Wilson , WG , Towner , S , Srivastava , S , Johnson , HF , Daumer-Haas , C ....
مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01
الإتاحة: https://doi.org/10.1038/s41436-020-00981-2Test
https://pure.eur.nl/en/publications/dd1771c1-6507-4ca0-99eb-40b3ea93e39eTest
http://www.scopus.com/inward/record.url?scp=85093843292&partnerID=8YFLogxKTest
https://www.nature.com/articles/s41436-020-00981-2.pdfTest -
7دورية أكاديمية
المؤلفون: Coughlin, CR, Tseng, LA, Abdenur, JE, Ashmore, C, Boemer, F, Bok, LA, Boyer, M, Buhas, D, Clayton, PT, Das, A, Dekker, H, Evangeliou, A, Feillet, F, Footitt, EJ, Gospe, SM, Hartmann, H, Kara, M, Kristensen, E, Lee, J, Lilje, R, Longo, N, Lunsing, RJ, Mills, P, Papadopoulou, MT, Pearl, PL, Piazzon, F, Plecko, B, Saini, AG, Santra, S, Sjarif, DR, Stockler-Ipsiroglu, S, Striano, P, Van Hove, JLK, Verhoeven-Duif, NM, Wijburg, FA, Zuberi, SM, van Karnebeek, CDM
المصدر: Journal of Inherited Metabolic Disease , 44 (1) pp. 178-192. (2021)
مصطلحات موضوعية: ALDH7A1, Alpha aminoadipic semialdehyde, Consensus guidelines, Pyridoxine-dependent epilepsy, Pyridoxine-responsive seizures
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10115756/1/jimd.12332.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10115756Test/
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8دورية أكاديمية
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
العلاقة: https://openaccess.sgul.ac.uk/id/eprint/113253/1/dgaa700.pdfTest; 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/dgaa700Test SGUL Authors: McEntagart, Meriel
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9دورية أكاديمية
المؤلفون: Zech M., Jech R., Boesch S., ¿korvánek M., Weber S., Wagner M., Zhao C., Jochim A., Necpál J., Dincer Y., Vill K., Distelmaier F., Stoklosa M., Krenn M., Grunwald S., Bock-Bierbaum T., Fecíková A., Havránková P., Roth J., Príhodová I., Adamovicová M., Ulmanová O., Bechyne K., Danhofer P., Veselý B., Han V., Pavelekova P., Gdovinová Z., Mantel T., Meindl T., Sitzberger A., Schröder S., Blaschek A., Roser T., Bonfert M.V., Haberlandt E., Plecko B., Leineweber B., Berweck S., Herberhold T., Langguth B., ¿vantnerová J., Minár M., Ramos-Rivera G.A., Wojcik M.H., Pajusalu S., Õunap K., Schatz U.A., Pölsler L., Milenkovic I., Laccone F., Pilshofer V., Colombo R., Patzer S., Iuso A., Vera J., Troncoso M., Fang F., Prokisch H., Wilbert F., Eckenweiler M., Graf E., Westphal D.S., Riedhammer K.M., Brunet T., Alhaddad B., Berutti R., Strom T.M., Hecht M., Baumann M., Wolf M., Telegrafi A., Person R.E., Zamora F.M., Henderson L.B., Weise D., Musacchio T., Volkmann J., Szuto A., Becker J., Cremer K., Sycha T., Zimprich F., Kraus V., Makowski C., Gonzalez-Alegre P., Bardakjian T.M., Ozelius L.J., Vetro A., Guerrini R., Maier E., Borggraefe I., Kuster A., Wortmann S.B., Hackenberg A., Steinfeld R., Assmann B., Staufner C., Opladen T., Ru¿icka E., Cohn R.D., Dyment D., Chung W.K., Engels H., Ceballos-Baumann A., Ploski R., Daumke O., Haslinger B., Mall V., Oexle K., Winkelmann J.
المصدر: The Lancet Neurology
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1016/S1474-4422Test(20)30312-4
https://repositorio.uchile.cl/handle/2250/190324Test -
10دورية أكاديمية
المؤلفون: Lenaerts, L, Reynhout, S, Verbinnen, I, Laumonnier, F, Toutain, A, Bonnet-Brilhault, F, Hoorne, Y, Joss, S, Chassevent, AK, Smith-Hicks, C, Loeys, B, Joset, P, Steindl, K, Rauch, A, Mehta, SG, Chung, WK, Devriendt, K, Holder, SE, Jewett, T, Baldwin, LM, Wilson, WG, Towner, S, Srivastava, S, Johnson, HF, Daumer-Haas, C, Baethmann, M, Ruiz, A, Gabau, E, Jain, V, Varghese, V, Al-Beshri, A, Fulton, S, Wechsberg, O, Orenstein, N, Prescott, K, Childs, A-M, Faivre, L, Moutton, S, Sullivan, JA, Shashi, V, Koudijs, SM, Heijligers, M, Kivuva, E, McTague, A, Male, A, van Ierland, Y, Plecko, B, Maystadt, I, Hamid, R, Hannig, VL, Houge, G, Janssens, V
المصدر: Genetics in Medicine (2020) (In press).
مصطلحات موضوعية: PPP2R1A, PP2A, intellectual disability, neurodevelopmental disorder, epilepsy
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10114644/1/s41436-020-00981-2.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10114644Test/
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