المؤلفون: Labella Álvarez, F., Fernández-Ramos, J.A., Camino León, R., Ibarra de la Rosa, E., López Laso, E.

المصدر: Neurología (English Edition) ; volume 39, issue 2, page 105-116 ; ISSN 2173-5808

الاتاحة: http://dx.doi.org/10.1016/j.nrleng.2024.01.004
https://api.elsevier.com/content/article/PII:S2173580824000208?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2173580824000208?httpAccept=text/plain

المؤلفون: Labella Álvarez, F., Fernández-Ramos, J.A., Camino León, R., Ibarra de la Rosa, E., López Laso, E.

المصدر: Neurología ; volume 39, issue 2, page 105-116 ; ISSN 0213-4853

الاتاحة: http://dx.doi.org/10.1016/j.nrl.2021.04.013
https://api.elsevier.com/content/article/PII:S0213485321000852?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0213485321000852?httpAccept=text/plain

المؤلفون: Opladen T., Lopez-Laso E., Cortes-Saladelafont E., Pearson T. S., Sivri H. S., Yildiz Y., Assmann B., Kurian M. A., Leuzzi V., Heales S., Pope S., Porta F., Garcia-Cazorla A., Honzik T., Pons R., Regal L., Goez H., Artuch R., Hoffmann G. F., Horvath G., Thony B., Scholl-Burgi S., Burlina A., Verbeek M. M., Mastrangelo M., Friedman J., Wassenberg T., Jeltsch K., Kulhanek J., Kuseyri Hubschmann O.

المساهمون: Opladen, T., Lopez-Laso, E., Cortes-Saladelafont, E., Pearson, T. S., Sivri, H. S., Yildiz, Y., Assmann, B., Kurian, M. A., Leuzzi, V., Heales, S., Pope, S., Porta, F., Garcia-Cazorla, A., Honzik, T., Pons, R., Regal, L., Goez, H., Artuch, R., Hoffmann, G. F., Horvath, G., Thony, B., Scholl-Burgi, S., Burlina, A., Verbeek, M. M., Mastrangelo, M., Friedman, J., Wassenberg, T., Jeltsch, K., Kulhanek, J., Kuseyri Hubschmann, O.

مصطلحات موضوعية: 6-pyruvoyltetrahydropterin synthase deficiency, BH, Consensus guideline, Dihydropteridine reductase deficiency, Guanosine triphosphate cyclohydrolase deficiency, Hyperphenylalaninemia, iNTD, Neurotransmitter, Sepiapterin reductase deficiency, pterin-4-alpha-carbinolamine dehydratase deficiency, SIGN, Tetrahydrobiopterin deficiency

Time: 4

Relation: info:eu-repo/semantics/altIdentifier/pmid/32456656; info:eu-repo/semantics/altIdentifier/wos/WOS:000537854200002; volume:15; issue:1; numberofpages:30; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/11573/1471064; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85085540040

الاتاحة: http://hdl.handle.net/11573/1471064
https://doi.org/10.1186/s13023-020-01379-8

المؤلفون: Opladen T., Lopez-Laso E., Cortes-Saladelafont E., Pearson T. S., Sivri H. S., Yildiz Y., Assmann B., Kurian M. A., Leuzzi V., Heales S., Pope S., Porta F., Garcia-Cazorla A., Honzik T., Pons R., Regal L., Goez H., Artuch R., Hoffmann G. F., Horvath G., Thony B., Scholl-Burgi S., Burlina A., Verbeek M. M., Mastrangelo M., Friedman J., Wassenberg T., Jeltsch K., Kulhanek J., Kuseyri Hubschmann O.

المساهمون: Opladen, T., Lopez-Laso, E., Cortes-Saladelafont, E., Pearson, T. S., Sivri, H. S., Yildiz, Y., Assmann, B., Kurian, M. A., Leuzzi, V., Heales, S., Pope, S., Porta, F., Garcia-Cazorla, A., Honzik, T., Pons, R., Regal, L., Goez, H., Artuch, R., Hoffmann, G. F., Horvath, G., Thony, B., Scholl-Burgi, S., Burlina, A., Verbeek, M. M., Mastrangelo, M., Friedman, J., Wassenberg, T., Jeltsch, K., Kulhanek, J., Kuseyri Hubschmann, O.

مصطلحات موضوعية: Tetrahydrobiopterin deficiency, BH4, Neurotransmitter, Guanosine triphosphate cyclohydrolase deficiency

Relation: info:eu-repo/semantics/altIdentifier/pmid/32758270; info:eu-repo/semantics/altIdentifier/wos/WOS:000560827200002; volume:15; issue:1; numberofpages:5; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/11573/1471035; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85089171611

الاتاحة: http://hdl.handle.net/11573/1471035
https://doi.org/10.1186/s13023-020-01464-y

المؤلفون: Hübschmann, OK, Horvath, G, Cortès-Saladelafont, E, Yildiz, Y, Mastrangelo, M, Pons, R, Friedman, J, Mercimek-Andrews, S, Wong, S-N, Pearson, TS, Zafeiriou, D, Kulhánek, J, Kurian, MA, López-Laso, E, Oppebøen, M, Kilavuz, S, Wassenberg, T, Goez, H, Scholl-Bürgi, S, Porta, F, Honzík, T, Santer, R, Burlina, A, Sivri, HS, Leuzzi, V, Hoffmann, GF, Jeltsch, K, Hübschmann, D, Garbade, SF, García-Cazorla, A, Opladen, T

المصدر: Nature Communications , 12 , Article 5529. (2021)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10135974/1/Kurian_s41467-021-25515-5.pdf; https://discovery.ucl.ac.uk/id/eprint/10135974/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10135974/1/Kurian_s41467-021-25515-5.pdf
https://discovery.ucl.ac.uk/id/eprint/10135974/

المؤلفون: Keller, M, Brennenstuhl, H, Kuseyri Hübschmann, O, Manti, F, Julia Palacios, NA, Friedman, J, Yıldız, Y, Koht, JA, Wong, S-N, Zafeiriou, DI, López-Laso, E, Pons, R, Kulhánek, J, Jeltsch, K, Serrano-Lomelin, J, Garbade, SF, Opladen, T, Goez, H, International Working Group on Neurotransmitter related Disorder, Burlina, A, Cortès-Saladelafont, E, Fernández Ramos, JA, García-Cazorla, A, Hoffmann, GF, Kiat Hong, ST, Honzík, T, Kavecan, I, Kurian, MA, Leuzzi, V, Lücke, T, Manzoni, F, Mastrangelo, M, Mercimek-Andrews, S, Mir, P, Oppebøen, M, Pearson, TS, Sivri, HS, Steel, D, Stevanović, G, Fung, C-W

المصدر: Journal of Inherited Metabolic Disease , 44 (6) pp. 1489-1502. (2021)

مصطلحات موضوعية: Neurotransmitter deficiencies, behavioral phenotype, cognitive impairment, intelligence, quality of life, iNTD

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10131974/1/Kurian_jimd.12416.pdf; https://discovery.ucl.ac.uk/id/eprint/10131974/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10131974/1/Kurian_jimd.12416.pdf
https://discovery.ucl.ac.uk/id/eprint/10131974/

المؤلفون: Opladen, T, López-Laso, E, Cortès-Saladelafont, E, Pearson, TS, Sivri, HS, Yildiz, Y, Assmann, B, Kurian, MA, Leuzzi, V, Heales, S, Pope, S, Porta, F, García-Cazorla, A, Honzík, T, Pons, R, Regal, L, Goez, H, Artuch, R, Hoffmann, GF, Horvath, G, Thöny, B, Scholl-Bürgi, S, Burlina, A, Verbeek, MM, Mastrangelo, M, Friedman, J, Wassenberg, T, Jeltsch, K, Kulhánek, J, Kuseyri Hübschmann, O, International Working Group on Neurotransmitter related Disorder, .

المصدر: Orphanet Journal of Rare Diseases , 15 (1) , Article 126. (2020)

مصطلحات موضوعية: 6-pyruvoyltetrahydropterin synthase deficiency, (BH₄), Consensus guidelines, Dihydropteridine reductase deficiency, Guanosine triphosphate cyclohydrolase deficiency, Hyperphenylalaninemia, Neurotransmitter, SIGN, Sepiapterin reductase deficiency, pterin-4-alpha-carbinolamine dehydratase deficiency, Tetrahydrobiopterin deficiency, iNTD

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10099255/1/Kurian_Consensus%20guideline%20for%20the%20diagnosis%20and%20treatment%20of%20tetrahydrobiopterin%20%28BH%E2%82%84%29%20deficiencies_VoR.pdf; https://discovery.ucl.ac.uk/id/eprint/10099255/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10099255/1/Kurian_Consensus%20guideline%20for%20the%20diagnosis%20and%20treatment%20of%20tetrahydrobiopterin%20%28BH%E2%82%84%29%20deficiencies_VoR.pdf
https://discovery.ucl.ac.uk/id/eprint/10099255/

المؤلفون: Marques, R, Belousoye, E, Benedik, MP, Carter, T, Cottin, V, Curatolo, P, Dahlin, M, D'Amato, L, d'Augeres, GB, de Vries, PJ, Ferreira, JC, Feucht, M, Fladrowski, C, Hertzberg, C, Jozwiak, S, Lawson, JA, Macaya, A, Nabbout, R, O'Callaghan, F, Qin, J, Sander, V, Sauter, M, Shah, S, Takahashi, Y, Touraine, R, Youroukos, S, Zonnenberg, B, Kingswood, JC, Jansen, AC, Shinohara, N, LIorie, S, Kubota, M, Tohyama, J, Imai, K, Kaneda, M, Kaneko, H, Uchida, Y, Kirino, T, Endo, S, Inoue, Y, Uruno, K, Serdaroglu, A, Yapici, Z, Anlar, B, Altunbasak, S, Lvova, O, Belyaev, OV, Agranovich, O, Levitina, EV, Maksimova, YV, Karas, A, Jiang, Y, Zou, L, Xu, K, Zhang, Y, Luan, G, Wang, Y, Jin, M, Ye, D, Liao, W, Zhou, L, Liu, J, Liao, J, Yan, B, Deng, Y, Jiang, L, Liu, Z, Huang, S, Li, H, Kim, K, Chen, P-L, Lee, H-F, Tsai, J-D, Chi, C-S, Huang, C-C, Riney, AK, Yates, D, Kwan, P, Likasitwattanakul, S, Nabangchang, C, Chomtho, LTK, Katanyuwong, K, Sriudomkajorn, S, Wilmshurst, J, Segel, R, Gilboa, T, Tzadok, M, Fattal-Valevski, A, Papathanasopoulos, P, Papavasiliou, AS, Giannakodimos, S, Gatzonis, S, Pavlou, E, Tzoufi, M, Vergeer, AMM, Dhooghe, M, Verhelst, H, Roelens, F, Nassogne, MC, Defresne, P, De Waele, L, Leroy, P, Demonceau, N, Legros, B, Van Bogaert, P, Ceulemans, B, Dom, L, Castelnau, P, Martin, ADS, Riquet, A, Milh, M, Cances, C, Pedespan, J-M, Ville, D, Roubertie, A, Auvin, S, Berquin, P, Richelme, C, Allaire, C, Gueden, S, Tich, SNT, Godet, B, Falco Rojas, MLR, Campistol Planas, J, Martinez Bermejo, A, Smeyers Dura, P, Roldan Aparicio, S, Martinez Gonzalez, MJ, Lopez Pison, J, Blanco Barca, MO, Lopez Laso, E, Alonso Luengo, O, Aguirre Rodriguez, FJ, Malaga Dieguez, I, Camacho Salas, A, Marti Carrera, I, Martinez Salcedo, E, Yoldi Petri, ME, Cancho Candela, R, Carrilho, IDC, Vieira, JP, da Silva Oliveira Monteiro, JP, de Oliveira Ferreira Leao, MJS, Marceano Ribeiro Luis, CS, Mendonca, CP, Endziniene, M, Strautmanis, J, Talvik, I, Canevini, MP, Gambardella, A, Pruna, D, Buono, S, Fontana, E, Dalla Bernardina, B, Burloiu, C, Cosma, ISB, Vintan, MA, Popescu, L, Zitterbart, K, Payerova, J, Bratsky, L, Zilinska, Z, Gruber-Sedlmayr, U, Baumann, M, Laberlandt, E, Rostasy, K, Pataraia, E, Elmslie, F, Johnston, CA, Crawford, P, Uldall, P, Uvebrant, P, Rask, O, Bjoernvold, M, Brodtkorb, E, Sloerdahi, A, Solhoff, R, Jaatun, MSG, Mandera, M, Radzikowska, EJ, Wysocki, M, Fischereder, M, Kurlemann, G, Wilken, B, Wiemer-Kruel, A, Budde, K, Marquard, K, Knuf, M, Hahn, A, Hartmann, H, Merkenschlager, A, Trollmann, R

المصدر: Frontiers in Neurology , 10 , Article 1144. (2019)

مصطلحات موضوعية: TSC, resource use, TOSCA, management, registry, rare diseases

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10086259/1/fneur-10-01144.pdf; https://discovery.ucl.ac.uk/id/eprint/10086259/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10086259/1/fneur-10-01144.pdf
https://discovery.ucl.ac.uk/id/eprint/10086259/

المؤلفون: Jansen, AC, Belousova, E, Benedik, MP, Carter, T, Cottin, V, Curatolo, P, D'Amato, L, d'Augeres, GB, de Vries, PJ, Ferreira, JC, Feucht, M, Fladrowski, C, Hertzberg, C, Jozwiak, S, Lawson, JA, Macaya, A, Marques, R, Nabbout, R, O'Callaghan, F, Qin, J, Sander, V, Sauter, M, Shah, S, Takahashi, Y, Touraine, R, Youroukos, S, Zonnenberg, B, Kingswood, JC, Shinohara, N, Horie, S, Kubota, M, Tohyama, J, Imai, K, Kaneda, M, Kaneko, H, Uchida, Y, Kirino, T, Endo, S, Inoue, Y, Uruno, K, Serdaroglu, A, Yapici, Z, Anlar, B, Altunbasak, S, Lvova, O, Belyaev, OV, Agranovich, O, Levitina, EV, Maksimova, YV, Karas, A, Jiang, Y, Zou, L, Xu, K, Zhang, Y, Luan, G, Wang, Y, Jin, M, Ye, D, Liao, W, Zhou, L, Liu, J, Liao, J, Yan, B, Deng, Y, Jiang, L, Liu, Z, Huang, S, Li, H, Kim, K, Chen, P-L, Lee, H-F, Tsai, J-D, Chi, C-S, Huang, C-C, Riney, K, Yates, D, Kwan, P, Likasitwattanakul, S, Nabangchang, C, Chomtho, LTK, Katanyuwong, K, Sriudomkajorn, S, Wilmshurst, J, Segel, R, Gilboa, T, Tzadok, M, Fattal-Valevski, A, Papathanasopoulos, P, Papavasiliou, AS, Giannakodimos, S, Gatzonis, S, Pavlou, E, Tzoufi, M, Vergeer, AMH, Dhooghe, M, Verhelst, H, Roelens, F, Nassogne, MC, Defresne, P, De Waele, L, Leroy, P, Demonceau, N, Legros, B, Van Bogaert, P, Ceulemans, B, Dom, L, Castelnau, P, Martin, ADS, Riquet, A, Milh, M, Cances, C, Pedespan, J-M, Ville, D, Roubertie, A, Auvin, S, Berquin, P, Richelme, C, Allaire, C, Gueden, S, Sylvie, NTT, Godet, B, Falco Rojas, MLR, Campistol Planas, J, Martinez Bermejo, A, Smeyers Dura, P, Roldan Aparicio, S, Martinez Gonzalez, MJ, Lopez Pison, J, Blanco Barca, MO, Lopez Laso, E, Alonso Luengo, O, Aguirre Rodriguez, FJ, Malaga Dieguez, I, Camacho Salas, A, Marti Carrera, I, Martinez Salcedo, E, Yoldi Petri, ME, Cancho Candela, R, Carrilho, IDC, Vieira, JP, da Silva Oliveira Monteiro, JP, de Oliveira Ferreira Leao, MJS, Marceano Ribeiro Luis, CS, Mendonca, CP, Endziniene, M, Strautmanis, J, Talvik, I, Canevini, MP, Gambardella, A, Pruna, D, Buono, S, Fontana, E, Dalla Bernardina, B, Burloiu, C, Cosma, ISB, Vintan, MA, Popescu, L, Zitterbart, K, Payerova, J, Bratsky, L, Zilinska, Z, Gruber-Sedlmayr, U, Baumann, M, Haberlandt, E, Rostasy, K, Pataraia, E, Elmslie, F, Johnston, CA, Crawford, P, Uldall, P, Dahlin, M, Uvebrant, P, Rask, O, Bjoernvold, M, Brodtkorb, E, Sloerdahl, A, Solhoff, R, Jaatun, MSG, Mandera, M, Radzikowska, EJ, Wysocki, M, Fischereder, M, Kurlemann, G, Wilken, B, Wiemer-Kruel, A, Budde, K, Marquard, K, Knuf, M, Hahn, A, Hartmann, H, Merkenschlager, A, Trollmann, R

المصدر: Frontiers in Neurology , 10 , Article 821. (2019)

مصطلحات موضوعية: mTOR, registry, SEGA, TOSCA, tuberous sclerosis complex

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10080432/1/fneur-10-00821.pdf; https://discovery.ucl.ac.uk/id/eprint/10080432/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10080432/1/fneur-10-00821.pdf
https://discovery.ucl.ac.uk/id/eprint/10080432/

المؤلفون: Patterson, M. C, Mengel, E, Vanier, M. T, Schwierin, B, Muller, A, Cornelisse, P, Pineda, M, Amado-Fondo, A, Amraoui, Y, Andria, G, Arellano, M, Audoin, B, Azcona, C, Barr, C, Baruteau, J, Baumgartner, C, Bell, L, Bembi, B, Benneddif, K, Bernard, G, Bobocea, N, Bodzioch, M, Boettcher, T, Bonnan, M, Broue, P, Bruni, A, Caceres, M, Camino, R, Campbell, E, Cances, C, Cannell, P, Cesar, J, Chabrol, B, Chakrapani, A, Colao, R, Collet, A, Corsetti, T, Cousins, A, Covanis, A, Cox, T, Cuisset, J. M, Dardis, A, Das, A, Deegan, P, Dengler, T, Deodato, F, Derralynn, H, Di Donato, I, Di Rocco, M, Dinopoulos, A, Pakiela, D, Eckehard, S, Engelen, M, Eyer, D, Fecarotta, S, Federico, A, Filla, A, Fiumara, A, Fonseca, M. J, Gabrielli, O, Garcia, T, Garrote, J, Gissen, P, Giugliani, L, Greenberg, C, Heron, B, Hertzberg, C, Higgins, F, Hill, A, Hiwot, T, Hlavata, A, Hörbe-Blindt A, Howley, E, Hussain, N, Illsinger, S, Imrie, J, Jacklin, E, Jones, S, Jovanovic, A, Kaczmarek, V, Kaphan, E, Kibaek, M, Kleinhans, P, Klünemann KH, Koch, S. M, Koegl-Wallner, W, Kolnikova, M, Korenke, G. C, Korinthenberg, R, Kumari, S, Lachmann, R, Lee Ann, L, Likopoulou, L, Lilienthal, E, Link, B, Lippold, M, Lopez-Laso, E, Luecke, T, Lundgren, J, Mackrell, M, Madruga, M, Maletta, R, Malinova, V, Manners, J, Marinei, R, Marquardt, T, Martins, E, Martins, A. M, Martins, N, McAlister, L, McCabe, A, McKie, M, McMahon, S, Meehan, M, Meldgaard Lund, A, Mendozah, C, Meyer, A, Mielke, S, Milligan, A, Mir, P, Moisa, M, Mombelli, C, Morris, L, Müller Vom Hagen, J, Munoz, B, Murphy, E, Nagarajan, L, Neto, P. B, Nevsimalova, S, Nia, S, Nicolai, J, Niemann, D, Niktari, G, O'Callaghan, M. D. M, Paucar-Arce, M, Peers, K, Peintinger, L, Peralta, M, Pérez, J, Perez-Poyato, M, Petrariu, A, Puschmann, A, Raiman, J, Rask, O, Rataj, J, Raymond-Gaynor, C, Reichelt, G, Ribeiro, E, Riches, V, Roberts, A, Roelants, J, Rohrbach, M, Rokicki, D, Rolfs, A, Russo, C, Rutsch, F, Saleem, R, Santos, M, Schmutz, P, Schwahn, B, Sedel, F, Semotok, J, Sharma, R, Silska, S, Silva, A, Simmons, L, Sivera, R, Skorpen, J, Sole, G, Souza, C, Stadlober-Degwerth, M, Starling, J, Temudo, T, Tomas, M, Tranchant, C, Uziel, G, Valayannopoulous, V, Van Den Hout, H, Van Der Tol, L, Van Spronsen, F, Vellodi, A, Verdu, A, Vilchez, J. J, Vinaixa, A, Visser, G, Voelker, J, Waldek, S, Walter, A, Walterfang, M, Wein, U, Widner, H, Wilcke, C, Wildish, L, Wraith, E, Wright, N, Xaidara, A, Yamamoto, M, Zallocco, F, Zielke, S

المساهمون: Patterson, M. C, Mengel, E, Vanier, M. T, Schwierin, B, Muller, A, Cornelisse, P, Pineda, M, Amado-Fondo, A, Amraoui, Y, Andria, G, Arellano, M, Audoin, B, Azcona, C, Barr, C, Baruteau, J, Baumgartner, C, Bell, L, Bembi, B, Benneddif, K, Bernard, G, Bobocea, N, Bodzioch, M, Boettcher, T, Bonnan, M, Broue, P, Bruni, A, Caceres, M, Camino, R, Campbell, E, Cances, C, Cannell, P, Cesar, J, Chabrol, B, Chakrapani, A, Colao, R, Collet, A, Corsetti, T, Cousins, A, Covanis, A, Cox, T, Cuisset, J. M, Dardis, A, Das, A, Deegan, P, Dengler, T, Deodato, F, Derralynn, H, Di Donato, I, Di Rocco, M, Dinopoulos, A, Pakiela, D, Eckehard, S, Engelen, M, Eyer, D, Fecarotta, S, Federico, A, Filla, A, Fiumara, A, Fonseca, M. J, Gabrielli, O, Garcia, T, Garrote, J, Gissen, P, Giugliani, L, Greenberg, C, Heron, B, Hertzberg, C, Higgins, F, Hill, A, Hiwot, T, Hlavata, A, Hörbe-Blindt, A, Howley, E, Hussain, N, Illsinger, S, Imrie, J, Jacklin, E, Jones, S, Jovanovic, A, Kaczmarek, V, Kaphan, E, Kibaek, M, Kleinhans, P, Klünemann, Kh, Koch, S. M, Koegl-Wallner, W, Kolnikova, M, Korenke, G. C, Korinthenberg, R, Kumari, S, Lachmann, R, Lee Ann, L, Likopoulou, L, Lilienthal, E, Link, B, Lippold, M, Lopez-Laso, E, Luecke, T, Lundgren, J, Mackrell, M

مصطلحات موضوعية: Niemann-Pick disease type C, Miglustat, Registry

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/26017010; info:eu-repo/semantics/altIdentifier/wos/WOS:000355918100001; volume:10; issue:1; firstpage:1; lastpage:9; numberofpages:9; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/11365/979373; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84931039342; http://www.ojrd.com/content/10/1/65

الاتاحة: http://hdl.handle.net/11365/979373
https://doi.org/10.1186/s13023-015-0284-z
http://www.ojrd.com/content/10/1/65

المؤلفون: Sánchez-Lijarcio O, Yubero-Siles D, Leal F, Couce ML, González Gutiérrez-Solana L, López-Laso E, Garcia-Cazorla A, Pias-Peleteiro LD, de Azua Brea B, Ibáñez-Micó S, Mateo-Martínez G, Troncoso-Schifferli M, Witting-Enriquez S, Ugarte M, Artuch-Iriberri R, Pérez-Dueñas B

المصدر: CLINICAL GENETICS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

مصطلحات موضوعية: GLUT1DS, SLC2A1, hypoglycorrhachia, GLUT1

URL الوصول: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::6e22da944f17137f9fd604b39dd4c69f
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=21389

المؤلفون: Alfonsi C, Stephan-Otto C, Cortès-Saladelafont E, Julià-Palacios NA, Podzamczer-Valls I, Cruz NG, Jiménez MRD, Micó SI, Vila MT, Jeltsch K, Hübschmann OK, Opladen T, Velázquez Fragua R, Gómez T, Alcoverro Fortuny O, García-Jimenez I, López-Laso E, Roche-Martínez A, Muchart-Lopez J, Garcia-Cazorla A

المصدر: Neuroradiology
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

مصطلحات موضوعية: Inherited neurotransmitter disorders, Monoamines, Amino acids, Brain volumetric study, Neuroimaging, Volumetric deficit

URL الوصول: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::e17f2d692f4c2c6b84fa5a6211324911
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=21688

المؤلفون: McEntagart, M., Williamson, K.A., Rainger, J.K., Wheeler, A., Seawright, A., De Baere, E., Verdin, H., Bergendahl, L. T., Quigley, A., Rainger, J., Dixit, A., Sarkar, A., Lopez Laso, E., Sanchez-Carpintero, R., Barrio, J., Bitoun, P., Prescott, T., Riise, R., McKee, S., Cook, J., McKie, L., Ceulemans, B., Meire, F., Temple, I.K., Prieur, F., Williams, J., Clouston, P., Nemeth, A.H., Banka, S., Bengani, H., Handley, M., Freyer, E., Ross, A., van Heyningen, V., Marsh, J.A., Elmslie, F., FitzPatrick, D.R.

وصف الملف: text

Relation: https://eprints.soton.ac.uk/392037/1/ITPR1%2520Gillespie%2520Syndrome%2520AJHG%2520Report%2520Final%2520V3.docx; https://eprints.soton.ac.uk/392037/2/1_s2.0_S0002929716300532_main.pdf; McEntagart, M., Williamson, K.A., Rainger, J.K., Wheeler, A., Seawright, A., De Baere, E., Verdin, H., Bergendahl, L. T., Quigley, A., Rainger, J., Dixit, A., Sarkar, A., Lopez Laso, E., Sanchez-Carpintero, R., Barrio, J., Bitoun, P., Prescott, T., Riise, R., McKee, S., Cook, J., McKie, L., Ceulemans, B., Meire, F., Temple, I.K., Prieur, F., Williams, J., Clouston, P., Nemeth, A.H., Banka, S., Bengani, H., Handley, M., Freyer, E., Ross, A., van Heyningen, V., Marsh, J.A., Elmslie, F. and FitzPatrick, D.R. (2016) A restricted repertoire of De Novo Mutations in ITPR1 cause Gillespie Syndrome with evidence for dominant negative effect. The American Journal of Human Genetics, 98 (5), 981-992. (doi:10.1016/j.ajhg.2016.03.018 ).

الاتاحة: https://eprints.soton.ac.uk/392037/
https://eprints.soton.ac.uk/392037/1/ITPR1%2520Gillespie%2520Syndrome%2520AJHG%2520Report%2520Final%2520V3.docx
https://eprints.soton.ac.uk/392037/2/1_s2.0_S0002929716300532_main.pdf

المؤلفون: Opladen, T, Cortès-Saladelafont, E, Mastrangelo, M, Horvath, G, Pons, R, Lopez-Laso, E, Fernández-Ramos, JA, Honzik, T, Pearson, T, Friedman, J, Scholl-Bürgi, S, Wassenberg, T, Jung-Klawitter, S, Kuseyri, O, Jeltsch, K, Kurian, MA, Garcia-Cazorla, À

المصدر: Molecular Genetics and Metabolism Reports , 9 pp. 61-66. (2016)

مصطلحات موضوعية: Neurotransmitter, Network, Database, Dopamine, Serotonin, Glycine, GABA, Serine, Guideline, Patient registry

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/1527478/1/1-s2.0-S221442691630088X-main.pdf; https://discovery.ucl.ac.uk/id/eprint/1527478/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/1527478/1/1-s2.0-S221442691630088X-main.pdf
https://discovery.ucl.ac.uk/id/eprint/1527478/

المؤلفون: McEntagart, M, Williamson, KA, Rainger, JK, Wheeler, A, Seawright, A, De Baere, E, Verdin, H, Bergendahl, LT, Quigley, A, Rainger, J, Dixit, A, Sarkar, A, López Laso, E, Sanchez-Carpintero, R, Barrio, J, Bitoun, P, Prescott, T, Riise, R, McKee, S, Cook, J, McKie, L, Ceulemans, B, Meire, F, Temple, IK, Prieur, F, Williams, J, Clouston, P, Németh, AH, Banka, S, Bengani, H, Handley, M, Freyer, E, Ross, A, DDD Study, ., van Heyningen, V, Marsh, JA, Elmslie, F, FitzPatrick, DR

المصدر: American Journal of Human Genetics , 98 (5) pp. 981-992. (2016)

مصطلحات موضوعية: ACTA2, ITPR1, aniridia, calcium, cerebellar ataxia, cerebellar hypoplasia, cerebellar vermis, inositol triphosphate, iris

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/1489801/1/Restricted%20repertoire%201-s2.0-S0002929716300532-main.pdf; https://discovery.ucl.ac.uk/id/eprint/1489801/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/1489801/1/Restricted%20repertoire%201-s2.0-S0002929716300532-main.pdf
https://discovery.ucl.ac.uk/id/eprint/1489801/

المؤلفون: Panagiotakaki, E., De Grandis, E., Stagnaro M., Heinzen, E. L., Fons, C., Sisodiya, S., de Vries, B., Goubau, C., Weckhuysen, S., Kemlink, D., Scheffer, I., Lesca, G., Rabilloud, M., Klich, A., Ramirez-Camacho, A., Ulate-Campos, A., Campistol, J., Giannotta, M., Moutard, M. L., Doummar, D., Hubsch-Bonneaud, C., Jaffer, F., Cross H., Gurrieri, F., Tiziano, D., Nevsimalova, S., Nicole, S., Neville, B., van den Maagdenberg A. M., Mikati, M., Goldstein, D. B., Vavassori, R., Arzimanoglou, A., Italian IBAHC Consortium, French AHC Consortium, International AHC Consortium. Collaborators: Bassi MT, Borgatti R, Cernetti R, Di Rosa G, Franchini F, Gambardella A, Giacanelli M, Giannotta M, Gobbi G, Granata T, De Grandis E, Guerrini R, Gurrieri F, Incorpora G, Nardocci N, Neri G, Ragona F, Santucci M, Sartori S, Stagnaro M, Tiziano D, Vavassori R, Veneselli E, Vigevano F, Zucca C, Aicardi J, An I, Arbues AS, Arzimanoglou A, Bahi- Buisson N, Barthez MA, Billette de Villemeur T, Bourgeois M, Bru M, Chabrol B, Chaigne D, Chaunu MP, Chiron C, Cournelle AM, Davoine CS, De St Martin A, Deny B, Desguerres I, Des Portes V, Doummar D, Dulac O, Dusser A, Gerard M, Gitiaux C, Godet Kiesel I, Gokben S, Goutieres F, Guerrin MH, Heron-Longe B, Hubsch-Bonneaud C, Hully M, Husson M, Ioos Ch, Kaminska A, Laroche C, Lazaro L, Lepine A, Magy L, Marchal C, Michel J, Milh M, Motte J, Moutard ML, Napuri S, Nassogne MC, Neau JP, Nicole S, Panagiotakaki E, Passemard S, Pedespan JM, Penniello- Valette MJ, Poncelin D, Ponsot G, Poulat AL, Pouplard F, Rabilloud M, Riant F, Rivier F, Roelens P, Roubergue A, Sanlaville D, Tardieu M, Veyrieres S, de Grandis E, Fons C, Sisodiya S, de Jonghe P, Goubeau C, van den Maagdenberg AM, Mikati M, Scheffer I, Nevsimalova S, Kemlink D, Krepelova A, Kolnikova M, Sykora P, Kaski J, Hanna M, Houlden H, Ulate-Campos A, Cancho R, Eiris J, López-Laso E, Velázquez R, Carilho I, Ozelius L, Suls A, Ceulemans B, Buyse G, di Michele M, Ferrari M, Peeters-Scholte CM.

المساهمون: Panagiotakaki, E., De Grandis, E., Stagnaro, M., Heinzen, E. L., Fons, C., Sisodiya, S., de Vries, B., Goubau, C., Weckhuysen, S., Kemlink, D., Scheffer, I., Lesca, G., Rabilloud, M., Klich, A., Ramirez-Camacho, A., Ulate-Campos, A., Campistol, J., Giannotta, M., Moutard, M. L., Doummar, D., Hubsch-Bonneaud, C., Jaffer, F., Cross, H., Gurrieri, F., Tiziano, D., Nevsimalova, S., Nicole, S., Neville, B., van den Maagdenberg, A. M., Mikati, M., Goldstein, D. B., Vavassori, R., Arzimanoglou, A., Italian IBAHC, Consortium, French AHC, Consortium, International AHC Consortium., Collaborators: Bassi MT, Borgatti, R, Cernetti, R, Di Rosa, G, Franchini, F, Gambardella, A, Giacanelli, M, Giannotta, M, Gobbi, G, Granata, T, De Grandis, E, Guerrini, R, Gurrieri, F, Incorpora, G, Nardocci, N, Neri, G, Ragona, F, Santucci, M, Sartori, S, Stagnaro, M, Tiziano, D, Vavassori, R, Veneselli, E, Vigevano, F, Zucca, C, Aicardi, J, An, I, Arbues, A, Arzimanoglou, A, Bahi- Buisson, N, Barthez, Ma, Billette de Villemeur, T, Bourgeois, M, Bru, M, Chabrol, B, Chaigne, D, Chaunu, Mp, Chiron, C, Cournelle, Am, Davoine, C, De St Martin, A, Deny, B, Desguerres, I, Des Portes, V, Doummar, D, Dulac, O, Dusser, A, Gerard, M, Gitiaux, C, Godet Kiesel, I, Gokben, S, Goutieres, F, Guerrin, Mh, Heron-Longe, B, Hubsch-Bonneaud, C, Hully, M, Husson, M, Ioos, Ch, Kaminska, A, Laroche, C, Lazaro, L, Lepine, A, Magy, L, Marchal, C, Michel, J

مصطلحات موضوعية: Alternating hemiplegia of childhood, ATP1A3, Genotype-phenotype

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/26410222; info:eu-repo/semantics/altIdentifier/wos/WOS:000361722500001; volume:10; issue:Article number 123; firstpage:1; lastpage:13; numberofpages:13; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/11570/3162131; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84942433711; https://ojrd.biomedcentral.com/articles/10.1186/s13023-015-0335-5

الاتاحة: http://hdl.handle.net/11570/3162131
https://doi.org/10.1186/s13023-015-0335-5
https://ojrd.biomedcentral.com/articles/10.1186/s13023-015-0335-5

المؤلفون: Marti-Sanchez L., Baide-Mairena H., Marce-Grau A., Pons R., Skouma A., Lopez-Laso E., Sigatullina M., Rizzo C., Semeraro M., Martinelli D., Carrozzo R., Dionisi-Vici C., Gonzalez-Gutierrez-Solana L., Correa-Vela M., Ortigoza-Escobar J. D., Sanchez-Montanez A., Vazquez E., Delgado I., Aguilera-Albesa S., Yoldi M. E., Ribes A., Tort F., Pollini L., Galosi S., Leuzzi V., Tolve M., Perez-Gay L., Aldamiz-Echevarria L., Del Toro M., Arranz A., Roelens F., Urreizti R., Artuch R., Macaya A., Perez-Duenas B.

المساهمون: Marti-Sanchez, L., Baide-Mairena, H., Marce-Grau, A., Pons, R., Skouma, A., Lopez-Laso, E., Sigatullina, M., Rizzo, C., Semeraro, M., Martinelli, D., Carrozzo, R., Dionisi-Vici, C., Gonzalez-Gutierrez-Solana, L., Correa-Vela, M., Ortigoza-Escobar, J. D., Sanchez-Montanez, A., Vazquez, E., Delgado, I., Aguilera-Albesa, S., Yoldi, M. E., Ribes, A., Tort, F., Pollini, L., Galosi, S., Leuzzi, V., Tolve, M., Perez-Gay, L., Aldamiz-Echevarria, L., Del Toro, M., Arranz, A., Roelens, F., Urreizti, R., Artuch, R., Macaya, A., Perez-Duenas, B.

مصطلحات موضوعية: basal ganglia cavitation, ECHS1, HIBCH, Leigh syndrome, methacrylate metabolite, paroxysmal dystonia, valine catabolism

Relation: info:eu-repo/semantics/altIdentifier/pmid/32677093; info:eu-repo/semantics/altIdentifier/wos/WOS:000563083900001; journal:JOURNAL OF INHERITED METABOLIC DISEASE; http://hdl.handle.net/11573/1471056; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85089444872

الاتاحة: http://hdl.handle.net/11573/1471056
https://doi.org/10.1002/jimd.12288

المؤلفون: Tristán-Noguero, A., Borràs, E., Molero-Luis, M., Wassenberg, T., Peters, T.M.A., Verbeek, M.M., Willemsen, M.A., Opladen, T., Jeltsch, K., Pons, R., Thony, B., Horvath, G., Yapici, Z., Friedman, J., Hyland, K., Agosta, G.E., López-Laso, E., Artuch, R., Sabidó, E., García-Cazorla, À.

المصدر: Movement Disorders, 36, 3, pp. 690-703

مصطلحات موضوعية: Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience

Relation: https://repository.ubn.ru.nl/handle/2066/235664

الاتاحة: https://repository.ubn.ru.nl/handle/2066/235664
https://doi.org/10.1002/mds.28362

المؤلفون: Hübschmann, O. Kuseyri, Horvath, G., Cortès-Saladelafont, E., Yildiz, Y., Mastrangelo, M., Pons, R., Friedman, J., Mercimek-Andrews, S., Wong, S.N., Pearson, T.S., Zafeiriou, D.I., Kulhánek, J., Kurian, Manju A., López-Laso, E., Oppebøen, M., Kılavuz, S., Wassenberg, T., Goez, H., Scholl-Bürgi, S., Porta, F., Honzík, T., Santer, R., Burlina, A., Sivri, H.S., Leuzzi, V., Hoffmann, G.F., Jeltsch, K., Hübschmann, D., Garbade, S.F., Verbeek, M.M., García-Cazorla, A., Opladen, T.

المصدر: Nature Communications, 12, 1

مصطلحات موضوعية: Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience

Relation: https://repository.ubn.ru.nl//bitstream/handle/2066/238541/238541.pdf; https://repository.ubn.ru.nl/handle/2066/238541

الاتاحة: https://repository.ubn.ru.nl//bitstream/handle/2066/238541/238541.pdf
https://repository.ubn.ru.nl/handle/2066/238541
https://doi.org/10.1038/s41467-021-25515-5

المؤلفون: Hübschmann OK, Mohr A, Friedman J, Manti F, Horvath G, Cortés-Saladelafont E, Mercimek-Andrews S, Yildiz Y, Pons R, Kulhánek J, Oppebøen M, Koht JA, Podzamczer-Valls I, Domingo-Jimenez R, Ibáñez S, Alcoverro-Fortuny O, Gómez-Alemany T, de Castro P, Alfonsi C, Zafeiriou DI, López-Laso E, Guder P, Santer R, Honzík T, Hoffmann GF, Garbade SF, Sivri HS, Leuzzi V, Jeltsch K, Garcia-Cazorla A, Opladen T, Harting I, International Working Group on Neurotransmitter Related Disorders

المساهمون: [Kuseyri Hübschmann O] Department of Child Neurology and Metabolic Disorders, University Children's Hospital, Heidelberg, Germany. [Mohr A] Department of Neuroradiology, University Hospital Heidelberg, Heidelberg, Germany. [Friedman J] UCSD Departments of Neuroscience and Pediatrics, Rady Children's Hospital Division of Neurology, Rady Children's Institute for Genomic Medicine, San Diego, California. [Manti F] Unit of Child Neurology and Psychiatry, Department of Human Neuroscience, Sapienza, University of Rome, Rome, Italy. [Horvath G] University of British Columbia, Department of Pediatrics, Division of Biochemical Genetics, BC Children's Hospital, Vancouver, British Columbia, Canada. [Cortès-Saladelafont E] Inborn Errors of Metabolism Unit, Department of Neurology, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, Barcelona, Spain. Unit of Pediatric Neurology and Metabolic Disorders, Department of Pediatrics, Hospital Germans Trias i Pujol and Faculty of Medicine,Universitat Autònoma de Barcelona, Barcelona, Spain. [Alcoverro-Fortuny O, Gómez-Alemany T] Hospital General de Granollers, Granollers, Spain, Hospital General de Granollers

المصدر: JOURNAL OF INHERITED METABOLIC DISEASE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Journal of Inherited Metabolic Disease
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
Scientia

مصطلحات موضوعية: Male, Pathology, Movement disorders, Neurotransmissors, diagnóstico::técnicas y procedimientos diagnósticos::diagnóstico::técnicas y procedimientos diagnósticos::técnicas diagnósticas neurológicas::neuroimágenes [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS], monoamines, Child, Genetics (clinical), 0303 health sciences, Brain Mapping, 030305 genetics & heredity, Inherited neurotransmitter disorders, monoamines, MRI, tetrahydrobiopterin deficiency, inherited neurotransmitter disorders, Brain, watershed injury, Middle Aged, Magnetic Resonance Imaging, medicine.anatomical_structure, Child, Preschool, Female, medicine.symptom, Adult, medicine.medical_specialty, Adolescent, Encephalopathy, Diagnosis::Diagnostic Techniques and Procedures::Diagnosis::Diagnostic Techniques and Procedures::Diagnostic Techniques, Neurological::Neuroimaging [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT], Grey matter, 03 medical and health sciences, Young Adult, Atrophy, enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::alteraciones congénitas del metabolismo::alteraciones congénitas del metabolismo de los aminoácidos::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::alteraciones congénitas del metabolismo::fenilcetonurias [ENFERMEDADES], Neuroimaging, Genetics, medicine, Humans, Tetrahydrobiopterin deficiency, Amino Acid Metabolism, Inborn Errors, Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Brain Diseases, Metabolic [DISEASES], 030304 developmental biology, Retrospective Studies, enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades cerebrales::enfermedades cerebrales metabólicas [ENFERMEDADES], Inherited neurotransmitter disorders, Sistema nerviós - Malalties, Tyrosine hydroxylase, business.industry, Ressonància magnètica, Infant, medicine.disease, Monoamine neurotransmitter, Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Metabolism, Inborn Errors::Amino Acid Metabolism, Inborn Errors::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Metabolism, Inborn Errors::Phenylketonurias [DISEASES], business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b877cab74f11584455ed19abfed64f8
https://pubmed.ncbi.nlm.nih.gov/33443316