المؤلفون: Gonzalvez M L, De Grandis E S

المصدر: Revista Methodo, Vol 7, Iss 1 (2022)

مصطلحات موضوعية: obesidad, sobrepeso, padres, pediatras, Science, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://methodo.ucc.edu.ar/index.php/methodo/article/view/293Test; https://doaj.org/toc/2545-8302Test

الوصول الحر: https://doaj.org/article/4ab43b2bf2b24d74920d801660180f3bTest

المؤلفون: Pérez-Dueñas, B. (Belén), Gorman, K. (Kathleen), Marcé-Grau, A. (Anna), Ortigoza-Escobar, J. D. (Juan D.), Macaya, A. (Alfons), Danti, F. R. (Federica R.), Barwick, K. (Katy), Papandreou, A. (Apostolos), Ng, J. (Joanne), Meyer, E. (Esther), Mohammad, S. S. (Shekeeb S.), Smith, M. (Martin), Muntoni, F. (Francesco), Munot, P. (Pinki), Uusimaa, J. (Johanna), Vieira, P. (Päivi), Sheridan, E. (Eammon), Guerrini, R. (Renzo), Cobben, J. (Jan), Yilmaz, S. (Sanem), De Grandis, E. (Elisa), Dale, R. C. (Russell C.), Pons, R. (Roser), Peall, K. J. (Kathryn J.), Leuzzi, V. (Vincenzo), Kurian, M. A. (Manju A.)

مصطلحات موضوعية: chorea, dystonia, hyperkinetic movement disorders, infantile parkinsonism, myoclonus

وصف الملف: application/pdf

الإتاحة: http://urn.fi/urn:nbn:fi-fe2023060552515Test

المؤلفون: Uchitel, J, Wallace, K, Tran, L, Abrahamsen, T, Hunanyan, A, Prange, L, Jasien, J, Caligiuri, L, Pratt, M, Rikard, B, Fons, C, De Grandis, E, Vezyroglou, A, Heinzen, EL, Goldstein, DB, Vavassori, R, Papadopoulou, MT, Cocco, I, Moré, R, Duke AHC Research Group, ., French AHC Consortium, ., Arzimanoglou, A, Panagiotakaki, E, Mikati, MA

المصدر: Brain Communications , 3 (3) , Article fcab128. (2021)

مصطلحات موضوعية: ATP1A3, alternating hemiplegia of childhood, disability, Mashlool D801N mouse, progression

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10135838/1/Vezyroglou_Alternating%20hemiplegia%20of%20childhood-%20evolution%20over%20time%20and%20mouse%20model%20corroboration_VoR.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10135838Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10135838/1/Vezyroglou_Alternating%20hemiplegia%20of%20childhood-%20evolution%20over%20time%20and%20mouse%20model%20corroboration_VoR.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10135838Test/

المؤلفون: Bellini T., Siri L., De Grandis E., Formigoni C., Tortora D., Piccotti E.

المساهمون: Bellini, T., Siri, L., De Grandis, E., Formigoni, C., Tortora, D., Piccotti, E.

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37666275; info:eu-repo/semantics/altIdentifier/wos/WOS:001061743400001; volume:54; firstpage:1; lastpage:2; numberofpages:2; journal:NEUROPEDIATRICS; https://hdl.handle.net/11567/1145836Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85170838019

الإتاحة: https://doi.org/10.1055/s-0043-1772462Test
https://hdl.handle.net/11567/1145836Test

المؤلفون: Uccella S., Parodi A., Calevo M. G., Nobili L., Tortora D., Severino M., Andreato C., Preiti D., Traggiai C., Massirio P., Zoia A., Govaert P., Minghetti D., Tacchino C., Brigati G., Moretti P., De Grandis E., Siri L., Caruggi S., Marcella B., Malova M., Rossi A., Ramenghi L. A.

المساهمون: Uccella, S., Parodi, A., Calevo, M. G., Nobili, L., Tortora, D., Severino, M., Andreato, C., Preiti, D., Traggiai, C., Massirio, P., Zoia, A., Govaert, P., Minghetti, D., Tacchino, C., Brigati, G., Moretti, P., De Grandis, E., Siri, L., Caruggi, S., Marcella, B., Malova, M., Rossi, A., Ramenghi, L. A.

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36998157; info:eu-repo/semantics/altIdentifier/wos/WOS:000961561800001; firstpage:1; lastpage:13; numberofpages:13; journal:DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY; https://hdl.handle.net/11567/1128896Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85152361929

الإتاحة: https://doi.org/10.1111/dmcn.15559Test
https://hdl.handle.net/11567/1128896Test

المؤلفون: Avdeev, S., Bidoli, V., Bonvicini, W., Boezio, M., Carlson, P., Casolino, M., Castellini, G., De Grandis, E., De Pascale, M. P., Fuglesang, C., Furano, G., Galper, A., Khodarovich, A., Korotkov, M., Mazzenga, G., Morselli, A., Narici, L., Papini, P., Picozza, P., Popov, A., Reali, E., Ricci, M., Sparvoli, R., Spillantini, P., Vacchi, A., Vavilov, N., Zampa, N.

مصطلحات موضوعية: Astrophysics

الوصول الحر: http://arxiv.org/abs/astro-ph/0107128Test

المؤلفون: De Grandis E S

المصدر: Revista Methodo, Vol 5, Iss 2 (2020)

مصطلحات موضوعية: Science, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: http://methodo.ucc.edu.ar/index.php/methodo/article/view/178Test; https://doaj.org/toc/2545-8302Test

الوصول الحر: https://doaj.org/article/374250be323442f09a6b4ebeec84b24fTest

المؤلفون: Balestrini, S, Mikati, MA, Garcia-Roves, RA, Carboni, M, Hunanyan, AS, Kherallah, B, McLean, M, Prange, L, De Grandis, E, Gagliardi, A, Pisciotta, L, Stagnaro, M, Veneselli, E, Campistol, J, Fons, C, Pias-Peleteiro, L, Brashear, A, Miller, C, Samoes, R, Brankovic, V, Padiath, QS, Potic, A, Pilch, J, Vezyroglou, K, Bye, AME, Davis, AM, Ryan, MM, Semsarian, C, Hollingsworth, G, Scheffer, IE, Granata, T, Nardocci, N, Ragona, F, Arzimanoglou, A, Panagiotakaki, E, Carrilho, I, Zucca, C, Novy, J, Dzieżyc, K, Parowicz, M, Mazurkiewicz-Bełdzińska, M, Weckhuysen, S, Pons, R, Groppa, S, Sinden, DS, Pitt, GS, Tinker, A, Ashworth, M, Michalak, Z, Thom, M, Cross, JH, Vavassori, R, Kaski, JP, Sisodiya, SM

المصدر: Neurology , 95 (21) e2866-e2879. (2020)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10110385/1/e2866.full.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10110385Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10110385/1/e2866.full.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10110385Test/

المؤلفون: Ghosh S. G., Becker K., Huang H., Dixon-Salazar T., Chai G., Salpietro V., Al-Gazali L., Waisfisz Q., Wang H., Vaux K. K., Stanley V., Manole A., Akpulat U., Weiss M. M., Efthymiou S., Hanna M. G., Minetti C., Striano P., Pisciotta L., De Grandis E., Altmuller J., Nurnberg P., Thiele H., Yis U., Okur T. D., Polat A. I., Amiri N., Doosti M., Karimani E. G., Toosi M. B., Haddad G., Karakaya M., Wirth B., van Hagen J. M., Wolf N. I., Maroofian R., Houlden H., Cirak S., Gleeson J. G.

المساهمون: Ghosh, S. G., Becker, K., Huang, H., Dixon-Salazar, T., Chai, G., Salpietro, V., Al-Gazali, L., Waisfisz, Q., Wang, H., Vaux, K. K., Stanley, V., Manole, A., Akpulat, U., Weiss, M. M., Efthymiou, S., Hanna, M. G., Minetti, C., Striano, P., Pisciotta, L., De Grandis, E., Altmuller, J., Nurnberg, P., Thiele, H., Yis, U., Okur, T. D., Polat, A. I., Amiri, N., Doosti, M., Karimani, E. G., Toosi, M. B., Haddad, G., Karakaya, M., Wirth, B., van Hagen, J. M., Wolf, N. I., Maroofian, R., Houlden, H., Cirak, S., Gleeson, J. G.

مصطلحات موضوعية: ADP-ribosylation, ADPRHL2, ARH3, ataxia, epilepsy, neurodegeneration, neuropathy, oxidative stre, poly-ADP ribose, SUDEP

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30100084; info:eu-repo/semantics/altIdentifier/wos/WOS:000443819500012; volume:103; firstpage:431; lastpage:439; numberofpages:9; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11567/981628Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85054734998

الإتاحة: https://doi.org/10.1016/j.ajhg.2018.07.010Test
http://hdl.handle.net/11567/981628Test

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

العلاقة: 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/11570/3162131Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84942433711; https://ojrd.biomedcentral.com/articles/10.1186/s13023-015-0335-5Test

الإتاحة: https://doi.org/10.1186/s13023-015-0335-5Test
http://hdl.handle.net/11570/3162131Test