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

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

URL الوصول: https://doaj.org/article/4ab43b2bf2b24d74920d801660180f3b

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

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

URL الوصول: https://doaj.org/article/374250be323442f09a6b4ebeec84b24f

المؤلفون: Garofalo M., De Simone G., Motta Z., Nuzzo T., De Grandis E., Bruno C., Boeri S., Riccio M. P., Pastore L., Bravaccio C., Iasevoli F., Salvatore F., Pollegioni L., Errico F., de Bartolomeis A., Usiello A.

المساهمون: Garofalo, M., De Simone, G., Motta, Z., Nuzzo, T., De Grandis, E., Bruno, C., Boeri, S., Riccio, M. P., Pastore, L., Bravaccio, C., Iasevoli, F., Salvatore, F., Pollegioni, L., Errico, F., de Bartolomeis, A., Usiello, A.

مصطلحات موضوعية: antipsychotic, autism spectrum disorder, D-aspartate, D-serine, schizophrenia, treatment-resistant

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:001274868700001; volume:15; journal:FRONTIERS IN PSYCHIATRY; https://hdl.handle.net/11588/979843

الاتاحة: https://hdl.handle.net/11588/979843
https://doi.org/10.3389/fpsyt.2024.1408175

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

الاتاحة: http://urn.fi/urn:nbn:fi-fe2023060552515

المؤلفون: Cordani R., Stagnaro M., Pisciotta L., Tiziano F. D., Calevo M. G., Nobili L., De Grandis E., Bassi M. T., Claudio Z., Edvige V., Michela S., Filippo F., Vavassori M. R., Melania G., Giuseppe G., Tiziana G., Nardo N., Francesca R., Emanuela A., Agnese N., Fiorella G., Giovanni N., Federico V., Alessandro C., Stefano S.

المساهمون: Cordani, R., Stagnaro, M., Pisciotta, L., Tiziano, F. D., Calevo, M. G., Nobili, L., De Grandis, E., Bassi, M. T., Claudio, Z., Edvige, V., Michela, S., Filippo, F., Vavassori, M. R., Melania, G., Giuseppe, G., Tiziana, G., Nardo, N., Francesca, R., Emanuela, A., Agnese, N., Fiorella, G., Giovanni, N., Federico, V., Alessandro, C., Stefano, S.

مصطلحات موضوعية: alternating hemiplegia of childhood, ATP1A3, epilepsy, flunarizine, genotype, movement disorder, phenotype

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/33897609; info:eu-repo/semantics/altIdentifier/wos/WOS:000642089600001; volume:12; firstpage:1; lastpage:8; numberofpages:8; journal:FRONTIERS IN NEUROLOGY; https://hdl.handle.net/11567/1076308

الاتاحة: https://hdl.handle.net/11567/1076308
https://doi.org/10.3389/fneur.2021.658451

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

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

المؤلفون: De Grandis , E S

المصدر: Revista Methodo: Investigación Aplicada a las Ciencias Biológicas; Vol. 5 Núm. 2 (2020): Abril-Junio ; 2545-8302

وصف الملف: application/pdf

Relation: https://revistas.bibdigital.uccor.edu.ar/index.php/method/article/view/5135/3612; https://revistas.bibdigital.uccor.edu.ar/index.php/method/article/view/5135

الاتاحة: https://revistas.bibdigital.uccor.edu.ar/index.php/method/article/view/5135

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

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

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

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

Relation: 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/11567/1145836; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85170838019

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

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

Relation: 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/11567/1128896; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85152361929

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

المؤلفون: Balestrini, S., Mikati, M.A., Álvarez-García-Rovés, R., Carboni, M., Hunanyan, A.S., 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., Samões, R., Brankovic, V., Padiath, Q.S., Potic, A., Pilch, J., Vezyroglou, A., Bye, AME, Davis, A.M., Ryan, M.M., Semsarian, C., Hollingsworth, G., Scheffer, I.E., 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, D.S., Pitt, G.S., Tinker, A., Ashworth, M., Michalak, Z., Thom, M., Cross, J.H., Vavassori, R., Kaski, J.P., Sisodiya, S.M.

المصدر: Neurology, vol. 95, no. 21, pp. e2866-e2879

مصطلحات موضوعية: Adolescent, Adult, Cerebellar Ataxia/genetics, Cerebellar Ataxia/metabolism, Cerebellar Ataxia/therapy, Child, Preschool, Cohort Studies, Female, Foot Deformities, Congenital/genetics, Congenital/metabolism, Congenital/therapy, Hearing Loss, Sensorineural/genetics, Sensorineural/metabolism, Sensorineural/therapy, Hemiplegia/diagnosis, Hemiplegia/genetics, Hemiplegia/therapy, Humans, Infant, Male, Middle Aged, Mutation/genetics, Optic Atrophy/genetics, Optic Atrophy/metabolism, Optic Atrophy/therapy, Phenotype, Reflex

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/32913013; info:eu-repo/semantics/altIdentifier/eissn/1526-632X; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_C9EB42E436AF2; https://serval.unil.ch/notice/serval:BIB_C9EB42E436AF; https://serval.unil.ch/resource/serval:BIB_C9EB42E436AF.P001/REF.pdf

الاتاحة: https://serval.unil.ch/notice/serval:BIB_C9EB42E436AF
https://doi.org/10.1212/WNL.0000000000010794
https://serval.unil.ch/resource/serval:BIB_C9EB42E436AF.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_C9EB42E436AF2

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

Relation: https://discovery.ucl.ac.uk/id/eprint/10110385/1/e2866.full.pdf; https://discovery.ucl.ac.uk/id/eprint/10110385/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10110385/1/e2866.full.pdf
https://discovery.ucl.ac.uk/id/eprint/10110385/

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: 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

Relation: 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/11567/981628; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85054734998

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

المؤلفون: Cordani R., Pisciotta L., Mancardi M. M., Stagnaro M., Prato G., Giacomini T., Morana G., Walsh P., Ghia T., Nobili L., De Grandis E.

المساهمون: Cordani R., Pisciotta L., Mancardi M.M., Stagnaro M., Prato G., Giacomini T., Morana G., Walsh P., Ghia T., Nobili L., De Grandis E.

مصطلحات موضوعية: Alternating Hemiplegia of Childhood, epilepsy, movement disorder, TBC1D24 gene

Relation: info:eu-repo/semantics/altIdentifier/pmid/34852372; info:eu-repo/semantics/altIdentifier/wos/WOS:000724483400001; volume:53; issue:1; firstpage:69; lastpage:74; numberofpages:6; journal:NEUROPEDIATRICS; http://hdl.handle.net/2318/1852038; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85121104610

الاتاحة: http://hdl.handle.net/2318/1852038
https://doi.org/10.1055/s-0041-1739132

المؤلفون: Orsini A., Foiadelli T., Magistrali M., Carli N., Bagnasco I., Dassi P., Verrotti A., Marcotulli D., Canavese C., Nicita F., Capuano A., Marra C., Fetta A., Nosadini M., Sartori S., Papa A., Viri M., Greco F., Pavone P., Simonini G., Matricardi S., Siquilini S., Marchese F., De Grandis E., Brunenghi B. M., Malattia C., Bassanese F., Bergonzini P., Bonuccelli A., Consolini R., Marseglia G. L., Peroni D., Striano P., Cordelli D., Savasta S.

المساهمون: Orsini, A., Foiadelli, T., Magistrali, M., Carli, N., Bagnasco, I., Dassi, P., Verrotti, A., Marcotulli, D., Canavese, C., Nicita, F., Capuano, A., Marra, C., Fetta, A., Nosadini, M., Sartori, S., Papa, A., Viri, M., Greco, F., Pavone, P., Simonini, G., Matricardi, S., Siquilini, S., Marchese, F., De Grandis, E., Brunenghi, B. M., Malattia, C., Bassanese, F., Bergonzini, P., Bonuccelli, A., Consolini, R., Marseglia, G. L., Peroni, D., Striano, P., Cordelli, D., Savasta, S.

مصطلحات موضوعية: Immunotherapy, Intravenous immunoglobulins, Italy, Neuropsychiatric symptoms, Streptococcus, Adolescent, Child, Humans, Prognosis, Retrospective Studies, Chorea, Mental Disorders, Rheumatic Fever

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/34768201; info:eu-repo/semantics/altIdentifier/wos/WOS:000811339200002; volume:36; firstpage:1; lastpage:6; numberofpages:6; journal:EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY; http://hdl.handle.net/11391/1523048; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85118895479

الاتاحة: http://hdl.handle.net/11391/1523048
https://doi.org/10.1016/j.ejpn.2021.11.002

المؤلفون: Uccella S, Schifano C, Siri L, Prato G, Canale E, Mancardi M, Nobili L, De Grandis E

المساهمون: Uccella, S, Schifano, C, Siri, L, Prato, G, Canale, E, Mancardi, M, Nobili, L, De Grandis, E

وصف الملف: ELETTRONICO

Relation: volume:41; firstpage:162; lastpage:169; numberofpages:8; journal:GIORNALE DI NEUROPSICHIATRIA DELL'ETÀ EVOLUTIVA; https://hdl.handle.net/11567/1143801

الاتاحة: https://hdl.handle.net/11567/1143801

المؤلفون: Ghosh, SG, Becker, K, Huang, H, Dixon-Salazar, T, Chai, G, Salpietro, V, Al-Gazali, L, Waisfisz, Q, Wang, H, Vaux, KK, Stanley, V, Manole, A, Akpulat, U, Weiss, MM, Efthymiou, S, Hanna, MG, Minetti, C, Striano, P, Pisciotta, L, De Grandis, E, Altmueller, J, Nuernberg, P, Thiele, H, Yis, U, Okur, TD, Polat, AI, Amiri, N, Doosti, M, Karimani, EG, Toosi, MB, Haddad, G, Karakaya, M, Wirth, B, van Hagen, JM, Wolf, NI, Maroofian, R, Houlden, H, Cirak, S, Gleeson, JG

المصدر: American Journal of Human Genetics , 103 (5) pp. 431-439. (2018)

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

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10062251/5/Ghosh_Manuscript%20for%20Submission%20ver%208-SC%20and%20SG%20edits-22-05-2018.pdf; https://discovery.ucl.ac.uk/id/eprint/10062251/10/Ghosh_Supplemental%20Text%20v7.pdf; https://discovery.ucl.ac.uk/id/eprint/10062251/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10062251/5/Ghosh_Manuscript%20for%20Submission%20ver%208-SC%20and%20SG%20edits-22-05-2018.pdf
https://discovery.ucl.ac.uk/id/eprint/10062251/10/Ghosh_Supplemental%20Text%20v7.pdf
https://discovery.ucl.ac.uk/id/eprint/10062251/

المؤلفون: Orsini, A., Foiadelli, T., Magistrali, M., Carli, N., Bagnasco, I., Dassi, P., Verrotti, A., Marcotulli, D., Canavese, C., Nicita, F., Capuano, A., Marra, C., Fetta, A., Nosadini, M., Sartori, S., Papa, A., Viri, M., Greco, F., Pavone, P., Simonini, G., Matricardi, S., Siquilini, S., Marchese, F., De Grandis, E., Brunenghi, B. M., Malattia, C., Bassanese, F., Bergonzini, P., Bonuccelli, A., Consolini, R., Marseglia, G. L., Peroni, D., Striano, P., Cordelli, D., Savasta, S.

مصطلحات موضوعية: Adolescent, Mental Disorders, Streptococcus, Intravenous immunoglobulins, Prognosis, Immunotherapy, Italy, Neuropsychiatric symptoms, Child, Humans, Retrospective Studies, Chorea, Rheumatic Fever

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::8b8d7b1e3e3ee2d647653008d75d1c60
https://hdl.handle.net/11567/1078892

المؤلفون: Giacomini T., Nuovo S., Zanni G., Mancardi M. M., Cusmai R., Pepi C., Bertini E., Valente E. M., Battini R., Ferrari A., Romaniello R., Zucca C., Borgatti R., Uccella S., Severino M., Striano P., Pistorio A., Prato G., De Grandis E., Nobili L., Pisciotta L.

المساهمون: Giacomini, T., Nuovo, S., Zanni, G., Mancardi, M. M., Cusmai, R., Pepi, C., Bertini, E., Valente, E. M., Battini, R., Ferrari, A., Romaniello, R., Zucca, C., Borgatti, R., Uccella, S., Severino, M., Striano, P., Pistorio, A., Prato, G., De Grandis, E., Nobili, L., Pisciotta, L.

مصطلحات موضوعية: CASK pathogenic Variant, Developmental delay, Epilepsy, Late-onset spasm, Spindles abnormalities

Relation: info:eu-repo/semantics/altIdentifier/pmid/33640666; info:eu-repo/semantics/altIdentifier/wos/WOS:000635058900010; volume:31; firstpage:61; lastpage:69; numberofpages:9; journal:EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY; http://hdl.handle.net/11573/1518125; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85101534274

الاتاحة: http://hdl.handle.net/11573/1518125
https://doi.org/10.1016/j.ejpn.2021.02.006