المؤلفون: Brkušanin, Miloš, Milić-Rašić, V., Branković, V., Stević, Z., Nikolić, D., Kosać, A., Jovanović, K., Karanović, Jelena, Pešović, Jovan, Brajušković, Goran, Savić-Pavićević, Dušanka

Relation: CoMBoS2 – the Second Congress of Molecular Biologists of Serbia; https://biore.bio.bg.ac.rs/handle/123456789/6404

الاتاحة: https://biore.bio.bg.ac.rs/handle/123456789/6404

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: Nuovo S., Micalizzi A., Romaniello R., Arrigoni F., Ginevrino M., Casella A., Serpieri V., D'Arrigo S., Briguglio M., Salerno G. G., Rossato S., Sartori S., Leuzzi V., Battini R., Ben-Zeev B., Graziano C., Mirabelli Badenier M., Brankovic V., Nardocci N., Spiegel R., Petkovic RamadAa D., Vento G., Marti I., Simonati A., Dipresa S., Freri E., Mazza T., Bassi M. T., Bosco L., Travaglini L., Zanni G., Bertini E. S., Vanacore N., Borgatti R., Valente E. M.

المساهمون: Nuovo, S., Micalizzi, A., Romaniello, R., Arrigoni, F., Ginevrino, M., Casella, A., Serpieri, V., D'Arrigo, S., Briguglio, M., Salerno, G. G., Rossato, S., Sartori, S., Leuzzi, V., Battini, R., Ben-Zeev, B., Graziano, C., Mirabelli Badenier, M., Brankovic, V., Nardocci, N., Spiegel, R., Petkovic RamadAa, D., Vento, G., Marti, I., Simonati, A., Dipresa, S., Freri, E., Mazza, T., Bassi, M. T., Bosco, L., Travaglini, L., Zanni, G., Bertini, E. S., Vanacore, N., Borgatti, R., Valente, E. M.

مصطلحات موضوعية: and neonatal diseases and abnormalitie, cerebellar disease, congenital, genetic, genotype, hereditary, medical, phenotype

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/34085948; info:eu-repo/semantics/altIdentifier/wos/WOS:000728642300001; volume:59; issue:4; firstpage:399; lastpage:409; numberofpages:11; journal:JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/11577/3441337; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85102197986

الاتاحة: http://hdl.handle.net/11577/3441337
https://doi.org/10.1136/jmedgenet-2020-107497

المؤلفون: Mercuri E., Deconinck N., Mazzone E. S., Nascimento A., Oskoui M., Saito K., Vuillerot C., Baranello G., Boespflug-Tanguy O., Goemans N., Kirschner J., Kostera-Pruszczyk A., Servais L., Gerber M., Gorni K., Khwaja O., Kletzl H., Scalco R. S., Staunton H., Yeung W. Y., Martin C., Fontoura P., Day J. W., Volpe J. J., Posner J., Kellner U., Quinlivan R., Fuerst-Recktenwald S., Marquet A., Mulhardt N., Trundell D., Daron A., Delstanche S., Romain B., Dal Farra F., Schneider O., Balikova I., Delbeke P., Joniau I., Tahon V., Wittevrongel S., De Vos E., Casteels I., De Waele L., Cassiman C., Prove L., Kinoo D., Vancampenhout L., Van Den Hauwe M., Van Impe A., Prufer de Queiroz Campos Araujo A., Chacon Pereira A., Nardes F., Haefeli L., Rossetto J., Almeida Pereira J., Ferreira Rebel M., Campbell C., Sharan S., McDonald W., Scholtes C., Mah J., Sframeli M., Chiu A., Hagel J., Beneish R., Pham C., Toffoli D., Arpin S., Turgeon Desilets S., Wang Y., Hu C., Huang J., Qian C., Shen L., Xiao Y., Zhou Z., Li H., Wang S., Xiong H., Chang X., Dong H., Liu Y., Sang T., Wei C., Wen J., Cao Y., Lv X., Zhao J., Li W., Qin L., Barisic N., Galiot Delic M., Ivkic P. K., Vukojevic N., Kern I., Najdanovic B., Skugor M., Gidaro T., Seferian A., De Lucia S., Barreau E., Mnafek N., Momtchilova M. M., Peche H., Valherie C., Grange A., Lilien C., Milascevic D., Tachibana S., Ravelli C., Cardas R., Vanden Brande L., Davion J. -B., Coopman S., Bouacha I., Debruyne P., Defoort S., Derlyn G., Leroy F., Danjoux L., Guilbaud J., Desguerre I., Barnerias C., Semeraro M., Bremond-Gignac D., Bruere L., Rateaux M., Deladriere E., Germa V., Pereon Y., Magot A., Mercie S., Billaud F., Le Goff L., Letellier G., Portefaix A., Fontaine S., De-Montferrand C., Le-Goff L., Saidi M., Bouzid N., Barriere A., Tinat M., Dreesbach M., Lagreze W., Michaelis B., Molnar F., Seger D., Vogt S., Bertini E., D'Amico A., Petroni S., Bonetti A. M., Carlesi A., Mizzoni I., Bruno C., Priolo E., Rao G., Morando S., Tacchetti P., Zuffi A., Comi G. P., Brusa R., Corti S., Daniele V., Govoni A., Magri F., Minorini V., Osnaghi S. G., Abbati F., Fassini F., Foa M., Lopopolo A., Meneri M., Zoppas F., Parente V., Masson R., Bianchi Marzoli S., Santarsiero D., Garcia Sierra M., Tremolada G., Arnoldi M. T., Vigano M., Zanin R., Amorelli G. M., Barresi C., D'Amico G., Orazi L., Coratti G., Haginoya K., Kato A., Morishita Y., Kira R., Akiyama K., Goto M., Mori Y., Okamoto M., Tsutsui S., Takatsuji Y., Tanaka A., Komaki H., Suzuki I., Takeuchi M., Todoroki D., Watanabe S., Omori M., Matsubayashi T., Inakazu E., Nagura H., Suzuki A., Osaka H., Ohashi M., Ishikawa N., Harada Y., Fudeyasu K., Hirata K., Michiue K., Ueda K., Yashiro S., Seki M., Sano N., Uemura A., Fukuyama K., Matsumoto Y., Miyazaki H., Shibata M., Kobayashi K., Nakamura Y., Takeshima Y., Kuma M., Fraczek A., Jedrzejowska M., Lusakowska A., Czeszyk-Piotrowicz A., Hautz W., Rakusiewicz K., Burlewicz M., Gierlak-Wojcicka Z., Kepa M., Sikorski A., Sobieraj M., Mazurkiewicz-Beldzinska M., Lemska A., Modrzejewska S., Koberda M., Stodolska-Koberda U., Waskowska A., Kolendo J., Sobierajska-Rek A., Steinborn B., Dalz M., Grabowska J., Hajduk W., Janasiewicz-Karachitos J., Klimas M., Stopa M., Gajewska E., Pusz B., Vlodavets D., Melnik E., Leppenen N., Yupatova N., Monakhova A., Papina Y., Shidlovsckaia O., Milic Rasic V., Brankovic V., Kosac A., Djokic O., Jaksic V., Pepic A., Martinovic J., Munell Casadesus F., Tizzano E., Martin Begue N., Wolley Dod C., Subira O., Planas Pascual B., Toro Tamargo E., Madruga Garrido M., Medina Romero J. D., Salinas M. P., Nascimento Osorio A., Diaz Cortes A., Jimenez Ganan E., Suh S. D., Medina Cantillo J., Moya O., Padros N., Roca Urraca S., Gonzalez Valdivia H., Pascual Pascual S., de Manuel S., Noval Martin S., Burnham P., Espinosa Garcia S., Martinez Moreno M., Topaloglu H., Oncel I., Eroglu Ertugrul N., Konuskan B., Eldem B., Kadayifcilar S., Alemdaroglu I., Ayse Karaduman A., Tunca Yilmaz O., Bilgin N., Sari S., Chiriboga C., Kane S., Lee J., Rome-Martin D., Beres S., Duong T., Gee R., Dunaway Young S.

المساهمون: Mercuri, E., Deconinck, N., Mazzone, E. S., Nascimento, A., Oskoui, M., Saito, K., Vuillerot, C., Baranello, G., Boespflug-Tanguy, O., Goemans, N., Kirschner, J., Kostera-Pruszczyk, A., Servais, L., Gerber, M., Gorni, K., Khwaja, O., Kletzl, H., Scalco, R. S., Staunton, H., Yeung, W. Y., Martin, C., Fontoura, P., Day, J. W., Volpe, J. J., Posner, J., Kellner, U., Quinlivan, R., Fuerst-Recktenwald, S., Marquet, A., Mulhardt, N., Trundell, D., Daron, A., Delstanche, S., Romain, B., Dal Farra, F., Schneider, O., Balikova, I., Delbeke, P., Joniau, I., Tahon, V., Wittevrongel, S., De Vos, E., Casteels, I., De Waele, L., Cassiman, C., Prove, L., Kinoo, D., Vancampenhout, L., Van Den Hauwe, M., Van Impe, A., Prufer de Queiroz Campos Araujo, A., Chacon Pereira, A., Nardes, F., Haefeli, L., Rossetto, J., Almeida Pereira, J., Ferreira Rebel, M., Campbell, C., Sharan, S., Mcdonald, W., Scholtes, C., Mah, J., Sframeli, M., Chiu, A., Hagel, J., Beneish, R., Pham, C., Toffoli, D., Arpin, S., Turgeon Desilets, S., Wang, Y., Hu, C., Huang, J., Qian, C., Shen, L., Xiao, Y., Zhou, Z., Li, H., Wang, S., Xiong, H., Chang, X., Dong, H., Liu, Y., Sang, T., Wei, C., Wen, J., Cao, Y., Lv, X., Zhao, J., Li, W., Qin, L., Barisic, N., Galiot Delic, M., Ivkic, P. K., Vukojevic, N., Kern, I., Najdanovic, B., Skugor, M., Gidaro, T., Seferian, A.

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000734663200021; volume:21; firstpage:42; lastpage:52; numberofpages:11; journal:LANCET NEUROLOGY; https://hdl.handle.net/11567/1144815; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85121472126

الاتاحة: https://hdl.handle.net/11567/1144815
https://doi.org/10.1016/S1474-4422(21)00367-7

المؤلفون: Djordjevic, S., Milic-Rasic, V., Brankovic, V., Kosac, A., Dejanovic-Djordjevic, I., Bijelic, M., Dimkic-Tomic, T., Markovic-Denic, Lj., Kovacevic, S., Petrovic, H., Vitorovic, S., Dobric, Z., Zdravkovic, V.

المصدر: Archives de Pédiatrie ; volume 29, issue 7, page 480-483 ; ISSN 0929-693X

الاتاحة: http://dx.doi.org/10.1016/j.arcped.2022.08.015
https://api.elsevier.com/content/article/PII:S0929693X22001853?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0929693X22001853?httpAccept=text/plain

المؤلفون: Mercuri, Eugenio Maria, Deconinck, N., Mazzone, Elena Stacy, Nascimento, A., Oskoui, M., Saito, K., Vuillerot, C., Baranello, Giovanni, Boespflug-Tanguy, O., Goemans, N., Kirschner, J., Kostera-Pruszczyk, A., Servais, L., Gerber, M., Gorni, K., Khwaja, O., Kletzl, H., Scalco, R. S., Staunton, H., Yeung, W. Y., Martin, Craig, Fontoura, P., Day, J. W., Volpe, J. J., Posner, J., Kellner, U., Quinlivan, R., Fuerst-Recktenwald, S., Marquet, A., Mulhardt, N., Trundell, D., Daron, A., Delstanche, S., Romain, B., Dal Farra, F., Schneider, O., Balikova, I., Delbeke, P., Joniau, I., Tahon, V., Wittevrongel, S., De Vos, E., Casteels, I., De Waele, L., Cassiman, C., Prove, L., Kinoo, D., Vancampenhout, L., Van Den Hauwe, M., Van Impe, A., Prufer de Queiroz Campos Araujo, A., Chacon Pereira, A., Nardes, F., Haefeli, L., Rossetto, J., Almeida Pereira, J., Ferreira Rebel, M., Campbell, C., Sharan, S., Mcdonald, W., Scholtes, C., Mah, J., Sframeli, M., Chiu, A., Hagel, J., Beneish, R., Pham, C., Toffoli, D., Arpin, S., Turgeon Desilets, S., Wang, Y., Hu, C., Huang, J., Qian, C., Shen, L., Xiao, Y., Zhou, Z., Li, H., Wang, S., Xiong, H., Chang, X., Dong, H., Liu, Y., Sang, T., Wei, C., Wen, J., Cao, Y., Lv, X., Zhao, J., Li, W., Qin, L., Barisic, N., Galiot Delic, M., Ivkic, P. K., Vukojevic, N., Kern, I., Najdanovic, B., Skugor, M., Gidaro, T., Seferian, A., De Lucia, Sara Sofia, Barreau, E., Mnafek, N., Momtchilova, M. M., Peche, H., Valherie, C., Grange, A., Lilien, C., Milascevic, D., Tachibana, S., Ravelli, C., Cardas, R., Vanden Brande, L., Davion, J. -B., Coopman, S., Bouacha, I., Debruyne, P., Defoort, S., Derlyn, G., Leroy, F., Danjoux, L., Guilbaud, J., Desguerre, I., Barnerias, C., Semeraro, M., Bremond-Gignac, D., Bruere, L., Rateaux, M., Deladriere, E., Germa, V., Pereon, Y., Magot, A., Mercie, S., Billaud, F., Le Goff, L., Letellier, G., Portefaix, A., Fontaine, S., De-Montferrand, C., Le-Goff, L., Saidi, M., Bouzid, N., Barriere, A., Tinat, M., Dreesbach, M., Lagreze, W., Michaelis, B., Molnar, F., Seger, D., Vogt, S., Bertini, Enrico Silvio, D'Amico, Adele, Petroni, S., Bonetti, A. M., Carlesi, A., Mizzoni, I., Bruno, C., Priolo, E., Rao, G., Morando, S., Tacchetti, P., Zuffi, A., Comi, G. P., Brusa, R., Corti, Serafino, Daniele, V., Govoni, A., Magri, F., Minorini, V., Osnaghi, S. G., Abbati, F., Fassini, F., Foa, M., Lopopolo, A., Meneri, M., Zoppas, F., Parente, V., Masson, R., Bianchi Marzoli, Stefania, Santarsiero, Rocco Domenico, Garcia Sierra, M., Tremolada, G., Arnoldi, M. T., Vigano, M., Zanin, Renata, Amorelli, Giulia Maria, Barresi, C., D'Amico, Guglielmo, Orazi, Lorenzo, Coratti, Giorgia, Haginoya, K., Kato, A., Morishita, Y., Kira, R., Akiyama, K., Goto, M., Mori, Y., Okamoto, M., Tsutsui, S., Takatsuji, Y., Tanaka, A., Komaki, H., Suzuki, I., Takeuchi, M., Todoroki, D., Watanabe, S., Omori, M., Matsubayashi, T., Inakazu, E., Nagura, H., Suzuki, A., Osaka, H., Ohashi, M., Ishikawa, N., Harada, Y., Fudeyasu, K., Hirata, K., Michiue, K., Ueda, K., Yashiro, S., Seki, M., Sano, N., Uemura, A., Fukuyama, K., Matsumoto, Y., Miyazaki, H., Shibata, M., Kobayashi, K., Nakamura, Y., Takeshima, Y., Kuma, M., Fraczek, A., Jedrzejowska, M., Lusakowska, A., Czeszyk-Piotrowicz, A., Hautz, W., Rakusiewicz, K., Burlewicz, M., Gierlak-Wojcicka, Z., Kepa, M., Sikorski, A., Sobieraj, M., Mazurkiewicz-Beldzinska, M., Lemska, A., Modrzejewska, S., Koberda, M., Stodolska-Koberda, U., Waskowska, A., Kolendo, J., Sobierajska-Rek, A., Steinborn, B., Dalz, M., Grabowska, J., Hajduk, W., Janasiewicz-Karachitos, J., Klimas, M., Stopa, M., Gajewska, E., Pusz, B., Vlodavets, D., Melnik, E., Leppenen, N., Yupatova, N., Monakhova, A., Papina, Y., Shidlovsckaia, O., Milic Rasic, V., Brankovic, V., Kosac, A., Djokic, O., Jaksic, V., Pepic, A., Martinovic, J., Munell Casadesus, F., Tizzano, E., Martin Begue, N., Wolley Dod, C., Subira, O., Planas Pascual, B., Toro Tamargo, E., Madruga Garrido, M., Medina Romero, J. D., Salinas, M. P., Nascimento Osorio, A., Diaz Cortes, A., Jimenez Ganan, E., Suh, S. D., Medina Cantillo, J., Moya, O., Padros, N., Roca Urraca, S., Gonzalez Valdivia, H., Pascual Pascual, S., de Manuel, S., Noval Martin, S., Burnham, P., Espinosa Garcia, S., Martinez Moreno, M., Topaloglu, H., Oncel, I., Eroglu Ertugrul, N., Konuskan, B., Eldem, B., Kadayifcilar, S., Alemdaroglu, I., Ayse Karaduman, A., Tunca Yilmaz, O., Bilgin, N., Sari, S., Chiriboga, C., Kane, S., Lee, J., Rome-Martin, D., Beres, S., Duong, T., Gee, R., Dunaway Young, S., Mercuri E. (ORCID:0000-0002-9851-5365), Mazzone E. S., Baranello G., Martin C., De Lucia S., Bertini E., D'Amico A., Corti S., Bianchi Marzoli S., Santarsiero D., Zanin R., Amorelli G. M., D'Amico G., Orazi L., Coratti G. (ORCID:0000-0001-6666-5628)

مصطلحات الفهرس: Adolescent, Adult, Aged, Azo Compounds, Child, Child, Preschool, Double-Blind Method, Humans, Young Adult, Pyrimidines, Spinal Muscular Atrophies of Childhood, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, info:eu-repo/semantics/article

URL: http://hdl.handle.net/10807/197788
info:eu-repo/semantics/altIdentifier/pmid/34942136
info:eu-repo/semantics/altIdentifier/wos/WOS:000734663200021
volume:21
issue:1
firstpage:42
lastpage:52
numberofpages:11
issueyear:2022
journal:LANCET NEUROLOGY

المؤلفون: Nicita F., Ginevrino M., Travaglini L., D'Arrigo S., Zorzi G., Borgatti R., Terrone G., Catteruccia M., Vasco G., Brankovic V., Siliquini S., Romano S., Veredice C., Pedemonte M., Armando M., Lettori D., Stregapede F., Bosco L., Sferra A., Tessarollo V., Romaniello R., Ristori G., Bertini E., Valente E. M., Zanni G.

المساهمون: Nicita, F., Ginevrino, M., Travaglini, L., D'Arrigo, S., Zorzi, G., Borgatti, R., Terrone, G., Catteruccia, M., Vasco, G., Brankovic, V., Siliquini, S., Romano, S., Veredice, C., Pedemonte, M., Armando, M., Lettori, D., Stregapede, F., Bosco, L., Sferra, A., Tessarollo, V., Romaniello, R., Ristori, G., Bertini, E., Valente, E. M., Zanni, G.

مصطلحات موضوعية: Central nervous system disease, cerebellar disease, genetic heterogeneity, neurodegenerative disease, neurology

Relation: info:eu-repo/semantics/altIdentifier/pmid/32737135; info:eu-repo/semantics/altIdentifier/wos/WOS:000680409100005; journal:JOURNAL OF MEDICAL GENETICS; https://hdl.handle.net/11573/1473001; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85093677649

الاتاحة: https://hdl.handle.net/11573/1473001
https://doi.org/10.1136/jmedgenet-2020-107007

المؤلفون: Nuovo S., Brankovic V., Caputi C., Casella A., Nigro V., Leuzzi V., Valente E. M.

المساهمون: Nuovo, S., Brankovic, V., Caputi, C., Casella, A., Nigro, V., Leuzzi, V., Valente, E. M.

مصطلحات موضوعية: allelic spectrum, BAR domain, oligophrenin, OPHN1, proline-rich domain

Relation: info:eu-repo/semantics/altIdentifier/pmid/33638601; info:eu-repo/semantics/altIdentifier/wos/WOS:000622338600001; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; http://hdl.handle.net/11573/1518137; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85101753000

الاتاحة: http://hdl.handle.net/11573/1518137
https://doi.org/10.1002/ajmg.a.62144

المؤلفون: Imbrici P., Conte E., Blunck R., Stregapede F., Liantonio A., Tosi M., D'adamo M. C., De Luca A., Brankovic V., Zanni G.

المساهمون: Imbrici, P., Conte, E., Blunck, R., Stregapede, F., Liantonio, A., Tosi, M., D'Adamo, M. C., De Luca, A., Brankovic, V., Zanni, G.

مصطلحات موضوعية: 4-aminopyridine (4-AP), Ataxia, Epilepsy, KCNA2, Molecular dynamic, Patch clamp, 4-Aminopyridine, Amino Acid Sequence, Brain, Cerebellar Ataxia, Child, Preschool, Human, Infant, Kv1.2 Potassium Channel, Magnetic Resonance Imaging, Male, Molecular Dynamics Simulation, Young Adult

Relation: info:eu-repo/semantics/altIdentifier/pmid/34576077; volume:22; issue:18; firstpage:9913; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; http://hdl.handle.net/11586/378669; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85114775937

الاتاحة: http://hdl.handle.net/11586/378669
https://doi.org/10.3390/ijms22189913

المؤلفون: Bar C., Kuchenbuch M., Barcia G., Schneider A., Jennesson M., Le Guyader G., Lesca G., Mignot C., Montomoli M., Parrini E., Isnard H., Rolland A., Keren B., Afenjar A., Dorison N., Sadleir L. G., Breuillard D., Levy R., Rio M., Dupont S., Negrin S., Danieli A., Scalais E., De Saint Martin A., El Chehadeh S., Chelly J., Poisson A., Lebre A. -S., Nica A., Odent S., Sekhara T., Brankovic V., Goldenberg A., Vrielynck P., Lederer D., Maurey H., Terrone G., Besmond C., Hubert L., Berquin P., Billette de Villemeur T., Isidor B., Freeman J. L., Mefford H. C., Myers C. T., Howell K. B., Rodriguez-Sacristan Cascajo A., Meyer P., Genevieve D., Guet A., Doummar D., Durigneux J., van Dooren M. F., de Wit M. C. Y., Gerard M., Marey I., Munnich A., Guerrini R., Scheffer I. E., Kabashi E., Nabbout R.

المساهمون: Bar, C., Kuchenbuch, M., Barcia, G., Schneider, A., Jennesson, M., Le Guyader, G., Lesca, G., Mignot, C., Montomoli, M., Parrini, E., Isnard, H., Rolland, A., Keren, B., Afenjar, A., Dorison, N., Sadleir, L. G., Breuillard, D., Levy, R., Rio, M., Dupont, S., Negrin, S., Danieli, A., Scalais, E., De Saint Martin, A., El Chehadeh, S., Chelly, J., Poisson, A., Lebre, A. -S., Nica, A., Odent, S., Sekhara, T., Brankovic, V., Goldenberg, A., Vrielynck, P., Lederer, D., Maurey, H., Terrone, G., Besmond, C., Hubert, L., Berquin, P., Billette de Villemeur, T., Isidor, B., Freeman, J. L., Mefford, H. C., Myers, C. T., Howell, K. B., Rodriguez-Sacristan Cascajo, A., Meyer, P., Genevieve, D., Guet, A., Doummar, D., Durigneux, J., van Dooren, M. F., de Wit, M. C. Y., Gerard, M., Marey, I., Munnich, A., Guerrini, R., Scheffer, I. E., Kabashi, E., Nabbout, R.

مصطلحات موضوعية: autism spectrum disorder, developmental and epileptic encephalopathy, developmental encephalopathy, drug-resistant epilepsy, potassium channel, sudden unexpected death in epilepsy

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000571117100001; volume:61; issue:11; firstpage:2461; lastpage:2473; numberofpages:13; journal:EPILEPSIA; https://hdl.handle.net/11588/967984; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85091178149

الاتاحة: https://hdl.handle.net/11588/967984
https://doi.org/10.1111/epi.16679

المؤلفون: Bar, C, Kuchenbuch, M, Barcia, G, Schneider, A, Jennesson, M, Le Guyader, G, Lesca, G, Mignot, C, Montomoli, M, Parrini, E, Isnard, H, Rolland, A, Keren, B, Afenjar, A, Dorison, N, Sadleir, LG, Breuillard, D, Levy, R, Rio, M, Dupont, S, Negrin, S, Danieli, A, Scalais, E, De Saint Martin, A, El Chehadeh, S, Chelly, J, Poisson, A, Lebre, A-S, Nica, A, Odent, S, Sekhara, T, Brankovic, V, Goldenberg, A, Vrielynck, P, Lederer, D, Maurey, H, Terrone, G, Besmond, C, Hubert, L, Berquin, P, Billette de Villemeur, T, Isidor, B, Freeman, JL, Mefford, HC, Myers, CT, Howell, KB, Rodriguez-Sacristan Cascajo, A, Meyer, P, Genevieve, D, Guet, A, Doummar, D, Durigneux, J, van Dooren, MF, de Wit, MCY, Gerard, M, Marey, I, Munnich, A, Guerrini, R, Scheffer, IE, Kabashi, E, Nabbout, R

Relation: Bar, C., Kuchenbuch, M., Barcia, G., Schneider, A., Jennesson, M., Le Guyader, G., Lesca, G., Mignot, C., Montomoli, M., Parrini, E., Isnard, H., Rolland, A., Keren, B., Afenjar, A., Dorison, N., Sadleir, L. G., Breuillard, D., Levy, R., Rio, M. ,. Nabbout, R. (2020). Developmental and epilepsy spectrum ofKCNB1encephalopathy with long-term outcome. EPILEPSIA, 61 (11), pp.2461-2473. https://doi.org/10.1111/epi.16679.; http://hdl.handle.net/11343/276328

الاتاحة: http://hdl.handle.net/11343/276328

المؤلفون: Lawerman, T. F., Brandsma, R., Lunsing, R. J., Burgerhof, J. G. M., Sival, D. A., Barisic, N., Baxter, P., Bertini, E., Blumkin, L., Brankovic, V., Calabro, G. E., Catsman Berrevoets, C. E., Craiu, D., Dan, B., Dica, A., Franciskovic, T., Gburek Augustat, J., Grunt, S., Hartley, H., Kammoun, F., Kennedy, C., Kuiper, M. J., Lehman, I., Lustenberger, A., Mancini, F., Mirabelli Badenier, M., Mulder den Hartog, E., Steinlin, M., Synofzik, M., Triki, C. C., Vasco, G., Zekavica, A., VALENTE, ENZA MARIA

المساهمون: Lawerman, T. F., Brandsma, R., Lunsing, R. J., Burgerhof, J. G. M., Sival, D. A., Barisic, N., Baxter, P., Bertini, E., Blumkin, L., Brankovic, V., Calabro, G. E., Catsman Berrevoets, C. E., Craiu, D., Dan, B., Dica, A., Franciskovic, T., Gburek Augustat, J., Grunt, S., Hartley, H., Kammoun, F., Kennedy, C., Kuiper, M. J., Lehman, I., Lustenberger, A., Mancini, F., Mirabelli Badenier, M., Mulder den Hartog, E., Steinlin, M., Synofzik, M., Triki, C. C., Valente, ENZA MARIA, Vasco, G., Zekavica, A.

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000382559801470; ispartofbook:MOVEMENT DISORDERS; 20th International Congress of Parkinson's Disease and Movement Disorders; volume:31; firstpage:S347; lastpage:S347; numberofpages:1; journal:MOVEMENT DISORDERS; http://hdl.handle.net/11571/1180510

الاتاحة: http://hdl.handle.net/11571/1180510

المؤلفون: Lawerman, T. F., Brandsma, R., Barisic, N., Baxter, P., Bertini, E., Brankovic, V., Burgerhof, J. G. M., Calabro, G. E., Catsman Berrevoets, C. E., Craiu, D., de Coo, I. F. M., Dan, B., Gburek Augustat, J., Kamoun, F. F., Kennedy, C., Lunsing, R. J., Mancini, F., Mirabelli Badenier, M., Steinlin, M., Synofzik, M., Triki, C. C., Vasco, G., Sival, D. A., VALENTE, ENZA MARIA

المساهمون: Lawerman, T. F., Brandsma, R., Barisic, N., Baxter, P., Bertini, E., Brankovic, V., Burgerhof, J. G. M., Calabro, G. E., Catsman Berrevoets, C. E., Craiu, D., de Coo, I. F. M., Dan, B., Gburek Augustat, J., Kamoun, F. F., Kennedy, C., Lunsing, R. J., Mancini, F., Mirabelli Badenier, M., Steinlin, M., Synofzik, M., Triki, C. C., Valente, ENZA MARIA, Vasco, G., Sival, D. A.

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000356598201271; ispartofbook:MOVEMENT DISORDERS; 19th International Congress of Parkinson's Disease and Movement Disorders; volume:30; firstpage:S360; lastpage:S360; journal:MOVEMENT DISORDERS; http://hdl.handle.net/11571/1180676

الاتاحة: http://hdl.handle.net/11571/1180676

المؤلفون: Brankovic, V., Nuovo, S., Zekavica, A., Micalizzi, A., Poretti, A., Valente, E.M.

المصدر: European Journal of Paediatric Neurology ; volume 21, page e53 ; ISSN 1090-3798

الاتاحة: http://dx.doi.org/10.1016/j.ejpn.2017.04.900
https://api.elsevier.com/content/article/PII:S1090379817311595?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1090379817311595?httpAccept=text/plain

المؤلفون: Milić Rašić, V., Branković, V., Mladenović, J., Nikodinović, J., Kosac, A., Baets, J., De Jonghe, P., Jordanova, A., Zimon, M., Keckarević-Marković, Milica, Savić-Pavićević, Dušanka, Todorović, S.

Relation: 11th EPNS Congress; https://biore.bio.bg.ac.rs/handle/123456789/7033

الاتاحة: https://biore.bio.bg.ac.rs/handle/123456789/7033

المؤلفون: Barresi, S., Niceta, M., Alfieri, P., Brankovic, V., Piccini, G., Bruselles, A., Barone, M.R., Cusmai, R., Tartaglia, M., Bertini, E., Zanni, G.

المساهمون: Fondazione Telethon

المصدر: Clinical Genetics ; volume 91, issue 1, page 86-91 ; ISSN 0009-9163 1399-0004

الاتاحة: http://dx.doi.org/10.1111/cge.12783
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fcge.12783
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.12783

المؤلفون: Ulusoy, A. C., Krone, S., Liu, G., Trasser, A., Guderian, F., Almeroth, B., Barghouthi, A., Hellfeld, M., Schumann, S., Carta, C., Estan, C., Dombrowski, K., Brankovic, V., Radovic, D., Ellinger, F., Fettweis, G., Schumacher, H.

المصدر: 2013 IEEE 13th Topical Meeting on Silicon Monolithic Integrated Circuits in RF Systems ; page 99-101

الاتاحة: http://dx.doi.org/10.1109/sirf.2013.6489445
http://xplorestaging.ieee.org/ielx7/6478872/6489399/06489445.pdf?arnumber=6489445

المؤلفون: Brankovic, V., Zekavica, A., Popara, J., Rasic, V. Milic

المصدر: European Journal of Paediatric Neurology ; volume 19, page S81-S82 ; ISSN 1090-3798

الاتاحة: http://dx.doi.org/10.1016/s1090-3798(15)30271-3
https://api.elsevier.com/content/article/PII:S1090379815302713?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1090379815302713?httpAccept=text/plain

المؤلفون: Rasic, V. Milic, Brankovic, V., Mladenovic, J., Nikodinovic, J., Kosac, A., Baets, J., De Jonghe, P., Jordanova, A., Zimon, M., Markovic, M. Keckarevic, Savic, D. Pavicevic, Todorovic, S.

المصدر: European Journal of Paediatric Neurology ; volume 19, page S67 ; ISSN 1090-3798

الاتاحة: http://dx.doi.org/10.1016/s1090-3798(15)30221-x
https://api.elsevier.com/content/article/PII:S109037981530221X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S109037981530221X?httpAccept=text/plain