المؤلفون: Gozzelino L., Kochlamazashvili G., Baldassari S., Mackintosh A. I., Licchetta L., Iovino E., Liu Y. -C., Bennett C. A., Bennett M. F., Damiano J. A., Zsurka G., Marconi C., Giangregorio T., Magini P., Kuijpers M., Maritzen T., Norata G. D., Baulac S., Canafoglia L., Seri M., Tinuper P., Scheffer I. E., Bahlo M., Berkovic S. F., Hildebrand M. S., Kunz W. S., Giordano L., Bisulli F., Martini M., Haucke V., Hirsch E., Pippucci T.

المساهمون: Gozzelino L., Kochlamazashvili G., Baldassari S., Mackintosh A.I., Licchetta L., Iovino E., Liu Y.-C., Bennett C.A., Bennett M.F., Damiano J.A., Zsurka G., Marconi C., Giangregorio T., Magini P., Kuijpers M., Maritzen T., Norata G.D., Baulac S., Canafoglia L., Seri M., Tinuper P., Scheffer I.E., Bahlo M., Berkovic S.F., Hildebrand M.S., Kunz W.S., Giordano L., Bisulli F., Martini M., Haucke V., Hirsch E., Pippucci T.

مصطلحات موضوعية: class II PI3K, epilepsy, mTOR, PI3K-C2B, variant, Animal, Human, Lipid, Mechanistic Target of Rapamycin Complex 1, Mice, Mutation, Phosphatidylinositol 3-Kinase, Seizure, Class II Phosphatidylinositol 3-Kinase, Epilepsies, Partial

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35786744; info:eu-repo/semantics/altIdentifier/wos/WOS:000820595000001; volume:145; issue:7; firstpage:2313; lastpage:2331; numberofpages:19; journal:BRAIN; https://hdl.handle.net/11585/901431Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85135419711; https://academic.oup.com/brain/article/145/7/2313/6628565?login=trueTest

الإتاحة: https://doi.org/10.1093/brain/awac082Test
https://hdl.handle.net/11585/901431Test
https://academic.oup.com/brain/article/145/7/2313/6628565?login=trueTest

المؤلفون: Gozzelino, L, Kochlamazashvili, G, Baldassari, S, Mackintosh, AI, Licchetta, L, Iovino, E, Liu, YC, Bennett, CA, Bennett, MF, Damiano, JA, Zsurka, G, Marconi, C, Giangregorio, T, Magini, P, Kuijpers, M, Maritzen, T, Norata, GD, Baulac, S, Canafoglia, L, Seri, M, Tinuper, P, Scheffer, IE, Bahlo, M, Berkovic, SF, Hildebrand, MS, Kunz, WS, Giordano, L, Bisulli, F, Martini, M, Haucke, V, Hirsch, E, Pippucci, T

العلاقة: pii: 6628565; Gozzelino, L., Kochlamazashvili, G., Baldassari, S., Mackintosh, A. I., Licchetta, L., Iovino, E., Liu, Y. C., Bennett, C. A., Bennett, M. F., Damiano, J. A., Zsurka, G., Marconi, C., Giangregorio, T., Magini, P., Kuijpers, M., Maritzen, T., Norata, G. D., Baulac, S., Canafoglia, L. ,. Pippucci, T. (2022). Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy. BRAIN, 145 (7), pp.2313-2331. https://doi.org/10.1093/brain/awac082Test.; http://hdl.handle.net/11343/316389Test

الإتاحة: https://doi.org/10.1093/brain/awac082Test
http://hdl.handle.net/11343/316389Test

المؤلفون: Lee, WS, Baldassari, S, Stephenson, SEM, Lockhart, PJ, Baulac, S, Leventer, RJ

العلاقة: pii: ijms23031344; Lee, W. S., Baldassari, S., Stephenson, S. E. M., Lockhart, P. J., Baulac, S. & Leventer, R. J. (2022). Cortical Dysplasia and the mTOR Pathway: How the Study of Human Brain Tissue Has Led to Insights into Epileptogenesis. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 23 (3), https://doi.org/10.3390/ijms23031344Test.; http://hdl.handle.net/11343/302667Test

الإتاحة: https://doi.org/10.3390/ijms23031344Test
http://hdl.handle.net/11343/302667Test

المؤلفون: Borgia, P, Baldassari, S, Pedemonte, N, Alkhunaizi, E, D'Onofrio, G, Tortora, D, Calì, E, Scudieri, P, Balagura, G, Musante, I, Diana, MC, Pedemonte, M, Vari, MS, Iacomino, M, Riva, A, Chimenz, R, Mangano, GD, Mohammadi, MH, Toosi, MB, Ashrafzadeh, F, Imannezhad, S, Karimiani, EG, Accogli, A, Schiaffino, MC, Maghnie, M, Soler, MA, Echiverri, K, Abrams, CK, Striano, P, Fortuna, S, Maroofian, R, Houlden, H, Zara, F, Fiorillo, C, Salpietro, V

وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/114991/1/s13023-022-02415-5.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/114991/9/13023_2022_2415_MOESM1_ESM.docxTest; Borgia, P; Baldassari, S; Pedemonte, N; Alkhunaizi, E; D'Onofrio, G; Tortora, D; Calì, E; Scudieri, P; Balagura, G; Musante, I; et al. Borgia, P; Baldassari, S; Pedemonte, N; Alkhunaizi, E; D'Onofrio, G; Tortora, D; Calì, E; Scudieri, P; Balagura, G; Musante, I; Diana, MC; Pedemonte, M; Vari, MS; Iacomino, M; Riva, A; Chimenz, R; Mangano, GD; Mohammadi, MH; Toosi, MB; Ashrafzadeh, F; Imannezhad, S; Karimiani, EG; Accogli, A; Schiaffino, MC; Maghnie, M; Soler, MA; Echiverri, K; Abrams, CK; Striano, P; Fortuna, S; Maroofian, R; Houlden, H; Zara, F; Fiorillo, C; Salpietro, V (2022) Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders. Orphanet J Rare Dis, 17 (1). p. 286. ISSN 1750-1172 https://doi.org/10.1186/s13023-022-02415-5Test SGUL Authors: Maroofian, Reza

الإتاحة: https://doi.org/10.1186/s13023-022-02415-5Test
https://openaccess.sgul.ac.uk/id/eprint/114991Test/
https://openaccess.sgul.ac.uk/id/eprint/114991/1/s13023-022-02415-5.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/114991/9/13023_2022_2415_MOESM1_ESM.docxTest

المؤلفون: Baldassari S., Cirrincione P., Ailuno G., Drava G., Arpicco S., Caviglioli G.

المساهمون: Baldassari S., Cirrincione P., Ailuno G., Drava G., Arpicco S., Caviglioli G.

مصطلحات موضوعية: Cross-linked polyacrylic polymer, Glass transition, Matrix tablet, Shrinking, Solid dosage form, Thermal treatment

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34661093; info:eu-repo/semantics/altIdentifier/wos/WOS:000729173300030; volume:3; firstpage:100098; lastpage:100108; numberofpages:11; journal:INTERNATIONAL JOURNAL OF PHARMACEUTICS. X; http://hdl.handle.net/2318/1831386Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85121468880

الإتاحة: https://doi.org/10.1016/j.ijpx.2021.100098Test
http://hdl.handle.net/2318/1831386Test

المؤلفون: Blumcke I., Coras R., Busch R. M., Morita-Sherman M., Lal D., Prayson R., Cendes F., Lopes-Cendes I., Rogerio F., Almeida V. S., Rocha C. S., Sim N. S., Lee J. H., Kim S. H., Baulac S., Baldassari S., Adle-Biassette H., Walsh C. A., Bizzotto S., Doan R. N., Morillo K. S., Aronica E., Muhlebner A., Becker A., Cienfuegos J., Garbelli R., Giannini C., Honavar M., Jacques T. S., Thom M., Mahadevan A., Miyata H., Niehusmann P., Sarnat H. B., Soylemezoglu F., Najm I.

المساهمون: Blumcke I., Coras R., Busch R.M., Morita-Sherman M., Lal D., Prayson R., Cendes F., Lopes-Cendes I., Rogerio F., Almeida V.S., Rocha C.S., Sim N.S., Lee J.H., Kim S.H., Baulac S., Baldassari S., Adle-Biassette H., Walsh C.A., Bizzotto S., Doan R.N., Morillo K.S., Aronica E., Muhlebner A., Becker A., Cienfuegos J., Garbelli R., Giannini C., Honavar M., Jacques T.S., Thom M., Mahadevan A., Miyata H., Niehusmann P., Sarnat H.B., Soylemezoglu F., Najm I.

مصطلحات موضوعية: brain, classification, epilepsy, gene, neuropathology, seizure, Adolescent, Adult, Age of Onset, Antibody Diversity, Child, Preschool, Delphi Technique, Female, Genotype, Human, Immunohistochemistry, Infant, Magnetic Resonance Imaging, Male, Malformations of Cortical Development, Middle Aged, Mutation, Neurosurgical Procedure, Observer Variation, Phenotype, Young Adult

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33949696; info:eu-repo/semantics/altIdentifier/wos/WOS:000647020600001; volume:62; issue:6; firstpage:1416; lastpage:1428; numberofpages:13; journal:EPILEPSIA; https://hdl.handle.net/11585/862462Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85105053041

الإتاحة: https://doi.org/10.1111/epi.16899Test
https://hdl.handle.net/11585/862462Test

المؤلفون: Balboni A., Ailuno G., Baldassari S., Repellin M., Catania G., Caviglioli G., Lollo G.

المساهمون: Balboni, A., Ailuno, G., Baldassari, S., Repellin, M., Catania, G., Caviglioli, G., Lollo, G.

وصف الملف: ELETTRONICO

العلاقة: ispartofbook:Proceedings of CRS Italy Local Chapter Workshop 2023; CRS Italy Local Chapter Workshop 2023; firstpage:1; lastpage:2; numberofpages:2; https://hdl.handle.net/11567/1172596Test

الإتاحة: https://hdl.handle.net/11567/1172596Test

المؤلفون: Caviglioli G., Russo E., Baldassari S., Zuccari G., Ailuno G., Grossi G., Villa C.

المساهمون: Caviglioli, G., Russo, E., Baldassari, S., Zuccari, G., Ailuno, G., Grossi, G., Villa, C.

وصف الملف: ELETTRONICO

العلاقة: ispartofbook:Proceedings of XXIII Simposio ADRITELF; XXIII Simposio ADRITELF; firstpage:1; lastpage:2; numberofpages:2; https://hdl.handle.net/11567/1172595Test

الإتاحة: https://hdl.handle.net/11567/1172595Test

المؤلفون: Jaudon F., Baldassari S., Musante I., Thalhammer A., Zara F., Cingolani L. A.

المساهمون: Jaudon, F., Baldassari, S., Musante, I., Thalhammer, A., Zara, F., Cingolani, L. A.

مصطلحات موضوعية: Alternative splicing, Antisense oligonucleotide, CRISPR/Cas9, Episodic ataxia type 2, P/Q-type Ca2+channel, SMaRT

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32899500; info:eu-repo/semantics/altIdentifier/wos/WOS:000580269400001; volume:8; issue:9; firstpage:332; lastpage:355; numberofpages:24; journal:BIOMEDICINES; http://hdl.handle.net/11368/2978800Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85090755336; https://www.mdpi.com/2227-9059/8/9/332Test

الإتاحة: https://doi.org/10.3390/biomedicines8090332Test
http://hdl.handle.net/11368/2978800Test
https://www.mdpi.com/2227-9059/8/9/332Test

المؤلفون: Accogli A., Severino M., Riva A., Madia F., Balagura G., Iacomino M., Carlini B., Baldassari S., Giacomini T., Croci C., Pisciotta L., Messana T., Boni A., Russo A., Bilo L., Tonziello R., Coppola A., Filla A., Mecarelli O., Casalone R., Pisani F., Falsaperla R., Marino S., Parisi P., Ferretti A., Elia M., Luchetti A., Milani D., Vanadia F., Silvestri L., Rebessi E., Parente E., Vatti G., Mancardi M. M., Nobili L., Capra V., Salpietro V., Striano P., Zara F.

المساهمون: Accogli, A., Severino, M., Riva, A., Madia, F., Balagura, G., Iacomino, M., Carlini, B., Baldassari, S., Giacomini, T., Croci, C., Pisciotta, L., Messana, T., Boni, A., Russo, A., Bilo, L., Tonziello, R., Coppola, A., Filla, A., Mecarelli, O., Casalone, R., Pisani, F., Falsaperla, R., Marino, S., Parisi, P., Ferretti, A., Elia, M., Luchetti, A., Milani, D., Vanadia, F., Silvestri, L., Rebessi, E., Parente, E., Vatti, G., Mancardi, M. M., Nobili, L., Capra, V., Salpietro, V., Striano, P., Zara, F.

مصطلحات موضوعية: brain MRI, gene panel, malformations of cortical development, next-generation sequencing

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32570172; info:eu-repo/semantics/altIdentifier/wos/WOS:000565178800032; volume:80; firstpage:145; lastpage:152; numberofpages:8; journal:SEIZURE; https://hdl.handle.net/11573/1472360Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85086508127

الإتاحة: https://doi.org/10.1016/j.seizure.2020.05.023Test
https://hdl.handle.net/11573/1472360Test