المؤلفون: Boncristiano, Alessandra, Balestrini, Simona, Doccini, Viola, Specchio, Nicola, Pietrafusa, Nicola, Trivisano, Marina, Darra, Francesca, Cossu, Alberto, Battaglia, Domenica, Quintiliani, Michela, Gambardella, M. Luigia, Parente, Eliana, Monni, Rita, Matricardi, Sara, Marini, Carla, Ragona, Francesca, Granata, Tiziana, Striano, Pasquale, Riva, Antonella, Guerrini, Renzo

المساهمون: Ministero della Salute

المصدر: Epilepsia ; ISSN 0013-9580 1528-1167

الاتاحة: https://doi.org/10.1111/epi.18241
https://onlinelibrary.wiley.com/doi/pdf/10.1111/epi.18241

المؤلفون: Guerrini, Renzo, Mei, Davide, Kerti-Szigeti, Katalin, Pepe, Sara, Koenig, Mary Kay, Von Allmen, Gretchen, Cho, Megan T, McDonald, Kimberly, Baker, Janice, Bhambhani, Vikas, Powis, Zöe, Rodan, Lance, Nabbout, Rima, Barcia, Giulia, Rosenfeld, Jill A, Bacino, Carlos A, Mignot, Cyril, Power, Lillian H, Harris, Catharine J, Marjanovic, Dragan, Møller, Rikke S, Hammer, Trine B, Keski Filppula, Riikka, Vieira, Päivi, Hildebrandt, Clara, Sacharow, Stephanie, Maragliano, Luca, Benfenati, Fabio, Lachlan, Katherine, Benneche, Andreas, Petit, Florence, de Sainte Agathe, Jean-Madeleine, Hallinan, Barbara, Si, Yue, Wentzensen, Ingrid M, Zou, Fanggeng, Narayanan, Vinodh, Matsumoto, Naomichi, Boncristiano, Alessandra, la Marca, Giancarlo, Kato, Mitsuhiro, Anderson, Kristin, Barba, Carmen, Sturiale, Luisa, Garozzo, Domenico, Bei, Roberto, Masuelli, Laura, Conti, Valerio, Novarino, Gaia, Fassio, Anna

المساهمون: Guerrini, Renzo, Mei, Davide, Kerti-Szigeti, Katalin, Pepe, Sara, Koenig, Mary Kay, Von Allmen, Gretchen, Cho, Megan T, Mcdonald, Kimberly, Baker, Janice, Bhambhani, Vika, Powis, Zöe, Rodan, Lance, Nabbout, Rima, Barcia, Giulia, Rosenfeld, Jill A, Bacino, Carlos A, Mignot, Cyril, Power, Lillian H, Harris, Catharine J, Marjanovic, Dragan, Møller, Rikke S, Hammer, Trine B, Keski Filppula, Riikka, Vieira, Päivi, Hildebrandt, Clara, Sacharow, Stephanie, Maragliano, Luca, Benfenati, Fabio, Lachlan, Katherine, Benneche, Andrea, Petit, Florence, de Sainte Agathe, Jean-Madeleine, Hallinan, Barbara, Si, Yue, Wentzensen, Ingrid M, Zou, Fanggeng, Narayanan, Vinodh, Matsumoto, Naomichi, Boncristiano, Alessandra, la Marca, Giancarlo, Kato, Mitsuhiro, Anderson, Kristin, Barba, Carmen, Sturiale, Luisa, Garozzo, Domenico, Bei, Roberto, Masuelli, Laura, Conti, Valerio, Novarino, Gaia, Fassio, Anna

مصطلحات موضوعية: ATP6V1A, developmental delay, epileptic encephalopathy, lysosomal disorder, progressive brain atrophy

Relation: info:eu-repo/semantics/altIdentifier/pmid/35675510; info:eu-repo/semantics/altIdentifier/wos/WOS:000807770000001; volume:145; issue:8; firstpage:2687; lastpage:2703; numberofpages:17; journal:BRAIN; https://hdl.handle.net/11566/303452

الاتاحة: https://hdl.handle.net/11566/303452
https://doi.org/10.1093/brain/awac145

المؤلفون: Francesca Gorini, Michele Santoro, Anna Pierini, Lorena Mezzasalma, Silvia Baldacci, Elena Bargagli, Alessandra Boncristiano, Maurizia Rossana Brunetto, Paolo Cameli, Francesco Cappelli, Giancarlo Castaman, Barbara Coco, Maria Alice Donati, Renzo Guerrini, Silvia Linari, Vittoria Murro, Iacopo Olivotto, Paola Parronchi, Francesca Pochiero, Oliviero Rossi, Barbara Scappini, Andrea Sodi, Alessandro Maria Vannucchi, Alessio Coi

المصدر: Frontiers in Pharmacology, Vol 13 (2022)

مصطلحات موضوعية: orphan drug, rare disease, registry, population-based, prescription, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fphar.2022.869842/full; https://doaj.org/toc/1663-9812

URL الوصول: https://doaj.org/article/eb136ca074eb40f49475d81e492175b1

المؤلفون: Balestrini, Simona, Doccini, Viola, Boncristiano, Alessandra, Lenge, Matteo, De Masi, Salvatore, Guerrini, Renzo

المصدر: Drugs - Real World Outcomes ; volume 9, issue 3, page 451-461 ; ISSN 2199-1154 2198-9788

الاتاحة: http://dx.doi.org/10.1007/s40801-022-00305-7
https://link.springer.com/content/pdf/10.1007/s40801-022-00305-7.pdf
https://link.springer.com/article/10.1007/s40801-022-00305-7/fulltext.html

المؤلفون: F. Sorrentino, F. Boncristiano, F. Greco, A. D’Aloia, P. Di Gioia, L. Nappi

المصدر: Clinical and Experimental Obstetrics & Gynecology, Vol 47, Iss 1, Pp 139-141 (2020)

مصطلحات موضوعية: paraovarian cyst, borderline ovarian tumors, pregnancy, Gynecology and obstetrics, RG1-991

وصف الملف: electronic resource

Relation: https://www.imrpress.com/journal/CEOG/47/1/10.31083/j.ceog.2020.01.5123; https://doaj.org/toc/0390-6663

URL الوصول: https://doaj.org/article/63dff72e33f34ab4ac3c3052f51159f4

المؤلفون: Guerrini, R., Mei, D., Kerti-Szigeti, K., Pepe, S., Koenig, M. K., Von Allmen, G., Cho, M. T., Mcdonald, K., Baker, J., Bhambhani, V., Powis, Z., Rodan, L., Nabbout, R., Barcia, G., Rosenfeld, J. A., Bacino, C. A., Mignot, C., Power, L. H., Harris, C. J., Marjanovic, D., Møller, R. S., Hammer, T. B., Keski Filppula, R., Vieira, P., Hildebrandt, C., Sacharow, S., Maragliano, L., Benfenati, F., Lachlan, K., Benneche, A., Petit, Florence, De Sainte Agathe, J. M., Hallinan, B., Si, Y., Wentzensen, I. M., Zou, F., Narayanan, V., Matsumoto, N., Boncristiano, A., La Marca, G., Kato, M., Anderson, K., Barba, C., Sturiale, L., Garozzo, D., Bei, R., Masuelli, L., Conti, V., Novarino, G., Fassio, A.

المساهمون: Université de Lille, CHU Lille, Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364

مصطلحات موضوعية: epileptic encephalopathy, lysosomal disorder, progressive brain atrophy, developmental delay

وصف الملف: application/octet-stream

Relation: Brain; http://hdl.handle.net/20.500.12210/84149

الاتاحة: https://hdl.handle.net/20.500.12210/84149

المؤلفون: Guerrini, R. (Renzo), Mei, D. (Davide), Kerti-Szigeti, K. (Katalin), Pepe, S. (Sara), Koenig, M. K. (Mary Kay), Von Allmen, G. (Gretchen), Cho, M. T. (Megan T), McDonald, K. (Kimberly), Baker, J. (Janice), Bhambhani, V. (Vikas), Powis, Z. (Zöe), Rodan, L. (Lance), Nabbout, R. (Rima), Barcia, G. (Giulia), Rosenfeld, J. A. (Jill A), Bacino, C. A. (Carlos A), Mignot, C. (Cyril), Power, L. H. (Lillian H), Harris, C. J. (Catharine J), Marjanovic, D. (Dragan), Møller, R. S. (Rikke S), Hammer, T. B. (Trine B), T. D. (The DDD Study), Keski Filppula, R. (Riikka), Vieira, P. (Päivi), Hildebrandt, C. (Clara), Sacharow, S. (Stephanie), U. D. (Undiagnosed Diseases Network), Maragliano, L. (Luca), Benfenati, F. (Fabio), Lachlan, K. (Katherine), Benneche, A. (Andreas), Petit, F. (Florence), de Sainte Agathe, J. M. (Jean Madeleine), Hallinan, B. (Barbara), Si, Y. (Yue), Wentzensen, I. M. (Ingrid M), Zou, F. (Fanggeng), Narayanan, V. (Vinodh), Matsumoto, N. (Naomichi), Boncristiano, A. (Alessandra), la Marca, G. (Giancarlo), Kato, M. (Mitsuhiro), Anderson, K. (Kristin), Barba, C. (Carmen), Sturiale, L. (Luisa), Garozzo, D. (Domenico), Bei, R. (Roberto), A. c. (ATP6V1A collaborators), Masuelli, L. (Laura), Conti, V. (Valerio), Novarino, G. (Gaia), Fassio, A. (Anna)

مصطلحات موضوعية: developmental delay, epileptic encephalopathy, lysosomal disorder, ATP6V1A, progressive brain atrophy

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______2423::3d87197087e6ddb6b11e6edcbbf5ae62
http://urn.fi/urn:nbn:fi-fe2023022728799

المؤلفون: Tozzi, Elisabetta, Boncristiano, Alessandra, Antenucci, Annarita, Di Loreto, Simona, Farello, Giovanni

المصدر: The Journal of Headache and Pain ; volume 16, issue S1 ; ISSN 1129-2369 1129-2377

الاتاحة: http://dx.doi.org/10.1186/1129-2377-16-s1-a84
http://link.springer.com/article/10.1186/1129-2377-16-S1-A84/fulltext.html
http://link.springer.com/content/pdf/10.1186/1129-2377-16-S1-A84.pdf

المؤلفون: Matteo Lenge, Renzo Guerrini, Anna Rosati, Alessandra Pugi, Tiziana Pisano, Alessandra Boncristiano, Viola Doccini, Salvatore De Masi

المصدر: Epilepsia. 60:2255-2262

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Drug Resistant Epilepsy, Pediatrics, medicine.medical_specialty, Time Factors, Clobazam, Adolescent, Young Adult, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Dravet syndrome, Interquartile range, medicine, Stiripentol, Humans, Prospective Studies, Child, Adverse effect, Retrospective Studies, business.industry, Infant, Dioxolanes, medicine.disease, Treatment Outcome, 030104 developmental biology, Neurology, Tolerability, Child, Preschool, Adjunctive treatment, Anticonvulsants, Drug Therapy, Combination, Female, Neurology (clinical), business, 030217 neurology & neurosurgery, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64372a64dd1c73136889cdd2bce088d1
https://doi.org/10.1111/epi.16363

المؤلفون: Plyte, S., Boncristiano, M., Fattori, E., Galvagni, Federico, Rossi Paccani, S., Majolini, S. B., Oliviero, S., Ciliberto, G., Telford, J. L., Baldari, Cosima

المساهمون: Plyte, S., Boncristiano, M., Fattori, E., Galvagni, Federico, Rossi Paccani, S., Majolini, S. B., Oliviero, S., Ciliberto, G., Telford, J. L., Baldari, Cosima

مصطلحات موضوعية: T cell activation, reporter mouse, NFAT

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/11278367; info:eu-repo/semantics/altIdentifier/wos/WOS:000168356600111; volume:276; issue:17; firstpage:14350; lastpage:14358; numberofpages:9; journal:THE JOURNAL OF BIOLOGICAL CHEMISTRY; http://hdl.handle.net/11365/20902; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-0035957967; http://www.jbc.org/content/276/17/14350.long

الاتاحة: http://hdl.handle.net/11365/20902
https://doi.org/10.1074/jbc.M007854200
http://www.jbc.org/content/276/17/14350.long

المؤلفون: Gorini, Francesca, Santoro, Michele, Pierini, Anna, Mezzasalma, Lorena, Baldacci, Silvia, Bargagli, Elena, Boncristiano, Alessandra, Brunetto, Maurizia Rossana, Cameli, Paolo, Cappelli, Francesco, Castaman, Giancarlo, Coco, Barbara, Donati, Maria Alice, Guerrini, Renzo, Linari, Silvia, Murro, Vittoria, Olivotto, Iacopo, Parronchi, Paola, Pochiero, Francesca, Rossi, Oliviero

المصدر: Frontiers in Pharmacology; 5/16/2022, Vol. 13, p1-19, 19p

مصطلحات موضوعية: ORPHAN drugs, ORPHANS, RARE diseases, DRUG utilization, IDIOPATHIC pulmonary fibrosis, TUBEROUS sclerosis

الشركة/الكيان: EUROPEAN Union, EUROPEAN Medicines Agency

المؤلفون: Marianna Boncristiano, Silvia Rossi Paccani, Silvia Barone, Cristina Ulivieri, Laura Patrussi, Dag Ilver, Amedeo Amedei, Mario Milco D’elios, John L. Telford, Cosima T. Baldari

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://jem.rupress.org/content/198/12/1887.full.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.321.7725; http://jem.rupress.org/content/198/12/1887.full.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.321.7725
http://jem.rupress.org/content/198/12/1887.full.pdf

المؤلفون: Boncristiano, Marianna, Paccani, Silvia Rossi, Barone, Silvia, Ulivieri, Cristina, Patrussi, Laura, Ilver, Dag, Amedei, Amedeo, D'Elios, Mario Milco, Telford, John L., Baldari, Cosima T.

المصدر: The Journal of Experimental Medicine ; volume 198, issue 12, page 1887-1897 ; ISSN 1540-9538 0022-1007

الاتاحة: http://dx.doi.org/10.1084/jem.20030621
https://rupress.org/jem/article-pdf/198/12/1887/1841285/jem198121887.pdf

المؤلفون: BONCRISTIANO, FEDERICA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8494704bf9c258a8cc7cdd535bcd765b

المؤلفون: Paccani, Silvia Rossi, Boncristiano, Marianna, Ulivieri, Cristina, D'Elios, Mario Milco, Del Prete, Gianfranco, Baldari, Cosima T.

المصدر: Journal of Biological Chemistry ; volume 277, issue 2, page 1509-1513 ; ISSN 0021-9258

الاتاحة: http://dx.doi.org/10.1074/jbc.m110676200
https://api.elsevier.com/content/article/PII:S0021925820879538?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0021925820879538?httpAccept=text/plain
https://syndication.highwire.org/content/doi/10.1074/jbc.M110676200

المؤلفون: Luis Geraldo Gomes da Silva, Alexander Lucas Busse, João Manoel Losada Moreira, Tatiana Yuri Boncristiano Ozeki

المساهمون: Universidade Federal do ABC

المصدر: Revista Tecnologia e Sociedade; v. 16, n. 42 (2020); 58-74
Revista Tecnologia e Sociedade
Universidade Tecnológica Federal do Paraná (UTFPR)
instacron:UTFPR

مصطلحات موضوعية: Tolerância a Falhas, Diagrama de bloco de confiabilidade, Segurança Nuclear, Sistemas de proteção digital, General Materials Science, 3.09.00.00-0 e 3.09.04.05-6

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76dc795efde12db050fab603202c4ba3
https://doi.org/10.3895/rts.v16n42.9780

المؤلفون: DE GENNARO, ALESSANDRA CATERINA, Casiero, Daniela, CHINCOLI, ANNAROSA, Boncristiano, Fabrizio, Esposito, Giampiero, VIMERCATI, antonella

المساهمون: DE GENNARO, ALESSANDRA CATERINA, Casiero, Daniela, Chincoli, Annarosa, Boncristiano, Fabrizio, Esposito, Giampiero, Vimercati, Antonella

مصطلحات موضوعية: ultrasound and prenatal diagnsosi and ductus venous

Relation: volume:48; issue:S1; firstpage:56; lastpage:56; numberofpages:1; journal:ULTRASOUND IN OBSTETRICS & GYNECOLOGY; http://hdl.handle.net/11586/179345

الاتاحة: http://hdl.handle.net/11586/179345

المؤلفون: Atwood, Craig S., Perry, George, Smith, Mark A., Pfeifer, M., Boncristiano, S., Bondolfi, L., Stalder, A., Deller, T., Staufenbiel, M., Mathews, P. M., Jucker, M.

المصدر: Science, 2003 Feb . 299(5609), 1014-1014.

URL الوصول: https://www.jstor.org/stable/3833533

المؤلفون: Pfeifer, M., Boncristiano, S., Bondolfi, L., Stalder, A., Deller, T., Staufenbiel, M., Mathews, P. M., Jucker, M.

المصدر: Science, 2002 Nov . 298(5597), 1379-1379.

URL الوصول: https://www.jstor.org/stable/3832782

المؤلفون: de Gennaro, A., Casiero, D., Chincoli, A., Boncristiano, F., Esposito, G., Vimercati, A.

المصدر: Ultrasound in Obstetrics & Gynecology ; volume 48, issue S1, page 56-56 ; ISSN 0960-7692 1469-0705

الاتاحة: http://dx.doi.org/10.1002/uog.16173
https://obgyn.onlinelibrary.wiley.com/doi/pdf/10.1002/uog.16173