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

العلاقة: https://www.frontiersin.org/articles/10.3389/fphar.2022.869842/fullTest; https://doaj.org/toc/1663-9812Test

الوصول الحر: https://doaj.org/article/eb136ca074eb40f49475d81e492175b1Test

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

وصف الملف: application/pdf

الإتاحة: http://urn.fi/urn:nbn:fi-fe2023022728799Test

المؤلفون: Guerrini, Renzo, Mei, Davide, Szigeti, Margit 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

المصدر: Guerrini R, Mei D, Szigeti MK, et al. Phenotypic and genetic spectrum of ATP6V1A encephalopathy: A disorder of lysosomal homeostasis. Brain . 2022;145(8):2687-2703. doi: 10.1093/brain/awac145

مصطلحات موضوعية: Neurology (clinical)

العلاقة: info:eu-repo/semantics/altIdentifier/issn/0006-8950; info:eu-repo/semantics/altIdentifier/issn/1460-2156; info:eu-repo/semantics/altIdentifier/wos/000807770000001; info:eu-repo/grantAgreement/EC/H2020/754411; https://research-explorer.ista.ac.at/record/12174Test

الإتاحة: https://doi.org/10.1093/brain/awac145Test
https://research-explorer.ista.ac.at/record/12174Test

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

مصطلحات موضوعية: Pharmacology (medical)

الإتاحة: https://doi.org/10.1007/s40801-022-00305-7Test

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, Scappini, Barbara, Sodi, Andrea, Vannucchi, Alessandro Maria, Coi, Alessio

المصدر: Frontiers in Pharmacology ; volume 13 ; ISSN 1663-9812

الإتاحة: https://doi.org/10.3389/fphar.2022.869842Test

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

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

الوصول الحر: https://doaj.org/article/63dff72e33f34ab4ac3c3052f51159f4Test

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

المصدر: Drugs - Real World Outcomes. 9:451-461

مصطلحات موضوعية: Pharmacology (medical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f08b7d66c22c7bf8bb55cb2f9dbef5cTest
https://doi.org/10.1007/s40801-022-00305-7Test

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

العلاقة: Brain; http://hdl.handle.net/20.500.12210/84149Test

الإتاحة: https://doi.org/20.500.12210/84149Test
https://hdl.handle.net/20.500.12210/84149Test

المؤلفون: Guerrini, R, Mei, D, Kerti-Szigeti, K, Pepe, S, Koenig, MK, Von Allmen, G, Cho, MT, McDonald, K, Baker, J, Bhambhani, V, Powis, Z, Rodan, L, Nabbout, R, Barcia, G, Rosenfeld, JA, Bacino, CA, Mignot, C, Power, LH, Harris, CJ, Marjanovic, D, Moller, RS, Hammer, TB, Filppula, RK, Vieira, P, Hildebrandt, C, Sacharow, S, Maragliano, L, Benfenati, F, Lachlan, K, Benneche, A, Petit, F, de Sainte Agathe, JM, Hallinan, B, Si, Y, Wentzensen, IM, Zou, FG, 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: Guerrini, R, Mei, D, Kerti-Szigeti, K, Pepe, S, Koenig, M, Von Allmen, G, Cho, M, Mcdonald, K, Baker, J, Bhambhani, V, Powis, Z, Rodan, L, Nabbout, R, Barcia, G, Rosenfeld, J, Bacino, C, Mignot, C, Power, L, Harris, C, Marjanovic, D, Moller, R, Hammer, T, Filppula, R, Vieira, P, Hildebrandt, C, Sacharow, S, Maragliano, L, Benfenati, F, Lachlan, K, Benneche, A, Petit, F, de Sainte Agathe, J, Hallinan, B, Si, Y, Wentzensen, I, 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

مصطلحات موضوعية: epileptic encephalopathy, lysosomal disorder, progressive brain atrophy, developmental delay, Adenosine Triphosphate, Atrophy, Child, Homeostasis, Humans, Infant, Lysosomes, Phenotype, Brain Diseases, Epilepsy, Intellectual Disability, Spasms, Infantile, Vacuolar Proton-Translocating ATPases, Settore MED/04 - PATOLOGIA GENERALE, Settore MED/26 - NEUROLOGIA

العلاقة: 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/2108/308735Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85142145538

الإتاحة: https://doi.org/10.1093/brain/awac145Test
https://hdl.handle.net/2108/308735Test

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64372a64dd1c73136889cdd2bce088d1Test
https://doi.org/10.1111/epi.16363Test