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1دورية أكاديمية
المؤلفون: Alessandro Furia, Raffaello Ditaranto, Elena Biagini, Vanda Parisi, Alex Incensi, Sara Parisini, Rocco Liguori, Vincenzo Donadio
المصدر: BMC Neurology, Vol 24, Iss 1, Pp 1-5 (2024)
مصطلحات موضوعية: Fabry disease, Heart, Skin, Biopsy, Globotriaosylceramide, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1471-2377Test
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2دورية أكاديمية
المؤلفون: Irene Simonetta, Renata Riolo, Federica Todaro, Vincenzo Donadio, Alex Incensi, Salvatore Miceli, Paolo Colomba, Giovanni Duro, Antonino Tuttolomondo
المصدر: Frontiers in Genetics, Vol 15 (2024)
مصطلحات موضوعية: Anderson–Fabry disease, de novo pathogenic variant, one family member, renal disease, case report, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2024.1368953/fullTest; https://doaj.org/toc/1664-8021Test
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3دورية أكاديمية
المؤلفون: Chelva Janarthanam, Griffin Clabaugh, Zerui Wang, Bradley R. Melvin, Ileia Scheibe, Huajun Jin, Vellareddy Anantharam, Ramona J. B. Urbauer, Jeffrey L. Urbauer, Jiyan Ma, Arthi Kanthasamy, Xuemei Huang, Vincenzo Donadio, Wenquan Zou, Anumantha G. Kanthasamy
المصدر: International Journal of Molecular Sciences, Vol 25, Iss 11, p 5988 (2024)
مصطلحات موضوعية: Parkinson’s disease, pathological α-synuclein, αSyn, seed amplification assay (SAA), Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
العلاقة: https://www.mdpi.com/1422-0067/25/11/5988Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test
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4دورية أكاديمية
المؤلفون: Irene Simonetta, Renata Riolo, Federica Todaro, Vincenzo Donadio, Alex Incensi, Salvatore Miceli, Paolo Colomba, Giovanni Duro, Antonino Tuttolomondo
المصدر: Frontiers in Genetics, Vol 14 (2023)
مصطلحات موضوعية: Anderson–Fabry disease, de novo pathogenic variant, one family member, renal disease, case report, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2023.1122893/fullTest; https://doaj.org/toc/1664-8021Test
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5دورية أكاديمية
المؤلفون: Susan Mohamed, Giovanna Lopane, Loredana Sabattini, Cinzia Scandellari, Diletta Zardi, Vincenzo Donadio, Giovanni Rizzo, Alessandro Perrone, Alessandra Lugaresi, Manuela Contin
المصدر: Frontiers in Neurology, Vol 13 (2022)
مصطلحات موضوعية: cannabidiol, delta-9-tetrahydrocannabinol, cannabis oil, cannabis oromucosal spray, neurology, pharmacokinetics, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2022.784748/fullTest; https://doaj.org/toc/1664-2295Test
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6دورية أكاديمية
المؤلفون: Angela Mammana, Simone Baiardi, Marcello Rossi, Alessia Franceschini, Vincenzo Donadio, Sabina Capellari, Byron Caughey, Piero Parchi
المصدر: Annals of Clinical and Translational Neurology, Vol 7, Iss 4, Pp 559-564 (2020)
مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2328-9503Test
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7دورية أكاديمية
المؤلفون: Elena Antelmi, Fabio Pizza, Vincenzo Donadio, Marco Filardi, Yuri L. Sosero, Alex Incensi, Stefano Vandi, Monica Moresco, Raffaele Ferri, Sara Marelli, Luigi Ferini‐Strambi, Rocco Liguori, Giuseppe Plazzi
المصدر: Annals of Clinical and Translational Neurology, Vol 6, Iss 9, Pp 1872-1876 (2019)
مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2328-9503Test
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8دورية أكاديمية
المصدر: Molecules, Vol 26, Iss 23, p 7358 (2021)
مصطلحات موضوعية: lyso-Gb3, UHPLC-MS/MS, Fabry disease, protein precipitation, Organic chemistry, QD241-441
وصف الملف: electronic resource
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9دورية أكاديمية
المؤلفون: Matteo Foschi, Veria Vacchiano, Patrizia Avoni, Alex Incensi, Stella Battaglia, Vincenzo Donadio, Elena Panzeri, Maria Teresa Bassi, Rocco Liguori, Giovanni Rizzo
المصدر: Frontiers in Neurology, Vol 10 (2019)
مصطلحات موضوعية: adrenoleukodystrophy, small fiber neuropathy, skin biopsy, MRI, adrenomyelopathy, brain development defects, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/article/10.3389/fneur.2019.00070/fullTest; https://doaj.org/toc/1664-2295Test
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10دورية أكاديمية
المؤلفون: Angelica D'Amore, Alessandra Tessa, Carlo Casali, Maria Teresa Dotti, Alessandro Filla, Gabriella Silvestri, Antonella Antenora, Guja Astrea, Melissa Barghigiani, Roberta Battini, Carla Battisti, Irene Bruno, Cristina Cereda, Clemente Dato, Giuseppe Di Iorio, Vincenzo Donadio, Monica Felicori, Nicola Fini, Chiara Fiorillo, Salvatore Gallone, Federica Gemignani, Gian Luigi Gigli, Claudio Graziano, Renzo Guerrini, Fiorella Gurrieri, Ariana Kariminejad, Maria Lieto, Charles Marques LourenḈo, Alessandro Malandrini, Paola Mandich, Christian Marcotulli, Francesco Mari, Luca Massacesi, Maria A. B. Melone, Andrea Mignarri, Roberta Milone, Olimpia Musumeci, Elena Pegoraro, Alessia Perna, Antonio Petrucci, Antonella Pini, Francesca Pochiero, Maria Roser Pons, Ivana Ricca, Salvatore Rossi, Marco Seri, Franco Stanzial, Francesca Tinelli, Antonio Toscano, Mariarosaria Valente, Antonio Federico, Anna Rubegni, Filippo Maria Santorelli
المصدر: Frontiers in Neurology, Vol 9 (2018)
مصطلحات موضوعية: hereditary spastic paraplegia, next generation sequencing, neurogenetics, diagnostic yield, variants of unknown significance, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/article/10.3389/fneur.2018.00981/fullTest; https://doaj.org/toc/1664-2295Test