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1دورية أكاديمية
المؤلفون: Pasquale Esposito, Carmela Caputo, Monica Repetto, Alberto Somaschini, Bellone Pietro, Paolo Colomba, Carmela Zizzo, Angelica Parodi, Valentina Zanetti, Marco Canepa, Virginia Eustachi, Francesca Sanguineri, Paola Mandich, Francesca Viazzi
المصدر: BMC Nephrology, Vol 24, Iss 1, Pp 1-11 (2023)
مصطلحات موضوعية: Fabry disease, Fabry nephropathy, Kidney biopsy, Chronic kidney disease, Glomerulonephritis, ADPKD, Diseases of the genitourinary system. Urology, RC870-923
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1471-2369
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2دورية أكاديمية
المؤلفون: Emiliano Giardina, Paola Mandich, Roberta Ghidoni, Nicola Ticozzi, Giacomina Rossi, Chiara Fenoglio, Francesco Danilo Tiziano, Federica Esposito, Sabina Capellari, Benedetta Nacmias, Rossana Mineri, Rosa Campopiano, Luana Di Pilla, Federica Sammarone, Stefania Zampatti, Cristina Peconi, Flavio De Angelis, Ilaria Palmieri, Caterina Galandra, Eleonora Nicodemo, Paola Origone, Fabio Gotta, Clarissa Ponti, Roland Nicsanu, Luisa Benussi, Silvia Peverelli, Antonia Ratti, Martina Ricci, Giuseppe Di Fede, Stefania Magri, Maria Serpente, Serena Lattante, Teuta Domi, Paola Carrera, Elisa Saltimbanco, Silvia Bagnoli, Assunta Ingannato, Alberto Albanese, Fabrizio Tagliavini, Raffaele Lodi, Carlo Caltagirone, Stefano Gambardella, Enza Maria Valente, Vincenzo Silani
المصدر: Frontiers in Neurology, Vol 15 (2024)
مصطلحات موضوعية: C9orf72, GGGGCC hexanucleotide repeat, amyotrophic lateral sclerosis, frontotemporal dementia, allele distribution, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Andrea Gaudio, Fabio Gotta, Clarissa Ponti, Francesca Sanguineri, Lucia Trevisan, Alessandro Geroldi, Serena Patrone, Chiara Gemelli, Corrado Cabona, Guja Astrea, Chiara Fiorillo, Stefano Gustincich, Marina Grandis, Paola Mandich
المصدر: Frontiers in Neurology, Vol 14 (2023)
مصطلحات موضوعية: hereditary myopathies, UBR4, HSPG2, episodic ataxia, genetic modifiers, genetic testing, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Federica Ruscitti, Paola Origone, Giulia Rosti, Lucia Trevisan, Roberta Marchese, Andrea Brugnolo, Federico Massa, Paola Castellini, Paola Mandich
المصدر: Clinical Case Reports, Vol 10, Iss 10, Pp n/a-n/a (2022)
مصطلحات موضوعية: brazilian ancestry, chorea, huntington disease‐like 2, JPH3, Medicine, Medicine (General), R5-920
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2050-0904
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5دورية أكاديمية
المؤلفون: Antonio Canosa, Andrea Calvo, Gabriele Mora, Cristina Moglia, Maura Brunetti, Marco Barberis, Giuseppe Borghero, Claudia Caponnetto, Francesca Trojsi, Rossella Spataro, Paolo Volanti, Isabella Laura Simone, Fabrizio Salvi, Francesco Ottavio Logullo, Nilo Riva, Lucio Tremolizzo, Fabio Giannini, Jessica Mandrioli, Raffaella Tanel, Maria Rita Murru, Paola Mandich, Francesca Luisa Conforti, Marcella Zollino, Mario Sabatelli, Claudia Tarlarini, Christian Lunetta, Letizia Mazzini, Sandra D’Alfonso, Nathalie Guy, Vincent Meininger, Pierre Clavelou, William Camu, Adriano Chiò, on behalf of ITALSGEN Consortium
المصدر: Biomedicines, Vol 11, Iss 3, p 704 (2023)
مصطلحات موضوعية: amyotrophic lateral sclerosis, SOD1, HFE, p.H63D, survival, Biology (General), QH301-705.5
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Gemma Marinella, Guja Astrea, Bianca Buchignani, Denise Cassandrini, Stefano Doccini, Massimiliano Filosto, Daniele Galatolo, Salvatore Gallone, Fabio Giannini, Diego Lopergolo, Maria Antonietta Maioli, Francesca Magri, Alessandro Malandrini, Paola Mandich, Francesco Mari, Roberto Massa, Sabrina Mata, Federico Melani, Maurizio Moggio, Tiziana E. Mongini, Rosa Pasquariello, Elena Pegoraro, Federica Ricci, Giulia Ricci, Carmelo Rodolico, Anna Rubegni, Gabriele Siciliano, Martina Sperti, Chiara Ticci, Paola Tonin, Filippo M. Santorelli, Roberta Battini
المصدر: International Journal of Molecular Sciences, Vol 23, Iss 23, p 14567 (2022)
مصطلحات موضوعية: COL6-RM, COL6A1, COL6A2, COL6A3, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
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7دورية أكاديمية
المؤلفون: Federica Ruscitti, Lucia Trevisan, Giulia Rosti, Fabio Gotta, Annalia Cianflone, Alessandro Geroldi, Paola Origone, Anna Pichiecchio, Simona Viglio, Maria Iascone, Paola Mandich
المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 9, Pp n/a-n/a (2021)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2324-9269
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8دورية أكاديمية
المؤلفون: Chiara Gemelli, Alessandro Geroldi, Sara Massucco, Lucia Trevisan, Ilaria Callegari, Lucio Marinelli, Giulia Ursino, Mehrnaz Hamedani, Giulia Mennella, Silvia Stara, Giovanni Maggi, Laura Mori, Cristina Schenone, Fabio Gotta, Serena Patrone, Alessia Mammi, Paola Origone, Valeria Prada, Lucilla Nobbio, Paola Mandich, Angelo Schenone, Emilia Bellone, Marina Grandis
المصدر: Life, Vol 12, Iss 3, p 402 (2022)
مصطلحات موضوعية: Charcot–Marie–Tooth (CMT) disease, neuropathy, genetic, phenotype, Science
وصف الملف: electronic resource
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9دورية أكاديمية
المؤلفون: Valeria Prada, Sara Massucco, Consuelo Venturi, Alessandro Geroldi, Emilia Bellone, Paola Mandich, Michele Minuto, Emanuela Varaldo, Giovanni Mancardi, Marina Grandis, Angelo Schenone
المصدر: Frontiers in Neurology, Vol 10 (2019)
مصطلحات موضوعية: sural nerve biopsy, vasculitic neuropathy, amyloidotic neuropathy, neuropathy, axonal neuropathies, demyelinating neuropathies, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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10دورية أكاديمية
المؤلفون: Marina Grandis, Alessandro Geroldi, Rossella Gulli, Fiore Manganelli, Fabio Gotta, Merit Lamp, Paola Origone, Lucia Trevisan, Chiara Gemelli, Sabrina Fabbri, Angelo Schenone, Stefano Tozza, Lucio Santoro, Emilia Bellone, Paola Mandich
المصدر: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-3 (2018)
مصطلحات موضوعية: TTR, CMT2, Polyneuropathy, Medicine
وصف الملف: electronic resource