-
1دورية 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
العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2024.1284459/fullTest; https://doaj.org/toc/1664-2295Test
-
2دورية أكاديمية
المؤلفون: Matteo Gastaldi, Diego Franciotta, Mario Cirillo, Sara Prioni, Micol Avenali, Fabrizio Esposito, Chiara Reale, Valentina Leta, Enza Maria Valente, Anna Pichiecchio, Barbara Garavaglia, Roberto Eleopra, Marina Grisoli, Roberto Cilia, Luigi Romito, Maria Grazia Bruzzone, Alessandro Tessitore, Ilaria Palmieri, Giada Cuconato, Fabiana Colucci, Pierfrancesco Mitrotti, Rosita De Micco, Marco Fusar Poli, Silvia Cerri, Mario Stanziano, Ana Bacila, Valentina Franco, Cristina Ghezzi, Antonio Emanuele Elia, Grazia Devigili, Nico Golfrè Andreasi, Federico Cazzaniga, Caterina Galandra, Giancarlo Germani, Gerardo Ongari, Marta Picascia, Mattia Verri, Federica Di Nardo, Simone Aloisio, Mattia Siciliano, Paolo Amami, Sylvie Piacentini, Fabio Moda
المصدر: BMJ Neurology Open, Vol 5, Iss 2 (2023)
مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
العلاقة: https://neurologyopen.bmj.com/content/5/2/e000535.fullTest; https://doaj.org/toc/2632-6140Test
-
3دورية أكاديمية
المؤلفون: Lara M. Lange, Micol Avenali, Melina Ellis, Anastasia Illarionova, Ignacio J. Keller Sarmiento, Ai-Huey Tan, Harutyun Madoev, Caterina Galandra, Johanna Junker, Karisha Roopnarain, Justin Solle, Claire Wegel, Zih-Hua Fang, Peter Heutink, Kishore R. Kumar, Shen-Yang Lim, Enza Maria Valente, Mike Nalls, Cornelis Blauwendraat, Andrew Singleton, Niccolo Mencacci, Katja Lohmann, Christine Klein, the Global Parkinson’s Genetic Program (GP2)
المصدر: npj Parkinson's Disease, Vol 9, Iss 1, Pp 1-3 (2023)
مصطلحات موضوعية: Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2373-8057Test
-
4دورية أكاديمية
المؤلفون: Lara M. Lange, Micol Avenali, Melina Ellis, Anastasia Illarionova, Ignacio J. Keller Sarmiento, Ai-Huey Tan, Harutyun Madoev, Caterina Galandra, Johanna Junker, Karisha Roopnarain, Justin Solle, Claire Wegel, Zih-Hua Fang, Peter Heutink, Kishore R. Kumar, Shen-Yang Lim, Enza Maria Valente, Mike Nalls, Cornelis Blauwendraat, Andrew Singleton, Niccolo Mencacci, Katja Lohmann, Christine Klein, the Global Parkinson’s Genetic Program (GP2)
المصدر: npj Parkinson's Disease, Vol 9, Iss 1, Pp 1-5 (2023)
مصطلحات موضوعية: Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2373-8057Test
-
5دورية أكاديمية
المؤلفون: Simone Schröder, Gökhan Yigit, Yun Li, Janine Altmüller, Hans-Martin Büttel, Barbara Fiedler, Christoph Kretzschmar, Peter Nürnberg, Jürgen Seeger, Valentina Serpieri, Enza Maria Valente, Bernd Wollnik, Eugen Boltshauser, Knut Brockmann
المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-11 (2023)
مصطلحات موضوعية: Congenital ocular motor apraxia, Cogan syndrome, Joubert syndrome, Molar tooth sign, Ciliopathy, Poretti–Boltshauser syndrome, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
-
6دورية أكاديمية
المؤلفون: Paola De Filippi, Edoardo Errichiello, Antonio Toscano, Tiziana Mongini, Maurizio Moggio, Sabrina Ravaglia, Massimiliano Filosto, Serenella Servidei, Olimpia Musumeci, Fabio Giannini, Alberto Piperno, Gabriele Siciliano, Giulia Ricci, Antonio Di Muzio, Miriam Rigoldi, Paola Tonin, Michele Giovanni Croce, Elena Pegoraro, Luisa Politano, Lorenzo Maggi, Roberta Telese, Alberto Lerario, Cristina Sancricca, Liliana Vercelli, Claudio Semplicini, Barbara Pasanisi, Bruno Bembi, Andrea Dardis, Ilaria Palmieri, Cristina Cereda, Enza Maria Valente, Cesare Danesino
المصدر: Current Issues in Molecular Biology, Vol 45, Iss 4, Pp 2847-2860 (2023)
مصطلحات موضوعية: late-onset Pompe disease (LOPD), exonic variants, glycogen synthesis, glycogen catabolism, genotype–phenotype correlates, genetic modifiers, Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: https://www.mdpi.com/1467-3045/45/4/186Test; https://doaj.org/toc/1467-3037Test; https://doaj.org/toc/1467-3045Test
-
7دورية أكاديمية
المؤلفون: Adriana Prato, Lara Cirnigliaro, Federica Maugeri, Antonina Luca, Loretta Giuliano, Giuseppina Vitiello, Edoardo Errichiello, Enza Maria Valente, Ennio Del Giudice, Giovanni Mostile, Renata Rizzo, Rita Barone
المصدر: Journal of Clinical Medicine, Vol 13, Iss 4, p 1109 (2024)
مصطلحات موضوعية: DCC, mirror movements, ACC, dystonic postures, Medicine
وصف الملف: electronic resource
-
8دورية أكاديمية
المؤلفون: Roberto Franceschi, Evelina Maines, Maria Bellizzi, Francesca Rivieri, Andrea Bacca, Alessandra Filippi, Enza Maria Valente, Massimo Plumari, Massimo Soffiati, Monica Vincenzi, Francesca Teofoli, Marta Camilot
المصدر: Archives of Endocrinology and Metabolism, Vol 67, Iss 1, Pp 143-149 (2023)
مصطلحات موضوعية: Medicine, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
العلاقة: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972023000100143&tlng=enTest; https://doaj.org/toc/2359-4292Test
-
9دورية أكاديمية
المؤلفون: Stefano Facchini, Natalia Dominik, Arianna Manini, Stephanie Efthymiou, Riccardo Currò, Bianca Rugginini, Elisa Vegezzi, Ilaria Quartesan, Benedetta Perrone, Shahedah Koya Kutty, Valentina Galassi Deforie, Ricardo P. Schnekenberg, Elena Abati, Anna Pichiecchio, Enza Maria Valente, Cristina Tassorelli, Mary M. Reilly, Henry Houlden, Enrico Bugiardini, Andrea Cortese
المصدر: Biomolecules, Vol 13, Iss 10, p 1546 (2023)
مصطلحات موضوعية: optical genome mapping, Southern Blotting, CANVAS, RFC1, bionano, repeat expansion, Microbiology, QR1-502
وصف الملف: electronic resource
-
10دورية أكاديمية
المؤلفون: Eva-Juliane Vollstedt, Harutyun Madoev, Anna Aasly, Azlina Ahmad-Annuar, Bashayer Al-Mubarak, Roy N Alcalay, Victoria Alvarez, Ignacio Amorin, Grazia Annesi, David Arkadir, Soraya Bardien, Roger A Barker, Melinda Barkhuizen, A Nazli Basak, Vincenzo Bonifati, Agnita Boon, Laura Brighina, Kathrin Brockmann, Andrea Carmine Belin, Jonathan Carr, Jordi Clarimon, Mario Cornejo-Olivas, Leonor Correia Guedes, Jean-Christophe Corvol, David Crosiers, Joana Damásio, Parimal Das, Patricia de Carvalho Aguiar, Anna De Rosa, Jolanta Dorszewska, Sibel Ertan, Rosangela Ferese, Joaquim Ferreira, Emilia Gatto, Gençer Genç, Nir Giladi, Pilar Gómez-Garre, Hasmet Hanagasi, Nobutaka Hattori, Faycal Hentati, Dorota Hoffman-Zacharska, Sergey N Illarioshkin, Joseph Jankovic, Silvia Jesús, Valtteri Kaasinen, Anneke Kievit, Peter Klivenyi, Vladimir Kostic, Dariusz Koziorowski, Andrea A Kühn, Anthony E Lang, Shen-Yang Lim, Chin-Hsien Lin, Katja Lohmann, Vladana Markovic, Mika Henrik Martikainen, George Mellick, Marcelo Merello, Lukasz Milanowski, Pablo Mir, Özgür Öztop-Çakmak, Márcia Mattos Gonçalves Pimentel, Teeratorn Pulkes, Andreas Puschmann, Ekaterina Rogaeva, Esther M Sammler, Maria Skaalum Petersen, Matej Skorvanek, Mariana Spitz, Oksana Suchowersky, Ai Huey Tan, Pichet Termsarasab, Avner Thaler, Vitor Tumas, Enza Maria Valente, Bart van de Warrenburg, Caroline H Williams-Gray, Ruey-Mei Wu, Baorong Zhang, Alexander Zimprich, Justin Solle, Shalini Padmanabhan, Christine Klein
المصدر: PLoS ONE, Vol 18, Iss 10, p e0292180 (2023)
وصف الملف: electronic resource
العلاقة: https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0292180&type=printableTest; https://doaj.org/toc/1932-6203Test
النص الكامل