المؤلفون: Sabrina Lucchiari, Francesco Fortunato, Giovanni Meola, Andrea Mignarri, Serena Pagliarani, Stefania Corti, Giacomo P. Comi, Dario Ronchi

المصدر: Frontiers in Genetics, Vol 15 (2024)

مصطلحات موضوعية: myotonia congenita, CLCN1, Western blot, splicing, exonic splicing silencer, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1486977/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/3f4c069e461a4546a1bbd4c61a7a6bbc

المؤلفون: Elena Abati, Claudia Alberti, Valentina Tambè, Anastasia Esseridou, Giacomo Pietro Comi, Stefania Corti, Giovanni Meola, Francesco Secchi

المصدر: Frontiers in Neurology, Vol 15 (2024)

مصطلحات موضوعية: myotonic dystrophy, extracellular volume, sudden cardiac death, conduction disturbances, imaging biomarkers, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2024.1493570/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/da753a0e46cc4c63b35ded990dd14567

المؤلفون: Milija Mijajlovic, Ivo Bozovic, Aleksandra Pavlovic, Vidosava Rakocevic-Stojanovic, Sanja Gluscevic, Amalija Stojanovic, Ivana Basta, Giovanni Meola, Stojan Peric

المصدر: Heliyon, Vol 10, Iss 5, Pp e26856- (2024)

مصطلحات موضوعية: Myotonic dystrophy type 1, Myotonic dystrophy type 2, Transcranial sonography, Substantia nigra, Nucleus raphe, Science (General), Q1-390, Social sciences (General), H1-99

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2405844024028871; https://doaj.org/toc/2405-8440

URL الوصول: https://doaj.org/article/119b45579f9b4ba49855f8a94f9a9c72

المؤلفون: Samah K. Aburahma, Liqa A. Rousan, Mohammad Shboul, Fabio Biella, Sabrina Lucchiari, Giacomo Pietro Comi, Giovanni Meola, Serena Pagliarani

المصدر: Frontiers in Neurology, Vol 15 (2024)

مصطلحات موضوعية: congenital myopathy, episodic weakness, CACNA1S, Cav1.1, DHPR, splice minigene assay, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2024.1359479/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/6569a66ef1434ed79db81c82146022f2

المؤلفون: Urša Šušnjar, Neva Škrabar, Anna-Leigh Brown, Yasmine Abbassi, Hemali Phatnani, NYGC ALS Consortium, Andrea Cortese, Cristina Cereda, Enrico Bugiardini, Rosanna Cardani, Giovanni Meola, Michela Ripolone, Maurizio Moggio, Maurizio Romano, Maria Secrier, Pietro Fratta, Emanuele Buratti

المصدر: Communications Biology, Vol 5, Iss 1, Pp 1-17 (2022)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2399-3642

URL الوصول: https://doaj.org/article/a2a3e5c080324289af930097b013f70e

المؤلفون: Jordi Diaz-Manera, Channa Hewamadduma, Giovanni Meola, Federica Montagnese, Sabrina Sacconi, Philipp von Gallwitz, Ulrike Nowak, Robert Pleticha, Alla Zozulya Weidenfeller

المصدر: European Medical Journal, Vol 6, Iss 2, Pp 37-46 (2021)

مصطلحات موضوعية: caregivers, fatigue, genetic testing, neuromuscular conditions, non-dystrophic myotonias (ndm), pain, quality of life (qol), unmet needs, Medicine

وصف الملف: electronic resource

Relation: https://www.emjreviews.com/neurology/article/understanding-the-impact-of-non-dystrophic-myotonia-on-patients-and-caregivers-results-from-a-burden-of-disease-healthcare-survey-j190221/; https://doaj.org/toc/2397-6764

URL الوصول: https://doaj.org/article/c418f92159634fe89070876f1b18b46a

المؤلفون: Serena Pagliarani, Giovanni Meola, Melania Filareti, Giacomo Pietro Comi, Sabrina Lucchiari

المصدر: Frontiers in Neurology, Vol 13 (2022)

مصطلحات موضوعية: myotonia, paramyotonia, channelopathies, CLCN1, SCN4A, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2022.845383/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/e43e8d10320f4369910af52ed3114d5a

المؤلفون: Chiara Fiorillo, Edoardo Malfatti, Giovanni Meola

المصدر: Frontiers in Neurology, Vol 13 (2022)

مصطلحات موضوعية: muscle biopsy, NGS, congenital myopathies, floppy infant, TNPO3, RYR1, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2022.1004562/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/114fce821c2e4141a1f69a5d0d173886

المؤلفون: Stojan Peric, Jelena Zlatar, Luka Nikolic, Vukan Ivanovic, Jovan Pesovic, Ivana Petrovic Djordjevic, Svetlana Sreckovic, Dusanka Savic-Pavicevic, Giovanni Meola, Vidosava Rakocevic-Stojanovic

المصدر: Frontiers in Neurology, Vol 13 (2022)

مصطلحات موضوعية: myotonic dystrophy type 2 (DM2), autoimmune diseases, antinuclear antibodies, antineutrophil cytoplasmic antibodies, Hashimoto autoimmune thyroiditis, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2022.932883/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/64b68df33c9d40bc8b3fb5062abb08d0

المؤلفون: Partha S. Sarkar, Giovanni Meola, Nan Zhang

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: neurodegeneration, alzheimer’s disease, parkinson’s disease, amyloid, alpha-Synuclein, single-cell RNA sequencing, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.941846/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/5a73bf48ba4c4909a46fb15f2fe1dfba

المؤلفون: Michele Cavalli, Rosanna Cardani, Laura Valentina Renna, Mauro Toffetti, Luisa Villa, Giovanni Meola

المصدر: Frontiers in Neurology, Vol 12 (2021)

مصطلحات موضوعية: MATR3, muscular biopsy, multisystem proteinopathy, distal myopathy with vocal cord paralysis, motor neuron, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2021.715386/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/d687d36d85104367893ddda28c1c1a78

المؤلفون: Annalisa Botta, Virginia Veronica Visconti, Luana Fontana, Paola Bisceglia, Mario Bengala, Roberto Massa, Ilaria Bagni, Rosanna Cardani, Federica Sangiuolo, Giovanni Meola, Giovanni Antonini, Antonio Petrucci, Elena Pegoraro, Maria Rosaria D’Apice, Giuseppe Novelli

المصدر: Frontiers in Genetics, Vol 12 (2021)

مصطلحات موضوعية: myotonic dystrophy type 2, CNBP premutations, alleles distribution, DM2 genetic testing, penetrance, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2021.668094/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/325488be5a6d4db4b095871af31ea877

المؤلفون: Mattia Pozzato, Emanuele Micaglio, Chiara Starvaggi Cucuzza, Alessandro Cagol, Daniela Galimberti, Daniela Calandrella, Claudia Cinnante, Carlo Pappone, Monica Zanussi, Giovanni Meola, Elio Scarpini, Nereo Bresolin, Filippo Martinelli Boneschi

المصدر: Frontiers in Neurology, Vol 11 (2021)

مصطلحات موضوعية: multiple sclerosis, rituximab, hepatotoxicity, case report, familal mediterranean fever, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2020.591395/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/7f93f91c898e4da1b7875a87f5f2acd1

المؤلفون: Sara Leddy, Laura Serra, Davide Esposito, Camilla Vizzotto, Giovanni Giulietti, Gabriella Silvestri, Antonio Petrucci, Giovanni Meola, Leonardo Lopiano, Mara Cercignani, Marco Bozzali

المصدر: NeuroImage: Clinical, Vol 29, Iss , Pp 102562- (2021)

مصطلحات موضوعية: DM1, qMT, MS, Lesion, White matter, MRI, Computer applications to medicine. Medical informatics, R858-859.7, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2213158221000061; https://doaj.org/toc/2213-1582

URL الوصول: https://doaj.org/article/f7ee9065975945bf82dbefba6af979f6

المؤلفون: Serena Pagliarani, Sabrina Lucchiari, Marina Scarlato, Elisa Redaelli, Anna Modoni, Francesca Magri, Barbara Fossati, Stefano C. Previtali, Valeria A. Sansone, Marzia Lecchi, Mauro Lo Monaco, Giovanni Meola, Giacomo P. Comi

المصدر: Frontiers in Neurology, Vol 11 (2020)

مصطلحات موضوعية: myotonia, sodium channel myotonia, founder effect, channelopathy, Nav 1.4, mexiletine, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fneur.2020.00255/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/c7a31aa7be364a4685451faa56264d52

المؤلفون: Marco Alì, Caterina Beatrice Monti, Luca Melazzini, Rosanna Cardani, Barbara Fossati, Michele Cavalli, Kelvin Chow, Francesco Secchi, Giovanni Meola, Francesco Sardanelli

المصدر: Frontiers in Neurology, Vol 11 (2020)

مصطلحات موضوعية: myotonic dystrophy, cardiac magnetic resonance, myocardial strain imaging, extracellular volume, cardiac fibrosis, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fneur.2020.00192/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/3e34543a147c4b9bbc317eb1d83dba35

المؤلفون: Chantal Sellier, Estefanía Cerro-Herreros, Markus Blatter, Fernande Freyermuth, Angeline Gaucherot, Frank Ruffenach, Partha Sarkar, Jack Puymirat, Bjarne Udd, John W. Day, Giovanni Meola, Guillaume Bassez, Harutoshi Fujimura, Masanori P. Takahashi, Benedikt Schoser, Denis Furling, Ruben Artero, Frédéric H. T. Allain, Beatriz Llamusi, Nicolas Charlet-Berguerand

المصدر: Nature Communications, Vol 9, Iss 1, Pp 1-15 (2018)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/cc4a1e87ad4646d6a2914e7d2348f083

المؤلفون: Claudia Provenzano, Marisa Cappella, Rea Valaperta, Rosanna Cardani, Giovanni Meola, Fabio Martelli, Beatrice Cardinali, Germana Falcone

المصدر: Molecular Therapy: Nucleic Acids, Vol 9, Iss C, Pp 337-348 (2017)

مصطلحات موضوعية: myotonic dystrophy type 1, CRISPR/Cas9, trinucleotide expansion, splicing alterations, phenotypic reversion, DM1 cell models, DMPK, CTG repeats, muscle disease, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2162253117302676; https://doaj.org/toc/2162-2531

URL الوصول: https://doaj.org/article/7e27d926bd9a40c3b80dd9a0df8362d4

المؤلفون: Laura Serra, Guendalina Bianchi, Michela Bruschini, Giovanni Giulietti, Carlotta Di Domenico, Sabrina Bonarota, Antonio Petrucci, Gabriella Silvestri, Alessia Perna, Giovanni Meola, Carlo Caltagirone, Marco Bozzali

المصدر: Frontiers in Neurology, Vol 11 (2020)

مصطلحات موضوعية: myotonic dystrophy type-1, social cognition, cortical thickness, MRI, emotions, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fneur.2020.00113/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/26b8be6c1d324e12968b443340df32ac

المؤلفون: Francesca Bosè, Laura Valentina Renna, Barbara Fossati, Giovanni Arpa, Valentina Labate, Valentina Milani, Annalisa Botta, Emanuele Micaglio, Giovanni Meola, Rosanna Cardani

المصدر: Frontiers in Neurology, Vol 10 (2019)

مصطلحات موضوعية: myotonic dystrophies, cardiac troponin T, cardiac involvement, skeletal muscle, alternative splicing, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fneur.2019.00992/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/ac389430a7aa4ec891c90214847ccbdb