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1دورية أكاديمية
المؤلفون: Alberto Palladino, Luigia Passamano, Marianna Scutifero, Salvatore Morra, Esther Picillo, Andrea Antonio Papa, Gerardo Nigro, Luisa Politano
المصدر: Cardiogenetics, Vol 14, Iss 1, Pp 38-50 (2024)
مصطلحات موضوعية: late-onset Pompe disease, heart rhythm disorders, myocardial involvement, risk of arrhythmias, Diseases of the circulatory (Cardiovascular) system, RC666-701
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Emanuela Viggiano, Esther Picillo, Luigia Passamano, Maria Elena Onore, Giulio Piluso, Marianna Scutifero, Annalaura Torella, Vincenzo Nigro, Luisa Politano
المصدر: Genes, Vol 14, Iss 1, p 214 (2023)
مصطلحات موضوعية: DMD gene variants, DMD gene variants in southern Italy, deletions, duplications, point mutations, gene therapy, Genetics, QH426-470
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Alberto Palladino, Andrea Antonio Papa, Roberta Petillo, Marianna Scutifero, Salvatore Morra, Luigia Passamano, Vincenzo Nigro, Luisa Politano
المصدر: Genes, Vol 13, Iss 2, p 258 (2022)
مصطلحات موضوعية: progressive cardiac conduction disease, atrio-ventricular block, right bundle branch block, Cardiac channelopathy, Genetics, QH426-470
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Chiara Orsini, Roberta Petillo, Paola D'Ambrosio, Manuela Ergoli, Esther Picillo, Marianna Scutifero, Luigia Passamano, Alessandro De Luca, Luisa Politano
المصدر: Frontiers in Neurology, Vol 11 (2020)
مصطلحات موضوعية: CLCN1 mutations, myotonia congenita, Becker myotonia, Thomsen myotonia, southern Italy, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Raffaella Cascella, Claudia Strafella, Valerio Caputo, Rosaria Maria Galota, Valeria Errichiello, Marianna Scutifero, Roberta Petillo, Gian Luca Marella, Mauro Arcangeli, Luca Colantoni, Stefania Zampatti, Enzo Ricci, Giancarlo Deidda, Luisa Politano, Emiliano Giardina
المصدر: Frontiers in Neurology, Vol 9 (2018)
مصطلحات موضوعية: facioscapulohumeral muscular dystrophy, DUX4 gene, SMCHD1 gene, methylation analysis, neuromuscular symptoms, genetic counseling, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Marika Pane, Giorgia Coratti, Claudia Brogna, Elena Stacy Mazzone, Anna Mayhew, Lavinia Fanelli, Sonia Messina, Adele D'Amico, Michela Catteruccia, Marianna Scutifero, Silvia Frosini, Valentina Lanzillotta, Giulia Colia, Filippo Cavallaro, Enrica Rolle, Roberto De Sanctis, Nicola Forcina, Roberta Petillo, Andrea Barp, Alice Gardani, Antonella Pini, Giulia Monaco, Maria Grazia D'Angelo, Riccardo Zanin, Gian Luca Vita, Claudio Bruno, Tiziana Mongini, Federica Ricci, Elena Pegoraro, Luca Bello, Angela Berardinelli, Roberta Battini, Valeria Sansone, Emilio Albamonte, Giovanni Baranello, Enrico Bertini, Luisa Politano, Maria Pia Sormani, Eugenio Mercuri
المصدر: PLoS ONE, Vol 13, Iss 6, p e0199223 (2018)
وصف الملف: electronic resource
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7
المؤلفون: Amir, Dori, Michela, Guglieri, Marianna, Scutifero, Luigia, Passamano, Antonio, Trabacca, Luisa, Politano
المصدر: Acta Myologica
مصطلحات موضوعية: Adult, Duchenne muscular dystrophy, Oxadiazoles, symptomatic carriers, ataluren, Middle Aged, Dystrophin, Muscular Dystrophy, Duchenne, Mutation, Humans, nonsense mutations, Female, Original Article, manifesting carriers, Follow-Up Studies
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::1409ef77157192597d2e525facfb425f
http://europepmc.org/articles/PMC8744011 -
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المؤلفون: Marianna, Scutifero, Michele, Lanza, Roberta, Petillo, Maddalena, De Bernardo, Luigia, Passamano, Nicola, Rosa, Luisa, Politano
المساهمون: Scutifero, Marianna, Lanza, Michele, Petillo, Roberta, De Bernardo, Maddalena, Passamano, Luigia, Rosa, Nicola, Politano, Luisa
مصطلحات موضوعية: Adult, Male, Steinert disease, cataract, prevalence, gender, Humans, Myotonic Dystrophy, Myotonic Dystrophy type 1, Female, Cataract Extraction, cataract surgery, Muscular Dystrophies
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::600503ef7f1c085044a3a0db79887d5a
https://hdl.handle.net/11591/484213 -
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المؤلفون: Paola D'Ambrosio, Marianna Scutifero, Esther Picillo, Roberta Petillo, Alessandro De Luca, Chiara Orsini, Luisa Politano, Manuela Ergoli, L. Passamano
المساهمون: Orsini, G., Petillo, R., D'Ambrosio, P., Ergoli, M., Picillo, E., Scutifero, M., Passamano, L., De Luca, A., Politano, L.
المصدر: Frontiers in Neurology, Vol 11 (2020)
Frontiers in Neurologyمصطلحات موضوعية: 0301 basic medicine, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, lcsh:RC346-429, 03 medical and health sciences, Autosomal recessive trait, 0302 clinical medicine, southern Italy, medicine, Becker myotonia, Allele, lcsh:Neurology. Diseases of the nervous system, Original Research, Genetics, CLCN1, biology, Myotonia congenita, Thomsen myotonia, Autosomal dominant trait, Myotonia, medicine.disease, Penetrance, CLCN1 mutation, CLCN1 mutations, 030104 developmental biology, Muscle relaxation, Neurology, biology.protein, Neurology (clinical), myotonia congenita, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed09ed19d0c15b629109ca6de2381dcd
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10
المؤلفون: Claudio Bruno, Matteo La Rosa, Marika Pane, Angela Berardinelli, Tiziana Mongini, Arianna Palmieri, Gian Luca Vita, M.G. Distefano, Carmelo Rodolico, Sonia Marcato, Sonia Messina, Luisa Politano, Enrico Bertini, Maria Sframeli, Marianna Scutifero, Carlo Minetti, Giuseppe Vita, Stefania Mondello, Eugenio Mercuri, Maria Grazia D'Angelo, C. Barcellona, Giovanni Baranello, Elena Pegoraro, Lucia Morandi, Elena S. Mazzone, Adele D'Amico
المساهمون: Messina, Sonia, Vita, Gian Luca, Sframeli, Maria, Mondello, Stefania, Mazzone, Elena, D'Amico, Adele, Berardinelli, Angela, La Rosa, Matteo, Bruno, Claudio, Distefano, Maria Grazia, Baranello, Giovanni, Barcellona, Costanza, Scutifero, Marianna, Marcato, Sonia, Palmieri, Arianna, Politano, Luisa, Morandi, Lucia, Mongini, Tiziana, Pegoraro, Elena, D'Angelo, Maria Grazia, Pane, Marika, Rodolico, Carmelo, Minetti, Carlo, Bertini, Enrico, Vita, Giuseppe, Mercuri, Eugenio
المصدر: Neuromuscular Disorders
مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, PedsQLTM, Duchenne muscular dystrophy, Longitudinal Studie, Severity of Illness Index, Outcome measures, PedsQL™, Quality of life, Neurology (clinical), Pediatrics, Perinatology and Child Health, Genetics (clinical), Neurology, Correlation, Outcome measure, 0302 clinical medicine, Surveys and Questionnaires, Surveys and Questionnaire, Genetics(clinical), Muscular Dystrophy, Longitudinal Studies, Prospective Studies, Child, Prospective cohort study, Fatigue, Core (anatomy), Medicine (all), Perinatology and Child Health, Adolescent, Child, Preschool, Humans, Muscular Dystrophy, Duchenne, Quality of Life, humanities, Ambulatory, PedsQL(TM), Human, medicine.medical_specialty, Clinical Neurology, Article, 03 medical and health sciences, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Severity of illness, medicine, Pediatrics, Perinatology, and Child Health, Preschool, business.industry, Duchenne, medicine.disease, Prospective Studie, 030104 developmental biology, Physical therapy, sense organs, business, 030217 neurology & neurosurgery