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

Relation: https://www.mdpi.com/2035-8148/14/1/3; https://doaj.org/toc/2035-8253; https://doaj.org/toc/2035-8148

URL الوصول: https://doaj.org/article/97197456b4004927ac93b6d7e9f09f54

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

Relation: https://www.mdpi.com/2073-4425/14/1/214; https://doaj.org/toc/2073-4425

URL الوصول: https://doaj.org/article/1687a8866c2c471a8ac9ff4dc241482b

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

Relation: https://www.mdpi.com/2073-4425/13/2/258; https://doaj.org/toc/2073-4425

URL الوصول: https://doaj.org/article/0921b28293c24695865becd4c8d43db6

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

Relation: https://www.frontiersin.org/article/10.3389/fneur.2020.00063/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/71a47cd98b004640882217ae4a7879f9

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

Relation: https://www.frontiersin.org/article/10.3389/fneur.2018.01027/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/763a97acd8ba4288a546e927b0d934b5

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)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC6010252?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/cc1aff978b914be49b61d84545d3c9c7

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

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

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 Neurology

مصطلحات 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

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac96b9e5dce832a46a3d30874218e56b