المؤلفون: Gloria, Ferrantini, Giorgia, Coratti, Roberta, Onesimo, Simona, Lucibello, Sarah, Bompard, Ida, Turrini, Graziamaria, Cicala, Michela, Caprarelli, Maria Carmela, Pera, Chiara, Bravetti, Beatrice, Berti, Valentina, Giorgio, Claudio, Bruno, Noemi, Brolatti, Chiara, Panicucci, Adele, D'Amico, Antonella, Longo, Chiara, Leoni, Valeria A, Sansone, Emilio, Albamonte, Sonia, Messina, Maria, Sframeli, Enrico, Bertini, Marika, Pane, Eugenio, Mercuri

المصدر: European journal of pediatrics. 181(5)

مصطلحات موضوعية: Adult, Spinal, Adolescent, Body Mass Index, Muscular Atrophy, Spinal, Young Adult, Neonate, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Nutritional status, Humans, Longitudinal Studies, Preschool, Child, Children, Retrospective Studies, Body Weight, Infant, Newborn, Infant, Spinal muscular atrophy, Newborn, Muscular Atrophy, Settore MED/26 - NEUROLOGIA, Cross-Sectional Studies, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Child, Preschool, Pediatrics, Perinatology and Child Health

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4d5614481d28dbde1c8ae8b2533f2f1Test
https://pubmed.ncbi.nlm.nih.gov/35048179Test

المؤلفون: Sonia Messina, Claudio Bruno, E. Mazzone, Eugenio Mercuri, Valeria A. Sansone, Claudia Brogna, Gianluca Vita, Francesco Muntoni, Marika Pane, Tiziana Mongini, Giovanni Baranello, Erik H. Niks, Mary Chesshyre, Francesca Magri, Volker Straub, Enrico Bertini, Elena Pegoraro, Luca Bello, Alice Donati, Silvana De Lucia, Stefano C. Previtali, Valeria Ricotti, Adele D'Amico, Jean-Yves Hogrel, Nathalie Goemans, Roberta Battini, Giacomo P. Comi, Laurent Servais, Giorgia Coratti, Federica Ricci, Imelda J. M. de Groot, Luisa Politano, Angela Berardinelli

المصدر: PLoS ONE, 16(6). PUBLIC LIBRARY SCIENCE
PLoS ONE
PLoS ONE, Vol 16, Iss 6, p e0253882 (2021)

مصطلحات موضوعية: Male, Heredity, Genetic Linkage, Epidemiology, Physiology, Duchenne muscular dystrophy, Walking, Duchenne Muscular Dystrophy, Severity of Illness Index, Muscular Dystrophies, Dystrophin, Exon, 0302 clinical medicine, Medical Conditions, Medicine and Health Sciences, 030212 general & internal medicine, Muscular Dystrophy, Longitudinal Studies, Child, Baseline values, Multidisciplinary, Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, Organic Compounds, Men, Exons, Multidisciplinary Sciences, Chemistry, Deletion Mutation, Neurology, X-Linked Traits, Sex Linkage, Ambulatory, Physical Sciences, Disease Progression, Medicine, Science & Technology - Other Topics, Steroids, exon skipping, Research Article, medicine.medical_specialty, Science, Natural history of disease, 03 medical and health sciences, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Internal medicine, medicine, Genetics, Humans, Clinical Genetics, Science & Technology, business.industry, Biological Locomotion, Organic Chemistry, Chemical Compounds, Biology and Life Sciences, Human Genetics, medicine.disease, Duchenne, Human genetics, Exon skipping, Follow-Up Studies, Muscular Dystrophy, Duchenne, Mutation, Clinical trial, Natural History of Disease, Medical Risk Factors, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf; Electronic-eCollection

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de7208ef0a5c3984e1eb8d2853199ed7Test
http://hdl.handle.net/1887/3249481Test

المؤلفون: Nuovo S, Bacigalupo I, Ginevrino M, Battini R, Bertini E, Borgatti R, Casella A, Micalizzi A, Nardella M, Romaniello R, Serpieri V, Zanni G, Valente EM, Vanacore N, JS Italian Study Group. JS Italian Study Group: Patrizia Accorsi, Enrico Alfei, Elena Andreucci, Gianluigi Ardissino, Emanuela Avola, Rita Barone, Francesco Benedicenti, Stefania Bigoni, Loredana Boccone, Maria T. Bonati, Stefania Bova, Marilena Briguglio, Silvana Briuglia, Olga Calabrese, Gaetano Cantalupo, Gianluca Caridi, Monica Cazzagon, Maria E. Celle, Maria R. Cilio, Giangennaro Coppola, Adele D’Amico, Stefano D’Arrigo, Daniele De Brasi, Maria Fulvia de Leva, Ennio Del Giudice, Marilena Carmela Di Giacomo, Maria Lucia Di Sabato, Bruno Dallapiccola, Raffaella Devescovi, Maria Cristina Digilio, Ilaria Donati, Maria A. Donati, Maria T. Dotti, Francesco Emma, Antonella Fabretto, Elisa Fazzi, Alessandra Ferlini, Alessandro Ferraris, Giovanni Battista Ferrero, Anna Ficcadenti, Simona Fiori, Rita Fischetto, Elena Freri, Livia Garavelli, Mattia Gentile, Lucio Giordano, Donatella Greco, Claudia Izzi, Vincenzo Leuzzi, Elisabetta Lucarelli, Silvia Majore, Maria M. Mancardi, Francesca Mari, Giuseppina Marra, Laura Mazzanti, Daniela Melis, Emanuele Micaglio, Marisol Mirabelli-Badenier, Isabella Moroni, Nardo Nardocci, Margherita Nosadini, Simona Orcesi, Giovanni Pagani, Chiara Pantaleoni, Francesco Papadia Papadia, Pasquale Parisi, Maria Grazia Patricelli, Cinzia Peruzzi, Alice Pessagno, Maria Piccione, Antonella Pini, Tiziana Pisano, Livia Pisciotta, Marzia Pollazzon, Francesca Rivieri, Alfonso Romano, Corrado Romano, Leonardo Salviati, Carmelo Damiano Salpietro, Margherita Santucci, Emanuela Scarano, Barbara Scelsa, Alberto Sensi, Marco Seri, Sabrina Signorini, Margherita Silengo, Alessandro Simonati, Fabio Sirchia, Luigina Spaccini, Franco Stanzial, Gilda Stringini, Eva Trevisson, Antonella Trivelli, Vera Uliana, Graziella Uziel, Gessica Vasco, Marina Vascotto, Giuseppina Vitiello, Federica Zibordi

المساهمون: Nuovo, S, Bacigalupo, I, Ginevrino, M, Battini, R, Bertini, E, Borgatti, R, Casella, A, Micalizzi, A, Nardella, M, Romaniello, R, Serpieri, V, Zanni, G, Valente, Em, Vanacore, N, JS Italian Study Group: Patrizia Accorsi, JS Italian Study Group., Enrico, Alfei, Elena, Andreucci, Gianluigi, Ardissino, Emanuela, Avola, Rita, Barone, Francesco, Benedicenti, Stefania, Bigoni, Loredana, Boccone, Bonati, Maria T., Stefania, Bova, Marilena, Briguglio, Silvana, Briuglia, Olga, Calabrese, Gaetano, Cantalupo, Gianluca, Caridi, Monica, Cazzagon, Celle, Maria E., Cilio, Maria R., Giangennaro, Coppola, Adele, D’Amico, Stefano, D’Arrigo, Daniele De Brasi, Maria Fulvia de Leva, Ennio Del Giudice, Marilena Carmela Di Giacomo, Maria Lucia Di Sabato, Bruno, Dallapiccola, Raffaella, Devescovi, Digilio, MARIA CRISTINA, Ilaria, Donati, Donati, Maria A., Dotti, Maria T., Francesco, Emma, Antonella, Fabretto, Elisa, Fazzi, Alessandra, Ferlini, Alessandro, Ferrari, Giovanni Battista Ferrero, Anna, Ficcadenti, Simona, Fiori, Rita, Fischetto, Elena, Freri, Livia, Garavelli, Mattia, Gentile, Lucio, Giordano, Donatella, Greco, Claudia, Izzi, Vincenzo, Leuzzi, Elisabetta, Lucarelli, Silvia, Majore, Mancardi, Maria M., Francesca, Mari, Giuseppina, Marra, Laura, Mazzanti, Daniela, Meli, Micaglio, Emanuele, Marisol, Mirabelli-Badenier, Isabella, Moroni, Nardo, Nardocci, Nosadini, Margherita, Simona, Orcesi, Giovanni, Pagani, Chiara, Pantaleoni, Francesco Papadia Papadia, Parisi, Pasquale, Maria Grazia Patricelli, Cinzia, Peruzzi, Alice, Pessagno, Maria, Piccione, Antonella, Pini, Tiziana, Pisano, Livia, Pisciotta, Marzia, Pollazzon, Francesca, Rivieri, Alfonso, Romano, Corrado, Romano, Salviati, Leonardo, Carmelo Damiano Salpietro, Margherita, Santucci, Emanuela, Scarano, Barbara, Scelsa, Alberto, Sensi, Seri, Marco, Sabrina, Signorini, Margherita, Silengo

مصطلحات موضوعية: Joubert syndrome, Italy

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31969461; info:eu-repo/semantics/altIdentifier/wos/WOS:000530853800012; volume:94; issue:8; firstpage:e797; lastpage:e801; numberofpages:5; journal:NEUROLOGY; http://hdl.handle.net/11577/3356044Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85081110222

الإتاحة: https://doi.org/10.1212/WNL.0000000000008996Test
http://hdl.handle.net/11577/3356044Test

المؤلفون: Francesca Cumbo, Flavia Cirillo, Paolo Alfieri, Maria Pia Casini, Rossella Capolino, Monia Trasolini, Serena Licchelli, Giulia Serra, Francesco Scibelli, Maria Cristina Digilio, Adele D'Amico, Marco Tartaglia, Camilla Frattini, Stefano Vicari, Cristina Caciolo

المصدر: Brain Sciences
Brain Sciences, Vol 11, Iss 233, p 233 (2021)
Volume 11
Issue 2

مصطلحات موضوعية: mood, Irritability, Article, lcsh:RC321-571, anxiety traits, 03 medical and health sciences, 0302 clinical medicine, medicine, irritability, attention deficit and hyperactivity disorder, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, 0303 health sciences, business.industry, deficient emotional self-regulation, General Neuroscience, 030305 genetics & heredity, medicine.disease, Emotional dysregulation, Developmental disorder, Mood, Mood disorders, Noonan syndrome, Anxiety, medicine.symptom, business, psychopathological features, 030217 neurology & neurosurgery, Psychopathology, Clinical psychology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49f1e7c6ca4c13ed06548f2ca96bdda5Test
http://europepmc.org/articles/PMC7918671Test

المؤلفون: Domenica Battaglia, Rosalba Carrozzo, Silvia Marchet, Costanza Lamperti, Maurizio Moggio, Alessandra Torraco, Andrea Legati, Gigliola Fagiolari, Daniele Ghezzi, Stefania Petrini, Adele D'Amico, Teresa Rizza, Michela Di Nottia, Daniela Verrigni, Daria Diodato, Alessia Nasca, Enrico Baruffini, Anna Ardissone, Isabella Moroni, Gianmarco Versienti, Margherita Verardo, Enrico Bertini, Diego Martinelli, Lucia Fusco, Emanuele Bellacchio, Giulia Trani, Paola Goffrini

المصدر: Human Mutation. 40:601-618

مصطلحات موضوعية: 0303 health sciences, Muscle biopsy, medicine.diagnostic_test, Mitochondrial disease, 030305 genetics & heredity, Mitochondrion, Biology, Peroxisome, Compound heterozygosity, medicine.disease, Cell biology, 03 medical and health sciences, DNM1L, Genetics, medicine, Mitochondrial fission, Genetics (clinical), 030304 developmental biology, Dynamin

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a243f7f7a9e8f6c0d9a7bc86b673507cTest
https://doi.org/10.1002/humu.23729Test

المؤلفون: Francesco Nicita, Lorena Travaglini, Francesco Bombelli, Michele Tosi, Stefano Pro, Enrico Bertini, Adele D'Amico

المصدر: Neurology Genetics. 8:e661

مصطلحات موضوعية: Neurology (clinical), Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5cefb065aac0da2cddf938647b6fa5dbTest
https://doi.org/10.1212/nxg.0000000000000661Test

المؤلفون: Marika Pane, Elena S. Mazzone, Lavinia Fanelli, Roberto De Sanctis, Flaviana Bianco, Serena Sivo, Adele D'Amico, Sonia Messina, Roberta Battini, Marianna Scutifero, Roberta Petillo, Silvia Frosini, Roberta Scalise, Gianluca Vita, Claudio Bruno, Marina Pedemonte, Tiziana Mongini, Elena Pegoraro, Francesca Brustia, Alice Gardani, Angela Berardinelli, Valentina Lanzillotta, Emanuela Viggiano, Filippo Cavallaro, Maria Sframeli, Luca Bello, Andrea Barp, Serena Bonfiglio, Enrica Rolle, Giulia Colia, Michela Catteruccia, Concetta Palermo, Grazia D'Angelo, Antonella Pini, Elena Iotti, Ksenija Gorni, Giovanni Baranello, Lucia Morandi, Enrico Bertini, Luisa Politano, MariaPia Sormani, Eugenio Mercuri

مصطلحات موضوعية: Genetics(clinical), Pediatrics, Perinatology, and Child Health, Neurology, Clinical Neurology

العلاقة: url:https://www.openaccessrepository.it/communities/itmirrorTest; https://www.openaccessrepository.it/record/37916Test

الإتاحة: https://doi.org/10.1016/j.nmd.2013.11.014Test
https://www.openaccessrepository.it/record/37916Test

المؤلفون: Lorenza Magliano, Maria Grazia D'angelo, Giuseppe Vita, Marika Pane, Adele D'amico, Umberto Balottin, Corrado Angelini, Roberta Battini, Luisa Politano, Melania Patalano, Alessandra Sagliocchi, Federica Civati, Erika Brighina, Gian Luca Vita, Sonia Messina, Maria Sframeli, Maria Elena Lombardo, Roberta Scalise, Giulia Colia, Maria Catteruccia, Angela Berardinelli, Maria Chiara Motta, Alessandra Gaiani, Claudio Semplicini, Luca Bello, Guja Astrea, Antonella Zaccaro, Marianna Scutifero

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://www.actamyologica.it/wp-content/uploads/2016/09/03-Magliano_Original_Art-1.pdfTest.

وصف الملف: application/pdf

العلاقة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1049.3966Test; http://www.actamyologica.it/wp-content/uploads/2016/09/03-Magliano_Original_Art-1.pdfTest

الإتاحة: http://www.actamyologica.it/wp-content/uploads/2016/09/03-Magliano_Original_Art-1.pdfTest

المؤلفون: Adele Amico Roxas, J. Mason Earles, Maciej A. Zwieniecki, Jessica Orozco, Aude Tixier

المصدر: Plant Physiology. 178:1602-1613

مصطلحات موضوعية: 0106 biological sciences, 0301 basic medicine, Canopy, Physiology, Starch, chemistry.chemical_element, Plant Science, Carbohydrate metabolism, 01 natural sciences, Trees, 03 medical and health sciences, chemistry.chemical_compound, Spatio-Temporal Analysis, Xylem, Botany, Genetics, Diel vertical migration, reproductive and urinary physiology, Carbon Isotopes, Source–sink dynamics, Chemistry, Diurnal temperature variation, food and beverages, Articles, Carbon Dioxide, Prunus dulcis, Carbon, Circadian Rhythm, nervous system diseases, Plant Leaves, 030104 developmental biology, nervous system, Carbohydrate Metabolism, biological phenomena, cell phenomena, and immunity, 010606 plant biology & botany

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c59fd83975fb4da48b0bcf3d92e36ec3Test
https://doi.org/10.1104/pp.18.00923Test

المؤلفون: Jacqueline Montes, Marika Pane, Enrico Bertini, Francesco Muntoni, Maria Carmela Pera, Anna Lia Frongia, Amy Pasternak, Eugenio Mercuri, Valeria A. Sansone, John W. Day, Maria Sframeli, Francesca Salmin, Adele D'Amico, Matthew Civitello, Simona Lucibello, Sally Dunaway Young, Claudio Bruno, Laura Antonaci, Giorgia Coratti, Sara Carnicella, Tina Duong, Darryl C. De Vivo, Richard S. Finkel, Allan M. Glanzman, Sonia Messina, Paola Tacchetti, Basil T. Darras

مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Adolescent, Oligonucleotides, Spinal Muscular Atrophies of Childhood, Cohort Studies, Upper Extremity, 03 medical and health sciences, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, 0302 clinical medicine, Internal medicine, Age related, Nusinersen, medicine, Functional outcome measures, Hammersmith Functional Motor Scale Expanded, Revised Upper Limb Module, Spinal Muscular Atrophy, Age Factors, Child, Child, Preschool, Female, Humans, Linear Models, Multivariate Analysis, Treatment effect, Preschool, Genetics (clinical), Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, business.industry, SMA, Spinal muscular atrophy type II, Natural history, 030104 developmental biology, medicine.anatomical_structure, Neurology, Pediatrics, Perinatology and Child Health, Cohort, Upper limb, Neurology (clinical), business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::506d0065b03b941235c643e5f4d33786Test
http://hdl.handle.net/11567/1087190Test