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المؤلفون: Francesca Priolo, Danilo Tiziano, Marika Pane, Giovanni Vento, Roberto De Sanctis, Eugenio Mercuri, Eloisa Tiberi, Giorgio Conti, Simonetta Costa, Domenico M. Romeo
المصدر: Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Vol 8, Iss 10, Pp 2093-2093 (2021)مصطلحات موضوعية: medicine.medical_specialty, Evidence-based practice, business.industry, General Neuroscience, Neurosciences. Biological psychiatry. Neuropsychiatry, Reply to Letter, Spinal muscular atrophy, medicine.disease, Physical medicine and rehabilitation, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, medicine, spinal muscular atrophy type 0, Neurology. Diseases of the nervous system, Neurology (clinical), RC346-429, business, RC321-571
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef809c2117c2536e3be979d3359beeabTest
http://hdl.handle.net/10807/193462Test -
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المؤلفون: Antonella Cerchiari St, Marika Pane, Beatrice Berti, Roberta Onesimo, V. Giorgio, Richard S. Finkel, Nicola Forcina, Giulia Norcia, Roberto De Sanctis, Sara Carnicella, Giorgia Coratti, Daniela Leone, Simona Lucibello, Lavinia Fanelli, Concetta Palermo, Eugenio Mercuri
مصطلحات موضوعية: medicine.medical_specialty, Physical medicine and rehabilitation, Swallowing, business.industry, medicine, SMA, business, Test (assessment)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c03713e57c6c2b693d50d1fc6dc4fb9dTest
https://doi.org/10.21203/rs.3.rs-29904/v1Test -
43
المؤلفون: Eugenio Mercuri, Sonia Messina, Jacqueline Montes, Francesco Muntoni, Valeria A. Sansone, Laura Antonaci, Matt Civitello, Giorgia Coratti, Mencia de Lemus, Roberto de Sanctis, Marcus Droege Avexis, Tina Duong, Richard Finkel, Anna Lia Frongia, Ksenija Gorni Roche, Chad Heatwole, Nicole Gusset, Erik Henricson, Anna Mayhew, Chiara Marchesi, Amy Pasternak, Astrid Pechmann, Maria Carmela Pera, Ivana Rubino, Valeria Sansone, Mary Schroth, Dylan Trundell, Volker Straub
مصطلحات موضوعية: Gerontology, Health related quality of life, Quality of life, Activities of daily living, Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, business.industry, Activity of daily living, MEDLINE, Caregiver burden, Spinal muscular atrophy, medicine.disease, SMA, Quality of life (healthcare), Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Neurology, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), business, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a631e903c9e3ed2f54be943d6ad2b113Test
http://hdl.handle.net/10807/182745Test -
44
المؤلفون: Giorgia Coratti, Marika Pane, Lavinia Fanelli, Simona Lucibello, Eugenio Mercuri, Emanuela Abiusi, Nicola Forcina, Concetta Palermo, Roberto De Sanctis, Stefania Fiori, Daniela Leone, Elena S. Mazzone, Francesco Danilo Tiziano, Maria Carmela Pera
المصدر: Neuromuscular Disorders. 28:24-28
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, DNA Copy Number Variations, Spinal Muscular Atrophies of Childhood, CHOP, Severity of Illness Index, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, Longitudinal Studies, Age of Onset, Respiratory system, Genetics (clinical), Retrospective Studies, business.industry, Infant, Spinal muscular atrophy, medicine.disease, Survival Analysis, Phenotype, Survival of Motor Neuron 2 Protein, Clinical trial, Natural history, 030104 developmental biology, Neurology, Child, Preschool, Pediatrics, Perinatology and Child Health, Cohort, Disease Progression, Nutrition Therapy, Neurology (clinical), Age of onset, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::171f4a136e565875afa901a241c6a78aTest
https://doi.org/10.1016/j.nmd.2017.09.015Test -
45
المؤلفون: Roberto De Sanctis, Sally Dunaway Young, Rachel Salazar, Jacqueline Montes, Danilo Tiziano, Leonardo Lapenta, Francesco Muntoni, Laura Antonaci, Allan M. Glanzman, Elena S. Mazzone, Eugenio Mercuri, Basil T. Darras, Maria Carmela Pera, Darryl C. De Vivo, Amy Pasternak, Richard S. Finkel, Giorgia Coratti, Marika Pane, Janet Quigley
المصدر: Neuromuscular Disorders
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Hammersmith Infant Neurological Examination, Motor milestones, Outcome measures, Spinal muscular atrophy, Pediatrics, Perinatology and Child Health, Neurology, Neurology (clinical), Genetics (clinical), Clinical Neurology, Neurological examination, Spinal Muscular Atrophies of Childhood, Sitting, Settore MED/03 - GENETICA MEDICA, Pediatrics, Article, 03 medical and health sciences, Child Development, 0302 clinical medicine, medicine, Milestone (project management), Humans, Genetics(clinical), Longitudinal Studies, Pediatrics, Perinatology, and Child Health, Retrospective Studies, Neurologic Examination, Type I Spinal Muscular Atrophy, medicine.diagnostic_test, business.industry, Infant, Perinatology and Child Health, medicine.disease, SMA, Natural history, Settore MED/26 - NEUROLOGIA, 030104 developmental biology, Motor Skills, Child, Preschool, Developmental Milestone, Disease Progression, Physical therapy, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e7714d095011ab42d85620d4e5d2d78Test
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46
المؤلفون: S. Messina, Eugenio Mercuri, Nicola Forcina, Marika Pane, Roberto De Sanctis, Giorgia Coratti, Sara Carnicella, E. Mazzone, Lavinia Fanelli, Maria Carmela Pera, Simona Lucibello, Laura Antonaci, Giulia Norcia, Anna Lia Frongia
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Spinal, Scoliosis, Spinal Muscular Atrophies of Childhood, Article, Time, Muscular Atrophy, Spinal, Cohort Studies, Young Adult, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, medicine, Humans, Young adult, Child, Preschool, Retrospective Studies, business.industry, Child, Preschool, Female, Disease Progression, Retrospective cohort study, medicine.disease, SMA, Spinal muscular atrophy type II, Muscular Atrophy, Cohort, Observational study, Neurology (clinical), business, Cohort study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13be4f054486fee2d558d4181cef52c6Test
http://hdl.handle.net/10807/153741Test -
47
المؤلفون: Michela Catteruccia, Giuseppe Vita, Eugenio Mercuri, Chiara Bravetti, Beatrice Berti, Sonia Messina, Paola Tacchetti, Adele D'Amico, Valeria A. Sansone, Marco Piastra, Marina Pedemonte, Enrico Bertini, Claudio Bruno, Marika Pane, Roberto De Sanctis, Francesca Salmin, Giorgia Brigati, Maria Sframeli, Simona Lucibello, Giorgia Coratti, Emilio Albamonte, Francesco Danilo Tiziano, Orazio Genovese
مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Adolescent, DNA Copy Number Variations, Oligonucleotides, CHOP, Spinal Muscular Atrophies of Childhood, Settore MED/03 - GENETICA MEDICA, Severity of Illness Index, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Severity of illness, medicine, Humans, In patient, Child, spinal muscular atrophy, Type I Spinal Muscular Atrophy, business.industry, Infant, Spinal muscular atrophy, medicine.disease, Spinal muscular atrophy, nusinersen, CHOP INTEND, real world, Survival of Motor Neuron 2 Protein, Settore MED/26 - NEUROLOGIA, 030104 developmental biology, Treatment Outcome, Neurology, Child, Preschool, Cohort, Nusinersen, Female, Neurology (clinical), business, Real world data, 030217 neurology & neurosurgery, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09fe5a00f540abc0e7a2bf551663d35eTest
http://hdl.handle.net/11570/3142754Test -
48
المؤلفون: Sally Dunaway Young, Valeria A. Sansone, Matthew Civitello, Maria Carmela Pera, Giorgia Coratti, Amy Pasternack, Susan A. Hall, Rachel Salazar, Eugenio Mercuri, Laura Antonaci, Claudio Bruno, Jacqueline Montes, Mariacristina Scoto, Emilio Albamonte, Susan Eaton, Concetta Palermo, Salma Samsuddin, Adele D'Amico, Tina Duong, Roberto De Sanctis, Basil T. Darras, Annalia Frongia, Francesco Muntoni, Aisha Rashid, Richard S. Finkel, Enrico Bertini, Darryl C. De Vivo, Maria Sframeli, Allan Glanzmann, Giuseppe Vita, Beatrice Berti, Sonia Messina, Julia Balashkina, John W. Day, Daniela Leone, Marika Pane
مصطلحات موضوعية: 0301 basic medicine, Spinal, Muscular Atrophy, Spinal, 03 medical and health sciences, 0302 clinical medicine, Disease registry, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Humans, Prospective Studies, Registries, Genetics (clinical), Final version, Medical education, Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, Research, Neuromuscular disorders, Spinal muscular atrophy, Data dictionary, United Kingdom, Identification (information), Muscular Atrophy, Settore MED/26 - NEUROLOGIA, 030104 developmental biology, Neurology, Italy, General partnership, New disease, Pediatrics, Perinatology and Child Health, Cohort, Neurology (clinical), Business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82cec70572d78f4eea3195e9db7ac087Test
http://hdl.handle.net/10807/215447Test -
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المؤلفون: Domenico M. Romeo, Eugenio Mercuri, Roberto De Sanctis, Claudia Brogna, Valentina Milano, Giuseppe Rovere, Barbara Brogna, Lara Cristiano, Giuseppe Zampino
المصدر: Brain Sciences
Brain Sciences, Vol 11, Iss 21, p 21 (2021)مصطلحات موضوعية: Pathology, medicine.medical_specialty, Case Report, lcsh:RC321-571, Leukoencephalopathy, 03 medical and health sciences, Epilepsy, Dysgenesis, 0302 clinical medicine, Holoprosencephaly, partial trisomy 13q, medicine, ischemic and haemorrhagic cerebral lesions, hemiparesis, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, 030304 developmental biology, 0303 health sciences, business.industry, General Neuroscience, medicine.disease, Hypoplasia, Hemiparesis, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, epilepsy, medicine.symptom, business, Trisomy, 030217 neurology & neurosurgery, Cerebral vasculitis
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a402a1cdb7941d444a17ef63d8c4731Test
https://doi.org/10.3390/brainsci11010021Test -
50دورية أكاديمية
المؤلفون: Thangarajh, Mathula, Elfring, Gary L., Trifillis, Panayiota, McIntosh, Joseph, Peltz, Stuart W, Monique M Ryan, Andrew J Kornberg, Victoria Rodriguez Casero, Alison Wray, Kristi J Jones, Kathryn North, Nathalie Goemans, Gunnar Marceo Buyse, Craig Campbell, Jean Mah, Harvey Sarnat, Kathryn Selby, Thomas Voit, Valerie Doppler, Denis De Castro, Brigitte Chabrol, Nicolas Levy, Cecile Halbert, Yann Pereon, Armelle Magot, Julie Perrier, Jean-Yves Mahe, Ulrike Schara, Soren Lutz, Melanie Busse, Adela Della Marina, Janbernd Kirschner, Angela Stanescu, Annette Pohl, Cornelia RensingZimmerman, Enrico Bertini, Adele D'Amico, Annamaria Kofler, Adelina Carlesi, Anna Maria Bonetti, Luigino Santecchia, Francesco Emma, Gianluca Bergami, Eugenio Maria Mercuri, Gessica Vasco, Flaviana Bianco, Elena Stacy Mazzone, Roberto De Sanctis, Paolo Alfieri, Marika Pane, Sonia Messina, Giacomo Pietro Comi, Francesca Magri, Valeria Lucchini, Stefania Paola Corti, Maurizio Gualtiero Moggio, Monica Sciacco, Nereo Bresolin, Alessandro Cesare Prelle, Roberta Magri, Roberta Virgilio, Costanza Lamperti, Yoram Nevo, Taia DorWollman, Juan Vilchez, Nuria Muelas, Teresa Sevilla, Patricia Smeyers, Alberto de la Osa, Jaume Colomer, Carlos Ignacio Ortez, Andres Nascimento, Ana Febrer, Julita Medina, Mar Tulinus, Brynja Thorarinsdottir, Niklas Darin, Thomas Sejersen, Mia Hovmoller, Katherine Bushby, Volker Straub, Michela Guglieri, Anna Sarkozy, Tracey Willis, Michelle Eagle, Anna Mayhew, Francesco Muntoni, Sebahattin Cirak, Adnan Yousaf Manzur, Stephanie Ann Robb, Maria Kinali, Rosaline Christina Mary Quinlivan, Martin Richard Smith, Rajesh Pandey, Brenda Wong, James Collins, Richard Finkel, Cartsen Bonnemann, Michele Yang, Aileen Reghan Foley, Sabrina Yum, Jacinda Sampson, Mark Bromberg, Kathryn Swoboda, John Day, Peter Karachunski, Katherine Mathews, Daniel Bonthius, Karla Sue Laubenthal, Basil Darras, Peter Kang, Julie Parson, Richard Barohn, Majed Dasouki, Heather Anderson, Jeffrey Burns, Mazen Dimachkie, Mamatha Pasnoor, Yunxia Wang, Emma Ciafaloni, Chad Heatwole, Anne Connolly, Alan Pestronk, Muhammad Al-Lozi, Glenn Lopate, Paul Golumbek, Brian Sommerville, Leo Wang, Anna Wojcicka-Mitchell, Andrew Godbey, Matthew Harms, Arun Varadachary, Stanley Iyadurai, Luisa Rojas, Susan Iannacone, Chaiyos Khonghatithum, Douglas Sproule, Darryl De Vivo, Andre Constantinescu, Craig McDonald, Jay Han, Ben Renfroe, Barry Russman, Michael Sussman, Stephanie BurnsWechsler, Vern Juel, Lisa Hobson-Webb, Edward Smith
المساهمون: Mathula, Thangarajh, Gary L., Elfring, Panayiota, Trifilli, Joseph, Mcintosh, Peltz, W, Stuart, M Ryan, Monique, J Kornberg, Andrew, Rodriguez Casero, Victoria, Wray, Alison, J Jones, Kristi, North, Kathryn, Goemans, Nathalie, Marceo Buyse, Gunnar, Campbell, Craig, Mah, Jean, Sarnat, Harvey, Selby, Kathryn, Voit, Thoma, Doppler, Valerie, De Castro, Deni, Chabrol, Brigitte, Levy, Nicola, Halbert, Cecile, Pereon, Yann, Magot, Armelle, Perrier, Julie, Mahe, Jean-Yve, Schara, Ulrike, Lutz, Soren, Busse, Melanie, Della Marina, Adela, Kirschner, Janbernd, Stanescu, Angela, Pohl, Annette, Rensingzimmerman, Cornelia, Bertini, Enrico, D'Amico, Adele, Kofler, Annamaria, Carlesi, Adelina, Maria Bonetti, Anna, Santecchia, Luigino, Emma, Francesco, Bergami, Gianluca, Maria Mercuri, Eugenio, Vasco, Gessica, Bianco, Flaviana, Stacy Mazzone, Elena, De Sanctis, Roberto, Alfieri, Paolo, Pane, Marika, Messina, Sonia, Pietro Comi, Giacomo, Magri, Francesca, Lucchini, Valeria, Paola Corti, Stefania, Gualtiero Moggio, Maurizio, Sciacco, Monica, Bresolin, Nereo, Cesare Prelle, Alessandro, Magri, Roberta, Virgilio, Roberta, Lamperti, Costanza, Nevo, Yoram, Dorwollman, Taia, Vilchez, Juan, Muelas, Nuria, Sevilla, Teresa, Smeyers, Patricia, de la Osa, Alberto, Colomer, Jaume, Ignacio Ortez, Carlo, Nascimento, Andre, Febrer, Ana, Medina, Julita, Tulinus, Mar, Thorarinsdottir, Brynja, Darin, Nikla, Sejersen, Thoma, Hovmoller, Mia, Bushby, Katherine, Straub, Volker, Guglieri, Michela, Sarkozy, Anna, Willis, Tracey, Eagle, Michelle, Mayhew, Anna, Muntoni, Francesco, Cirak, Sebahattin, Yousaf Manzur, Adnan, Ann Robb, Stephanie, Kinali, Maria, Christina Mary Quinlivan, Rosaline, Richard Smith, Martin, Pandey, Rajesh, Wong, Brenda, Collins, Jame, Finkel, Richard, Bonnemann, Cartsen, Yang, Michele
مصطلحات موضوعية: Neurology (clinical)
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30135256; info:eu-repo/semantics/altIdentifier/wos/WOS:000452496600002; volume:91; issue:13; firstpage:e1215; lastpage:e1219; numberofpages:5; journal:NEUROLOGY; http://hdl.handle.net/11570/3134770Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85054074588