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

المؤلفون: Domenico Albano, Andrea Barp, Eugenio Mercuri, Vito Chianca, Christian Lunetta, Francesca Salmin, Giacomo P. Comi, Emilio Albamonte, Elena Carraro, Luca Maria Sconfienza, Valeria A. Sansone, Carmelo Messina

المصدر: Journal of the Neurological Sciences

مصطلحات موضوعية: Adult, medicine.medical_specialty, Oligonucleotides, DTI, Diffusion Tensor Imaging, Spinal Muscular Atrophies of Childhood, Muscle MRI, Article, MRI, Magnetic Resonance Imaging, 03 medical and health sciences, 0302 clinical medicine, Nusinersen, Fractional anisotropy, Medicine, Humans, SMA, Spinal Muscular Atrophy, 030212 general & internal medicine, Muscle fibre, SMN1, Survival of Motor Neuron 1 gene, HFMSE, Hammersmith Function Motor Scale Expanded, Muscle mri, RULM, Revised Upper Limb Module, business.industry, FA, Fractional Anisotropy, Muscles, Spinal muscular atrophy, SMA, medicine.disease, MRC, Medical Research Council, Magnetic Resonance Imaging, medicine.anatomical_structure, Diffusion Tensor Imaging, Neurology, T1-weighted sequences, Upper limb, Neurology (clinical), Radiology, business, 030217 neurology & neurosurgery, Diffusion MRI, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a9ef3119d96237c614d54433936b0a0Test
http://europepmc.org/articles/PMC7388822Test

المؤلفون: Valeria A. Sansone, Marina Pedemonte, Roberto De Sanctis, Enrico Bertini, Claudio Bruno, Francesco Macagno, Michela Catteruccia, Eugenio Mercuri, Alessandra Di Bari, Fabrizio Rao, Adele D'Amico, Marika Pane, Renato Cutrera, Elisabetta Roma, Andrea Lizio, Sonia Messina, Emilio Albamonte, Giuseppe Vita, Alice Pirola, Marco Piastra, Carmela Maria Pera, Francesca Salmin, Maria Sframeli, Giorgia Coratti

المصدر: The Journal of Pediatrics. 219:223-228.e4

مصطلحات موضوعية: Male, Artificial ventilation, medicine.medical_specialty, medicine.medical_treatment, Oligonucleotides, Settore MED/10 - MALATTIE DELL'APPARATO RESPIRATORIO, Spinal Muscular Atrophies of Childhood, SMA1, Cohort Studies, 03 medical and health sciences, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, 0302 clinical medicine, respiratory function, 030225 pediatrics, Internal medicine, medicine, Humans, Respiratory function, Longitudinal Studies, 030212 general & internal medicine, Prospective cohort study, Noninvasive Ventilation, business.industry, Respiration, nusinersen, ventilation, Infant, Spinal muscular atrophy, medicine.disease, Settore MED/26 - NEUROLOGIA, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Pediatrics, Perinatology and Child Health, Cohort, Breathing, Female, Nusinersen, business, Cohort study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6cb505e3ae92c12af798a472d4b0fb68Test
https://doi.org/10.1016/j.jpeds.2019.12.047Test

المؤلفون: Haluk Topaloglu, Janbernd Kirschner, Richard S. Finkel, Wuh-Liang Hwu, Kathryn J. Swoboda, Francy Shu, Julie A. Parsons, Russell J. Butterfield, Darryl C. De Vivo, Thomas O. Crawford, Richard Foster, Nancy L. Kuntz, Wildon Farwell, Yuh-Jyh Jong, T. Ben Omran, Stephanie Fradette, Ishir Bhan, Valeria A. Sansone, Monique M. Ryan, E. Bertini

المصدر: Journal of the Neurological Sciences. 405:250

مصطلحات موضوعية: medicine.medical_specialty, Neurology, business.industry, Interim, medicine, Nusinersen, Neurology (clinical), Spinal muscular atrophy, Stage (cooking), medicine.disease, SMA, business, Surgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f3c5ff7e4c5814c1ec0cbc2f2410b2caTest
https://doi.org/10.1016/j.jns.2019.10.1276Test

المؤلفون: Giorgia Coratti, Marika Pane, Simona Lucibello, Sonia Messina, Michela Catteruccia, Maria Sframeli, Emilio Albamonte, Marina Pedemonte, Francesco Danilo Tiziano, Roberto De Sanctis, Eugenio Mercuri, Enrico Bertini, Concetta Palermo, Giuseppe Vita, Giorgia Brigati, Adele D'Amico, Claudio Bruno, Valeria A. Sansone

مصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, medicine.medical_specialty, Adolescent, Treatment duration, Oligonucleotides, Neurological examination, CHOP, Spinal Muscular Atrophies of Childhood, CHOP INTEND, Hammersmith Infant Neurological Examination, Nusinersen, Spinal Muscular Atrophy, Werdnig Hoffmann disease, Pediatrics, Perinatology and Child Health, Neurology, Neurology (clinical), Genetics (clinical), Motor function, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, medicine, Humans, SMA, Young adult, Child, Neurologic Examination, medicine.diagnostic_test, business.industry, Infant, Perinatology and Child Health, 030104 developmental biology, Treatment Outcome, Motor Skills, Child, Preschool, Female, business, 030217 neurology & neurosurgery, Werdnig-hoffmann disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7f169dbe7635d6c50876f67a0733c9bTest
http://hdl.handle.net/11570/3128391Test

المؤلفون: Emilia Bobeica, Cristina Ponzanelli, Paolo Stoia, Emilio Albamonte, Valeria A. Sansone, Fabrizio Rao, Claudio Bruno, Cristina Faraone, Danilo Tiziano, Valeria Cozzi, Marika Pane, Elisa De Mattia, Anna Maria Bonetti, Maria Sframeli, Marcello Villanova, Orazio Genovese, Anna Mandelli, Chiara Mastella, Marco Piastra, Sara Luppone, Francesca Penno, Adele D'Amico, Sonia Messina, Anna Ambrosini, Alessandro Pedicelli, Antonio Versaci, Stefania La Foresta, Luca Binetti, Alessia D'Agostino, Nicola Forcina, Giulia Colia, Elisa Falcier, Maria Macrì, Maurizio Heinen, Luca Mancini, Jacopo Casiraghi, Maria Beatrice Chiarini, Carlo Gandolfo, Concetta Palermo, Marta Ferretti, Maria Letizia Solinas, Giuseppe Vita, Imma Rulli, Giovanni Montobbio, Anita Pallara, Alice Pirola, Daniela Leone, Michela Catteruccia, Grazia Zappa, Renato Cutrera, Paola Tacchetti, Adelina Carlesi, Eloisa Gitto, Daniela Lauro, Alberto Fontana, Valentina Iurilli, Emma Mizzotti, Beatrice Travaglia, Enrico Bertini, Eugenio Mercuri, Fausto Fedeli, Marina Pedemonte, Roberto De Sanctis, Alberto Garaventa, Simona Spinoglio

مصطلحات موضوعية: 0301 basic medicine, MEDLINE, Oligonucleotides, Spinal Muscular Atrophies of Childhood, Pediatrics, 03 medical and health sciences, 0302 clinical medicine, Settore MED/41 - ANESTESIOLOGIA, Medicine, Humans, Genetics (clinical), Medical education, business.industry, Pediatrics, Perinatology and Child Health, Neurology, Neurology (clinical), Perinatology and Child Health, SMA, Survival of Motor Neuron 1 Protein, 030104 developmental biology, Italy, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Expanded access, Nusinersen, Expanded access program, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f8e96590fdb983f12a8b61d41c5e4edTest
http://hdl.handle.net/10807/118563Test