المؤلفون: Anne-Marie Childs, Robert Muni Lofra, Min Ong, Eugenio Mercuri, Chiara Marini-Bettolo, Richard S. Finkel, Giorgia Coratti, Federica Trucco, Elizabeth A. Kichula, Adele D'Amico, Valeria A. Sansone, Francesco Muntoni, Mariacristina Scoto, Aledie A. Navas Nazario, Tracey Willis, Darryl C. De Vivo, Marika Pane, J. Day, Marion Main, Vasantha Gowda, Oscar H. Mayer, Claudio Bruno, A. Mayhew, Deepak Parasuraman, Emilio Albamonte, Sonia Messina, Jacqueline Montes, Basil T. Darras, Deborah Ridout, Enrico Bertini

المصدر: Neurology
article-version (Version of Record) 3

مصطلحات موضوعية: Male, Vital capacity, medicine.medical_specialty, Internationality, Adolescent, Settore MED/10 - MALATTIE DELL'APPARATO RESPIRATORIO, Scoliosis, Spinal Muscular Atrophies of Childhood, Article, Cohort Studies, 03 medical and health sciences, FEV1/FVC ratio, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, 0302 clinical medicine, Internal medicine, Humans, Medicine, Respiratory function, Child, Retrospective Studies, Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, business.industry, Retrospective cohort study, Respiration Disorders, SMA, medicine.disease, 030228 respiratory system, Female, Nusinersen, Neurology (clinical), business, 030217 neurology & neurosurgery, Follow-Up Studies, Cohort study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eca983988c6c9fb647b81bac43f2cb61Test
https://doi.org/10.1212/wnl.0000000000011051Test

المؤلفون: Thangarajh, M, Elfring, GL, Trifillis, P, McIntosh, J, Peitz, SW, Ryan, MM, Kornberg, AJ, RodriguezCasero, V, Wray, A, Jones, KJ, North, K, Goemans, N, Buyse, GM, Campbell, C, Mah, J, Sarnat, H, Selby, K, Voit, T, Doppler, V, De Castro, D, Chabrol, B, Levy, N, Halbert, C, Pereon, Y, Magot, A, Perrier, J, Mahe, JY, Schara, U, Lutz, S, Busse, M, Della Marina, A, Kirschner, J, Stanescu, A, Pohl, A, RensingZimmerman, C, Bertini, E, D'Amico, A, Kofler, A, Carlesi, A, Bonetti, AM, Santecchia, L, Emma, F, Bergami, G, Mercuri, EM, Vasco, G, Bianco, F, Mazzone, ES, De Sanctis, R, Alfieri, P, Pane, M, Messina, S, Comi, GP, Magri, F, Lucchini, V, Corti, SP, Moggio, MG, Sciacco, M, Bresolin, N, Prelle, AC, Magri, R, Virgilio, R, Lamperti, C, Nevo, Y, DorWollman, T, Vilchez, J, Muelas, N, Sevilla, T, Smeyers, P, de la Osa, A, Colomer, J, Ortez, CI, Nascimento, A, Febrer, A, Medina, J, Tulinus, M, Thorarinsdottir, B, Darin, N, Sejersen, T, Hovmoller, M, Bushby, K, Straub, V, Guglieri, M, Sarkozy, A, Willis, T, Eagle, M, Mayhew, A, Muntoni, F, Cirak, S, Manzur, AY, Robb, SA, Kinali, M, Quinlivan, RCM, Smith, MR, Pandey, R, Wong, B, Collins, J, Finkel, R, Bonnemann, C, Yang, M, Foley, AR, Yum, S, Sampson, J, Bromberg, M, Swoboda, K, Day, J, Karachunski, P, Mathews, K, Bonthius, D, Laubenthal, KS, Darras, B, Kang, P, Parson, J, Barohn, R, Dasouki, M, Anderson, H, Burns, J, Dimachkie, M, Pasnoor, M, Wang, YX, Ciafaloni, E, Heatwole, C, Connolly, A, Pestronk, A, Al-Lozi, M, Lopate, G, Golumbek, P, Sommerville, B, Wang, L, Wojcicka-Mitchell, A, Godbey, A, Harms, M, Varadachary, A, Iyadurai, S, Rojas, L, Iannacone, S, Khonghatithum, C, Sproule, D, De Vivo, D, Constantinescu, A, McDonald, C, Han, J, Ben Renfroe, Russman, B, Sussman, M, BurnsWechsler, S, Juel, V, Hobson-Webb, L, Smith, E, Ataluren Phase 2b Study Grp

المساهمون: Schara, Ulrike (Beitragende*r), Marina, Adela Della (Beitragende*r)

المصدر: Neurology
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname

مصطلحات موضوعية: Male, 0301 basic medicine, Adolescent, Duchenne muscular dystrophy, Nonsense mutation, Medizin, Neuropsychological Tests, 030105 genetics & heredity, Article, Young Adult, 03 medical and health sciences, Exon, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, 0302 clinical medicine, Genotype, Memory span, medicine, Humans, Child, Genetics, biology, Promoter, Duchenne, medicine.disease, Muscular Dystrophy, Duchenne, Cross-Sectional Studies, Memory, Short-Term, Codon, Nonsense, Child, Preschool, Mutation (genetic algorithm), biology.protein, Neurology (clinical), Dystrophin, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9c9c74216e66383cd737eb4c0124148Test
https://doi.org/10.1212/wnl.0000000000006245Test

المؤلفون: Antonella Pini, Enzo Ricci, Marika Pane, Denise Cassandrini, Salvatore Messina, Carla Uggetti, Raffaele Pezzani, E. Mottarelli, Gaetano Tortorella, A. Toscano, Giacomo P. Comi, A. M. Laverda, Mongini T, Carlo Minetti, Laura Morandi, Marina Mora, Antonello Ruggieri, Enrico Bertini, Simona Saredi, Gessica Vasco, Isabella Moroni, Cristina Bruno, Eugenio Mercuri, Anna D'amico, P. Boffi, Carmela Scuderi, Angela Berardinelli, Maurizio Moggio, Roberta Biancheri, Filippo M. Santorelli, Carlo P. Trevisan, Chiara Aiello, Elena Pegoraro, Alessandra Tessa, Anna Pichiecchio

المصدر: Neurology. 93(8)

مصطلحات موضوعية: Pathology, Glycosylation, Bioinformatics, Compound heterozygosity, medicine.disease_cause, Mannosyltransferases, Muscular Dystrophies, WALKER-WARBURG-SYNDROME, Cohort Studies, chemistry.chemical_compound, Prevalence, Muscular dystrophy, Child, Dystroglycans, Genetics, Mutation, medicine.diagnostic_test, biology, Brain, Magnetic Resonance Imaging, Phenotype, Italy, Child, Preschool, FUKUTIN GENE-MUTATIONS, PROTEIN GENE, Population study, Female, CLINICAL SPECTRUM, ALPHA-DYSTROGLYCAN, medicine.medical_specialty, Adolescent, EYE-BRAIN DISEASE, N-Acetylglucosaminyltransferases, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, medicine, Dystroglycan, Humans, ABNORMAL GLYCOSYLATION, Pentosyltransferases, Muscle, Skeletal, POMT2 MUTATIONS, Muscle biopsy, business.industry, Glycosyltransferases, Infant, Membrane Proteins, Proteins, Regret, medicine.disease, Fukutin, chemistry, POMGNT1 MUTATIONS, biology.protein, Neurology (clinical), business, MENTAL-RETARDATION

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e75a57bbafa5ff8e2973a4b552718ec0Test
https://pubmed.ncbi.nlm.nih.gov/19299310Test

المؤلفون: Ruggero Capra, Andrea Falini, Pierangelo Veggiotti, Agnese Fiorino, Lucia Moiola, Elisabetta Pagani, Ermelinda De Meo, Giancarlo Comi, Maria Pia Amato, Maria A. Rocca, Lorena Pippolo, Massimo Filippi, Maria Carmela Pera, Angelo Ghezzi

المساهمون: De Meo, Ermelinda, Moiola, Lucia, Ghezzi, Angelo, Veggiotti, Pierangelo, Capra, Ruggero, Amato, Maria Pia, Pagani, Elisabetta, Fiorino, Agnese, Pippolo, Lorena, Pera, Maria C, Comi, Giancarlo, Falini, Andrea, Filippi, Massimo, Rocca, Maria A.

المصدر: Neurology. 89:1265-1273

مصطلحات موضوعية: Male, medicine.medical_specialty, Pediatrics, Multiple Sclerosis, Neurology, Adolescent, Audiology, Gyrus Cinguli, 050105 experimental psychology, White matter, 03 medical and health sciences, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, 0302 clinical medicine, Thalamus, Cerebellum, medicine, Humans, Attention, Cognitive Dysfunction, 0501 psychology and cognitive sciences, Child, Anterior cingulate cortex, Cerebral Cortex, medicine.diagnostic_test, business.industry, Multiple sclerosis, 05 social sciences, Neuropsychology, Magnetic resonance imaging, MS, medicine.disease, Magnetic Resonance Imaging, White Matter, Settore MED/37 - NEURORADIOLOGIA, Diffusion Tensor Imaging, medicine.anatomical_structure, Cerebral cortex, Female, Neurology (clinical), business, Psychomotor Performance, 030217 neurology & neurosurgery, MRI, Diffusion MRI

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::953333eeb5ee369d3a29df85cdc563d8Test
https://doi.org/10.1212/wnl.0000000000004388Test

المؤلفون: P Boffi, Corrado Angelini, Luisa Politano, Guja Astrea, Eugenio Mercuri, Adele D'Amico, Tiziana Mongini, Marika Pane, Alessandra Ferlini, Giuseppe Vita, Sara Napolitano, Mario Ermani, Yvan Torrente, Francesca Gualandi, Antonella Taglia, Gaetano S. Grieco, Gian Luca Vita, Gianni Sorarù, Eric P. Hoffman, Angela Berardinelli, Andrea Barp, Esther Picillo, Gessica Vasco, Claudio Bruno, Roberta Battini, Stefano C. Previtali, Enrico Bertini, Giacomo P. Comi, Francesca Magri, Sonia Messina, Luca Bello, Luisa Piva, Maria Chiara Motta, Maria Sframeli, Carlo Minetti, Elisabetta Gazzerro, Elena Pegoraro

المساهمون: Bello, L, Piva, L, Barp, A, Taglia, A, Picillo, E, Vasco, G, Pane, M, Previtali, Sc, Torrente, Y, Gazzerro, E, Motta, Mc, Grieco, G, Napolitano, S, Magri, F, D'Amico, A, Astrea, G, Messina, S, Sframeli, M, Vita, Gl, Boffi, P, Mongini, T, Ferlini, A, Gualandi, F, Soraru', G, Ermani, M, Vita, G, Battini, R, Bertini, E, Comi, Gp, Berardinelli, A, Minetti, C, Bruno, C, Mercuri, E, Politano, Luisa, Angelini, C, Hoffman, Ep, Pegoraro, E.

المصدر: ResearcherID

مصطلحات موضوعية: Adult, medicine.medical_specialty, Adolescent, Duchenne muscular dystrophy, Single-nucleotide polymorphism, Polymorphism, Single Nucleotide, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Internal medicine, Genotype, medicine, Humans, Multicenter Studies as Topic, Longitudinal Studies, Muscular Dystrophy, Polymorphism, Child, Preschool, Retrospective Studies, Clinical Trials as Topic, business.industry, Genetic Variation, Retrospective cohort study, Articles, Single Nucleotide, Duchenne, medicine.disease, Muscular Dystrophy, Duchenne, Clinical trial, Child, Preschool, Ambulatory, Cohort, Physical therapy, Osteopontin, Neurology (clinical), business, Student's t-test

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ce9cff598fef0b6afe037a33f043f14Test
https://doi.org/10.1212/wnl.0b013e31825f04eaTest

المؤلفون: Luisa Politano, Silvia Frosini, MP Sormani, Tiziana Mongini, Enrico Bertini, Adele D'Amico, Angela Berardinelli, Sara Napolitano, Roberta Battini, Eugenio Mercuri, Giacomo P. Comi, Maria Chiara Motta, Maria Benedetta Donati, Stefano C. Previtali, Marika Pane, Serena Gasperini, Flaviana Bianco, Fabio Cavallaro, Luca Doglio, Gianluca Vita, Sonia Messina, Elena Pegoraro, Danilo Martinelli, Angela Sacco, Gessica Vasco, M Scutifero, Luca Bello, Yvan Torrente, Francesca Rossi, E. Zucchini, Cristina Bruno, Elena S. Mazzone, Antonella Pini, R. De Sanctis, S Bonfiglio

المساهمون: Mazzone, E, Vasco, G, Sormani, Mp, Torrente, Y, Berardinelli, A, Messina, S, D’Amico, A, Doglio, L, Politano, L, Cavallaro, F, Frosini, S, Bello, L, Bonfiglio, S, Zucchini, E, De Sanctis, R, Scutifero, M, Bianco, F, Rossi, F, Motta, Mc, Sacco, A, Donati, Ma, Mongini, T, Pini, A, Battini, R, Pegoraro, E, Pane, M, Gasperini, S, Previtali, S, Napolitano, S, Martinelli, D, Bruno, C, Vita, G, Comi, Giancarlo, Bertini, E, Mercuri, E.

المصدر: ResearcherID

مصطلحات موضوعية: Male, medicine.medical_specialty, Pediatrics, Adolescent, Cross-sectional study, Prednisolone, Duchenne muscular dystrophy, Statistics as Topic, Anti-Inflammatory Agents, Walking, Severity of Illness Index, Cohort Studies, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Pregnenediones, Severity of illness, medicine, Humans, Muscular Dystrophy, Muscular dystrophy, Child, Preschool, business.industry, Reproducibility of Results, drug therapy/physiopathology, Duchenne, medicine.disease, Muscular Dystrophy, Duchenne, Clinical trial, Cross-Sectional Studies, therapeutic use, Child, Preschool, physiology, Ambulatory, Cohort, Disease Progression, Physical therapy, Female, Neurology (clinical), business, Adolescent, Anti-Inflammatory Agents, therapeutic use, Child, Child, Preschool, Cohort Studies, Cross-Sectional Studies, Disease Progression, Female, Humans, Male, Muscular Dystrophy, drug therapy/physiopathology, Prednisolone, therapeutic use, Pregnenediones, therapeutic use, Reproducibility of Results, Severity of Illness Index, Statistics as Topic, Walking, Cohort study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::710f2b043320c6af61739f6400b1a4b9Test
https://doi.org/10.1212/wnl.0b013e318225ab2eTest

المؤلفون: Mark A. Horsfield, Lucia Moiola, Emilio Portaccio, Lorena Pippolo, Andrea Falini, Maria Carmela Pera, Maria A. Rocca, Pierangelo Veggiotti, Angelo Ghezzi, Ruggero Capra, Maria Pia Amato, M. Absinta, Giancarlo Comi, Massimo Filippi, Agnese Fiorino

المساهمون: Rocca, Ma, Absinta, M, Amato, Mp, Moiola, L, Ghezzi, A, Veggiotti, P, Capra, R, Portaccio, E, Fiorino, A, Pippolo, L, Pera, Mc, Horsfield, Ma, Falini, Andrea, Comi, Giancarlo, Filippi, Massimo

المصدر: Neurology. 82(15)

مصطلحات موضوعية: Male, medicine.medical_specialty, Multiple Sclerosis, Adolescent, Precuneus, Neuroimaging, Neuropsychological Tests, Corpus callosum, Brain mapping, Nerve Fibers, Myelinated, White matter, Nerve Fibers, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Internal medicine, medicine, Humans, Child, Default mode network, Anterior cingulate cortex, Brain Mapping, business.industry, Multiple sclerosis, Neuropsychology, Brain, medicine.disease, Magnetic Resonance Imaging, Settore MED/37 - NEURORADIOLOGIA, Settore MED/26 - NEUROLOGIA, medicine.anatomical_structure, Cardiology, Myelinated, Female, Neurology (clinical), Atrophy, business, Cognition Disorders

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97904e2d1447cbc88ab64620727ab086Test
https://pubmed.ncbi.nlm.nih.gov/24647027Test

المؤلفون: Maria Cristina Roberti, Raffaella Cusmai, Romina Moavero, Federico Vigevano, Paolo Curatolo

المصدر: Neurology. 80(5)

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, media_common.quotation_subject, Congenital microcephaly, Normal pregnancy, Retina, Café au lait spot, medicine, Personal history, Humans, Girl, Child, Preschool, media_common, Cafe-au-Lait Spots, Child, Preschool, Cognition Disorders, Electroencephalography, Female, Microcephaly, Nocturnal Myoclonus Syndrome, business.industry, Clinical reasoning, Sleep in non-human animals, Settore MED/39 - Neuropsichiatria Infantile, Neurology (clinical), medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25dcb90d44e2d250b0893ed96c9e3480Test
https://pubmed.ncbi.nlm.nih.gov/23359376Test

المؤلفون: Marika Pane, Francesco Muntoni, Eugenio Mercuri, Sebahattin Cirak, Helen Roper, Marion Main, Lucy Feng, K. Bushby, R. Mein, Michael G. Hanna, Cheryl Longman, Mariacristina Scoto, Anne-Marie Childs, David P.H. Jones, Stephanie A. Robb, Caroline Sewry, S Abbs, Ros Quinlivan, Adnan Y. Manzur, Gabriel Chow

المصدر: Neurology. 76(24)

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Population, Muscle Proteins, Scoliosis, Severity of Illness Index, Cohort Studies, Young Adult, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Muscular Diseases, Severity of illness, medicine, Humans, Respiratory function, Young adult, education, Child, Selenoproteins, Genetic Association Studies, education.field_of_study, Selenoprotein N, business.industry, Infant, Middle Aged, medicine.disease, Cross-Sectional Studies, Respiratory failure, Child, Preschool, Mutation, Female, Neurology (clinical), business, Cohort study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b909784758e0e95aac39074a59a593eTest
https://pubmed.ncbi.nlm.nih.gov/21670436Test

المؤلفون: Augusto Pasini, Alfonso Troisi, Gian Luigi Gigli, Marina Diomedi, M. G. Marciani

المصدر: Neurology. 47:303.1-303

مصطلحات موضوعية: Drug, Fluoxetine, Seizure frequency, medicine.diagnostic_test, business.industry, media_common.quotation_subject, medicine.medical_treatment, Electroencephalography, Humans, Seizures, Settore MED/39 - Neuropsichiatria Infantile, Anticonvulsant, Anesthesia, Daily seizures, medicine, In patient, Neurology (clinical), Treatment resistance, business, media_common, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9dcc71d405db903eeafb5a351fa818f2Test
https://doi.org/10.1212/wnl.47.1.303Test