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: Jean-François Desaphy, Sabrina Lucchiari, Adele D'Amico, Diana Conte Camerino, Anna Modoni, Paola Imbrici, Julien Roussel, Serena Pagliarani, Mauro Lo Monaco, Roberta Carbonara

المصدر: Neurology

مصطلحات موضوعية: Myotonia Congenita, Mutant, Mexiletine, Pharmacology, Article, Cell Line, Diagnosis, Differential, Translational Research, Biomedical, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, medicine, Humans, Myotonia permanens, NAV1.4 Voltage-Gated Sodium Channel, Precision Medicine, Voltage-Gated Sodium Channel Blockers, Child, Flecainide, Myotonia congenita, business.industry, medicine.disease, Myotonia, Phenotype, Pharmacogenomic Testing, Mutation, Female, Neurology (clinical), business, 030217 neurology & neurosurgery, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f21e25c6ef544e7eafc611688e253c65Test
https://doi.org/10.1212/wnl.0000000000002721Test

المؤلفون: Stefania Petrini, Chiara Favero, Marina Mora, Lorenzo Peverelli, Luisa Villa, Adele D'Amico, Giacomo P. Comi, Tiziana Mongini, Francesca Magri, Maurizio Moggio, M. Sciacco, Enrico Bertini, Silvia Testolin, Lucia Morandi

المصدر: Neurology. 85:1886-1893

مصطلحات موضوعية: Male, Muscle tissue, medicine.medical_specialty, Pathology, Intraclass correlation, Biopsy, Duchenne muscular dystrophy, Urology, Connective tissue, Article, Humans, Medicine, Muscle Strength, Muscular dystrophy, Child, Muscle, Skeletal, Retrospective Studies, medicine.diagnostic_test, business.industry, Infant, Retrospective cohort study, medicine.disease, Muscular Dystrophy, Duchenne, Clinical trial, Cross-Sectional Studies, Treatment Outcome, medicine.anatomical_structure, Child, Preschool, Steroids, Neurology (clinical), business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c06c5b2e08b0771fc4dd28af9000c324Test
https://doi.org/10.1212/wnl.0000000000002147Test

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: Adele D'Amico, Stefania Petrini, F. De Benedetti, L. De Pasquale, Margherita Verardo, Enrico Bertini

المصدر: Neurology. 78:1309-1314

مصطلحات موضوعية: musculoskeletal diseases, medicine.medical_specialty, Biopsy, Duchenne muscular dystrophy, Biology, Proinflammatory cytokine, Inflammatory myopathy, Reference Values, Internal medicine, medicine, Humans, Muscular dystrophy, Child, Muscle, Skeletal, Chemokine CCL2, Juvenile dermatomyositis, Muscle biopsy, medicine.diagnostic_test, Interleukin-6, Tumor Necrosis Factor-alpha, Interleukin-17, Interleukin, Forkhead Transcription Factors, Articles, medicine.disease, Up-Regulation, Muscular Dystrophy, Duchenne, Endocrinology, Child, Preschool, Immunology, Neurology (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21941796c4849483d2c39c7496b86bb0Test
https://doi.org/10.1212/wnl.0b013e3182518302Test

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: Sara Benedetti, Maurizio Ferrari, Isabella Mammi, M. Olivè, Isabella Moroni, Laura Palmucci, Angela Berardinelli, Stefano C. Previtali, I. Menditto, Adele D'Amico, Carmelo Rodolico, Giuliana Galluzzi, G. Comi, Enrico Bertini, Carlo P. Trevisan, Raffaella Fazio, Massimo Degano, Elena Pegoraro, Luciano Merlini, Angelo Quattrini, Francesca Mari, R. Caldara, Gisèle Bonne, Paola Carrera, A. Toscano, D. Toniolo, Lucia Morandi

المساهمون: Benedetti, S, Menditto, I, Degano, M, Rodolico, C, Merlini, L, D'Amico, A, Palmucci, L, Berardinelli, A, Pegoraro, E, Trevisan, Cp, Morandi, L, Moroni, I, Galluzzi, G, Bertini, E, Toscano, A, Olive, M, Bonne, G, Mari, F, Caldara, R, Fazio, R, Mammi, I, Carrera, P, Toniolo, D, Comi, Giancarlo, Quattrini, A, Ferrari, Maurizio, Previtali, Sc

المصدر: Università degli Studi di Siena-IRIS

مصطلحات موضوعية: Adult, Genetic Markers, Heart Diseases, DNA Mutational Analysis, Mutation, Missense, lamin A/C, neuromuscular disorders, LMNA gene, Biology, medicine.disease_cause, Frameshift mutation, LMNA, Cohort Studies, medicine, Missense mutation, Cluster Analysis, Humans, Genetic Predisposition to Disease, Age of Onset, Myopathy, Child, Frameshift Mutation, Muscle, Skeletal, Loss function, Genetics, Mutation, Myocardium, Neuromuscular Diseases, Lamin Type A, Lamins, Phenotype, Haplotypes, Child, Preschool, Disease Progression, Neurology (clinical), Age of onset, medicine.symptom, Haploinsufficiency

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d1af3c1d5f623499743501b0e31d4beTest
https://pubmed.ncbi.nlm.nih.gov/17377071Test

المؤلفون: Filippo M. Santorelli, Andrea Sabino, Enrico Bertini, Alessandra Tessa, Adele D'Amico, Serenella Servidei

المصدر: ResearcherID

مصطلحات موضوعية: Proband, Atlastin, Adult, Male, Spastic gait, Heterozygote, DNA Mutational Analysis, Mutation, Missense, Penetrance, Biology, Genetic analysis, GTP Phosphohydrolases, Genetic Heterogeneity, GTP-Binding Proteins, medicine, HSP, Humans, Point Mutation, Gene, Genes, Dominant, Genetics, Spastic Paraplegia, Hereditary, Membrane Proteins, Exons, medicine.disease, Pedigree, Settore MED/26 - NEUROLOGIA, Amino Acid Substitution, Italy, New mutation, Autosomal Dominant Hereditary Spastic Paraplegia, Female, Neurology (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d39aedc0660fc81d15b5428dd99cbc9eTest
https://pubmed.ncbi.nlm.nih.gov/15184642Test

المؤلفون: Serenella Servidei, Adele D'Amico, P.A. Tonali, Massimiliano Mirabella, S. Di Giovanni

المصدر: Neurology. 55(6)

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Proteases, genetic structures, Apoptosis, Neurological disorder, Quadriplegia, Pathogenesis, Atrophy, Muscular Diseases, Myosin, Biopsy, medicine, Myocyte, Humans, Myopathy, Aged, Aged, 80 and over, medicine.diagnostic_test, business.industry, Muscles, medicine.disease, Microscopy, Electron, Acute Disease, Neurology (clinical), medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa1395439405b5e7a4e65390e5042cb4Test
https://pubmed.ncbi.nlm.nih.gov/11320202Test

المؤلفون: P. Tonali, Massimiliano Mirabella, Adele D'Amico, Gabriella Silvestri, Serenella Servidei, Enzo Ricci, Aldobrando Broccolini, Andrea Sabino, Mario Pescatori

المصدر: Scopus-Elsevier

مصطلحات موضوعية: Genetics, Mutation, Muscle biopsy, medicine.diagnostic_test, Genes, Recessive, Biology, Compound heterozygosity, medicine.disease, medicine.disease_cause, Genetic determinism, Sialic acid, GNE, Settore MED/26 - NEUROLOGIA, chemistry.chemical_compound, Atrophy, chemistry, medicine, Humans, Neurology (clinical), medicine.symptom, Muscle, Skeletal, Myopathy, Gene

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec4da4c61011d37a421cba3b70a4c478Test
https://doi.org/10.1212/01.wnl.0000031808.04545.e0Test