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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ce9cff598fef0b6afe037a33f043f14
https://doi.org/10.1212/wnl.0b013e31825f04ea

المؤلفون: Emanuela Leonardi, Gessica Smaniotto, Raffaele Pezzani, Adele D'Amico, Andrea Vianello, Luisa Piva, Silvio C. E. Tosatto, Bruno F. Gavassini, Luca Bello, Enrico Bertini, Arianna Palmieri, Annalaura Torella, Corrado Angelini, Elena Pegoraro, Paola Melacini, Vincenzo Nigro, Gianni Sorarù

المساهمون: Bello, L, Melacini, P, Pezzani, R, D'Amico, A, Piva, L, Leonardi, E, Torella, A, Soraru, G, Palmieri, A, Smaniotto, G, Gavassini, Bf, Vianello, A, Nigro, Vincenzo, Bertini, E, Angelini, C, Tosatto, Sc, Pegoraro, E.

المصدر: European Journal of Human Genetics. 20:1234-1239

مصطلحات موضوعية: Adult, Male, Heterozygote, Protein Folding, Microcephaly, Pathology, medicine.medical_specialty, Adolescent, Molecular Sequence Data, Cardiomyopathy, Biology, Compound heterozygosity, Mannosyltransferases, Muscular Dystrophies, Article, Intellectual Disability, Genetics, medicine, Humans, Amino Acid Sequence, Muscular dystrophy, Dystroglycans, Genetics (clinical), fungi, Heterozygote advantage, Syndrome, medicine.disease, Myocardial Contraction, Phenotype, Muscular Dystrophies, Limb-Girdle, Mutation, Congenital muscular dystrophy, Cardiomyopathies, Limb-girdle muscular dystrophy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::131205e46eb8f2a298de58b0f3572d63
https://doi.org/10.1038/ejhg.2012.71

المؤلفون: Gianni Sorarù, Luca Bello, Corrado Angelini, Gerolamo Lanfranchi, A. Kesari, Joseph M. Devaney, Luisa Piva, Beniamina Pacchioni, Stefano Cagnin, Heather Gordish-Dressman, Craig M. McDonald, Mario Ermani, Elena Pegoraro, Bruno F. Gavassini, I. Lee, M. Bonifati, E. P. Hoffman

المصدر: Neurology. 76:219-226

مصطلحات موضوعية: Genetics, Oncology, medicine.medical_specialty, biology, business.industry, Duchenne muscular dystrophy, Single-nucleotide polymorphism, Odds ratio, medicine.disease, Internal medicine, Genotype, Cohort, medicine, biology.protein, Neurology (clinical), Osteopontin, Allele, business, Genetic association

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e79fa30790cd0757fc120560e19265bb
https://doi.org/10.1212/wnl.0b013e318207afeb

المؤلفون: Luisa, Piva, Bruno F, Gavassini, Luca, Bello, Marina, Fanin, Gianni, Soraru, Andrea, Barp, Mario, Ermani, Corrado, Angelini, Eric P, Hoffman, Elena, Pegoraro

مصطلحات موضوعية: Male, Polymorphism, Genetic, Genotype, Blotting, Western, Receptor, Transforming Growth Factor-beta Type II, Infant, Protein Serine-Threonine Kinases, Article, Cohort Studies, Muscular Dystrophy, Duchenne, Gene Expression Regulation, Transforming Growth Factor beta, Child, Preschool, Humans, Female, Genetic Predisposition to Disease, Osteopontin, RNA, Messenger, Child, Muscle, Skeletal, Receptors, Transforming Growth Factor beta, Signal Transduction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::7cbdde010a23c131427c7b7fd5a9ca68
http://hdl.handle.net/11577/2494873

المؤلفون: Gerolamo Lanfranchi, Stefano Cagnin, Luisa Piva, Stanley F. Nelson, Elena Pegoraro, Theodoros Kyriakides, Eric P. Hoffman, Robert C. Griggs

المصدر: Neurology. 77:1858-1859

مصطلحات موضوعية: Male, mdx mouse, animal diseases, Duchenne muscular dystrophy, Myostatin, Bioinformatics, Polymorphism, Single Nucleotide, Genotype, Utrophin, medicine, Animals, Humans, Osteopontin, Epigenetics, Muscular dystrophy, biology, business.industry, Articles, musculoskeletal system, medicine.disease, Muscular Dystrophy, Duchenne, biology.protein, Female, Neurology (clinical), business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f04921fa9abae31d965283024d9742e6
https://doi.org/10.1212/wnl.0b013e318239b9ae

المؤلفون: Luisa Piva, Angela Berardinelli, Roberta Battini, Stefano C. Previtali, Andrea Barp, Alessandra Ferlini, Marika Pane, Yvan Torrente, Eugenio Mercuri, Mario Ermani, L. Politano, Gianluca Vita, Gianni Sorarù, G. Comi, Tiziana Mongini, P. Boffi, E P Hoffman, Carlo Minetti, Elena Pegoraro, C. Angelini, Luca Bello, E. Bertini, Alessandra D'Amico, S. Messina, Francesca Gualandi, Claudio Bruno

المصدر: Neurology. 78:S15.002-S15.002

مصطلحات موضوعية: Pathology, medicine.medical_specialty, biology, business.industry, Duchenne muscular dystrophy, biology.protein, medicine, Neurology (clinical), Osteopontin, medicine.disease, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3e6e90476c4dd08382cbfd5ccd8fc911
https://doi.org/10.1212/wnl.78.1_meetingabstracts.s15.002