المؤلفون: Emiliano Giardina, Francesca Capon, M Rosaria D'apice, Francesca Amati, Franco Arturi, Sebastiano Filetti, Emanuela Bonifazi, Sabina Pucci, Chiara Conte

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/55/09/BMC_Med_Genet_2002_Jul_23_3_5.tar.gz

وصف الملف: application/zip

العلاقة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.285.1475Test

المؤلفون: Federica Sangiuolo, Emanuela Bruscia, Annalucia Serafino, Anna Maria Nardone, Emanuela Bonifazi, Monica Lais, Dieter C Gruenert

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/c3/1d/BMC_Med_Genet_2002_Sep_23_3_8.tar.gz

مصطلحات موضوعية: gene therapy

وصف الملف: application/zip

العلاقة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.284.9615Test

المؤلفون: Gabriele Siciliano, Ebe Pastorello, Corrado Angelini, P. Cudia, C. Borsato, Laura Palmucci, Enzo Ricci, Rita Di Leo, Francesca Greco, G. Fabbri, Leopoldo Ricciardi, M. Servida, Claudia Manzoli, Lucio Santoro, Giuliana Galluzzi, Rossella Tupler, Leda Volpi, Giuliano Tomelleri, Costanza Lamperti, Liliana Vercelli, Roberto D'Amico, Roberto Frusciante, Michelangelo Cao, Carmelo Rodolico, Maurizio Moggio, Emanuela Bonifazi, Chiara Fiorillo

المصدر: Muscle & Nerve. 42:213-217

مصطلحات موضوعية: Weakness, medicine.medical_specialty, Physiology, business.industry, Concordance, Muscle weakness, medicine.disease, Cellular and Molecular Neuroscience, Cohen's kappa, Physiology (medical), Severity of illness, medicine, Physical therapy, Facioscapulohumeral muscular dystrophy, Neurology (clinical), Muscular dystrophy, medicine.symptom, business, Clinical evaluation

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::16916932231021aa3737e649420b7123Test
https://doi.org/10.1002/mus.21671Test

المؤلفون: M. B. Panico, Chiara Terracciano, Corrado Angelini, Roberto Massa, Giuseppe Novelli, Giorgio Bernardi, Emanuela Bonifazi, Giovanni Meola, Valerio Pisani

المصدر: Muscle & Nerve. 38:1405-1411

مصطلحات موضوعية: musculoskeletal diseases, Pathology, medicine.medical_specialty, Muscle biopsy, medicine.diagnostic_test, Physiology, business.industry, Anatomy, Myotonia, medicine.disease, Myotonic dystrophy, Muscle hypertrophy, Cellular and Molecular Neuroscience, Atrophy, Physiology (medical), Morphological analysis, Biopsy, medicine, Neurology (clinical), Fiber, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0b144a6cdee2da03efa77675b529f1e4Test
https://doi.org/10.1002/mus.21122Test

المؤلفون: Laura Vallo, Giovanni Antonini, Raniero Iraci, Annalisa Botta, Emanuela Bonifazi, Corrado Angelini, Massimo Gennarelli, Roberto Massa, Enrico Di Stasio, Leila B. Salehi, Giuseppe Novelli

المصدر: Genetic Testing. 11:84-90

مصطلحات موضوعية: Risk, musculoskeletal diseases, Oncology, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Pathology, Genotype, Settore MED/26, Logistic regression, Myotonic dystrophy, Correlation, Trinucleotide Repeats, Internal medicine, Humans, Myotonic Dystrophy, Presymptomatic Testing, Medicine, Gene, Categorical variable, Genetics (clinical), business.industry, Odds ratio, medicine.disease, Phenotype, Settore MED/03 - Genetica Medica, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::612cb6a5db9ff099ef36047f7b2718e4Test
https://doi.org/10.1089/gte.2006.0511Test

المؤلفون: Roberto Massa, Emanuela Bonifazi, Francesca Gullotta, Laura Vallo, Doriana Fruci, Sara Caldarola, Annalisa Botta, Giuseppe Novelli, Fabrizio Loreni

المصدر: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1762(3):329-334

مصطلحات موضوعية: musculoskeletal diseases, Untranslated region, Gene isoform, DM2, Cells, RNA Splicing, Recombinant Fusion Proteins, Molecular Sequence Data, Biology, Myotonic dystrophy, Fluorescence, ZNF9 expression, medicine, RNA Precursors, Humans, Myotonic Dystrophy, Protein Isoforms, Lymphocytes, Gene, Molecular Biology, In Situ Hybridization, Cells, Cultured, In Situ Hybridization, Fluorescence, Genetics, Messenger RNA, Cultured, DNA Repeat Expansion, Base Sequence, CCTG expansion, Settore BIO/11, Phenotype, RNA-Binding Proteins, Introns, Zinc Fingers, Gene Expression Regulation, Mutation, Intron, Splicing isoform, medicine.disease, Molecular biology, RNA splicing, Molecular Medicine, Trinucleotide repeat expansion

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ac2e1e6088d7ad7c12d0d0a4df8b71eTest

المؤلفون: Laura Vallo, Ercole Brunetti, Anna Maria Nardone, Raniero Iraci, Francesca Gullotta, Emanuela Bonifazi, Giuseppe Novelli, Annalisa Botta

المصدر: Clinical Chemistry. 52:319-322

مصطلحات موضوعية: Pathology, Clinical Biochemistry, medicine.disease_cause, Pregnancy, Prenatal Diagnosis, Myotonic Dystrophy, genetics, gene mutation, In Situ Hybridization, In Situ Hybridization, Fluorescence, Mutation, medicine.diagnostic_test, article, Genetic disorder, methodology, interphase, Protein-Serine-Threonine Kinases, trinucleotide, fetus, diagnostic procedure, Female, Chorionic Villi, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, phenotype, prenatal development, Protein Serine-Threonine Kinases, Biology, Myotonic dystrophy, Fluorescence, Myotonin-Protein Kinase, autosomal dominant disorder, protein serine threonine kinase, medicine, Humans, controlled study, human, fluorescence in situ hybridization, Gene, myotonic dystrophy protein kinase, RNA, cell nucleus, chorion villus, human cell, myotonic dystrophy, prenatal diagnosis, trophoblast, female, metabolism, mutation, pregnancy, Cell Nucleus, Biochemistry (medical), Chromosome, medicine.disease, Myotonia, Settore MED/03 - Genetica Medica, Fluorescence in situ hybridization

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cacb77ca5d0edda85482f270465c46e5Test
https://doi.org/10.1373/clinchem.2005.056283Test

المؤلفون: A. Botta, Giuseppe Novelli, Emanuela Bonifazi, Laura Vallo, Paola Borgiani

المصدر: Molecular and Cellular Probes. 19:71-74

مصطلحات موضوعية: musculoskeletal diseases, Untranslated region, Linkage disequilibrium, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Myotonic dystrophy, Linkage Disequilibrium, medicine, Humans, Myotonic Dystrophy, SNP, Polymorphism, Molecular Biology, Gene, Genetics, Molecular Epidemiology, Intron, RNA-Binding Proteins, Single Nucleotide, Cell Biology, medicine.disease, Molecular biology, Introns, Restriction site, Case-Control Studies, Italy, Settore MED/03 - Genetica Medica

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96dc91b2402363d85fc7015efa1f9397Test
https://doi.org/10.1016/j.mcp.2004.09.003Test

المؤلفون: Costanza, Lamperti, Greta, Fabbri, Liliana, Vercelli, Roberto, D'Amico, Roberto, Frusciante, Emanuela, Bonifazi, Chiara, Fiorillo, Carlo, Borsato, Michelangelo, Cao, Maura, Servida, Francesca, Greco, Rita, Di Leo, Leda, Volpi, Claudia, Manzoli, Paola, Cudia, Ebe, Pastorello, Leopoldo, Ricciardi, Gabriele, Siciliano, Giuliana, Galluzzi, Carmelo, Rodolico, Lucio, Santoro, Giuliano, Tomelleri, Corrado, Angelini, Enzo, Ricci, Laura, Palmucci, Maurizio, Moggio, Rossella, Tupler

المساهمون: Lamperti, C, Fabbri, G, Vercelli, L, D'Amico, R, Frusciante, R, Bonifazi, E, Fiorillo, C, Borsato, C, Cao, M, Servida, M, Greco, F, Di Leo, R, Volpi, L, Manzoli, C, Cudia, P, Pastorello, E, Ricciardi, L, Siciliano, G, Galluzzi, G, Rodolico, C, Santoro, Lucio, Tomelleri, G, Angelini, C, Ricci, E, Palmucci, L, Moggio, M, Tupler, R.

مصطلحات موضوعية: Adult, Aged, 80 and over, Male, clinical evaluation form, FSHD, Muscle Weakness, severity score, facioscapulohumeral muscular dystrophy, Adolescent, clinical severity score, Reproducibility of Results, Middle Aged, Severity of Illness Index, Muscular Dystrophy, Facioscapulohumeral, muscle weakness distribution, Kappa-statistic, Humans, Female, Aged

وصف الملف: ELETTRONICO

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::6ccea3ecbd1949683609690a3909dbebTest
https://hdl.handle.net/11380/710995Test

المؤلفون: Gianni Sorarù, Elena Pegoraro, Mario Ermani, Emanuela Bonifazi, C. Ferrati, Lidija Antunovic, Giuseppe Novelli, Vincenzo Romeo, Arianna Palmieri, Renzo Manara, Pietro Zucchetta, F. Squarzanti, Corrado Angelini, Carlo P. Trevisan

مصطلحات موضوعية: Adult, Male, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Neurology, Adolescent, Perfusion scanning, Neuropsychological Tests, Myotonic dystrophy, Cohort Studies, White matter, Young Adult, Neuroimaging, Risk Factors, medicine, Humans, Myotonic Dystrophy, Child, Aged, Neuroradiology, Tomography, Emission-Computed, Single-Photon, Brain Diseases, Neuropsychology, Middle Aged, medicine.disease, Magnetic Resonance Imaging, medicine.anatomical_structure, Cohort, Female, Neurology (clinical), Psychology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10dc4b5b07202515d53099f31dd64157Test
http://hdl.handle.net/11577/2433118Test