المؤلفون: Philip Cammish, Teresinha Evangelista, Hanns Lochmüller, Rossella Tupler, Giulia Ricci, Gabriele Siciliano

مصطلحات موضوعية: Adult, Male, musculoskeletal diseases, 0301 basic medicine, Shoulder, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Physiology, Facial Muscles, Disease, 030105 genetics & heredity, Severity of Illness Index, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Physiology (medical), Internal medicine, Severity of illness, medicine, CCEF, clinical phenotypes, Comprehensive Clinical Evaluation Form, facial-sparing FSHD phenotype, facioscapulohumeral muscular dystrophy, trial readiness, UK FSHD Patient Registry, Age of Onset, Aged, Disease Progression, Female, Humans, Middle Aged, Muscle Weakness, Muscular Dystrophy, Facioscapulohumeral, Phenotype, Prognosis, Facioscapulohumeral muscular dystrophy, Muscular dystrophy, business.industry, Muscle weakness, medicine.disease, Clinical trial, Facial muscles, medicine.anatomical_structure, Neurology (clinical), medicine.symptom, Age of onset, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ab8fad77579deaaf372f83415d513eeTest
http://hdl.handle.net/11568/999862Test

المؤلفون: Jessica Daolio, Fabiano Mele, Giuliano Tomelleri, Lucia Morandi, Liliana Vercelli, Grazia D'Angelo, Tiziana Mongini, Francesco Sera, Giovanni Antonini, Lucia Ruggiero, Elisabetta Bucci, Luisa Villa, Maria Chiara D’Amico, Michelangelo Cao, Giulia Ricci, Maurizio Moggio, Elena Pegoraro, Lorenzo Maggi, Carmelo Rodolico, Ana Nikolic, Antonio Di Muzio, Gabriele Siciliano, Corrado Angelini, Angela Berardinelli, Monica Govi, Lucio Santoro, Massimiliano Filosto, Rossella Tupler

المساهمون: Ricci, Giulia, Ruggiero, Lucia, Vercelli, Liliana, Sera, Francesco, Nikolic, Ana, Govi, Monica, Mele, Fabiano, Daolio, Jessica, Angelini, Corrado, Antonini, Giovanni, Berardinelli, Angela, Bucci, Elisabetta, Cao, Michelangelo, D’Amico, Maria Chiara, D’Angelo, Grazia, Di Muzio, Antonio, Filosto, Massimiliano, Maggi, Lorenzo, Moggio, Maurizio, Mongini, Tiziana, Morandi, Lucia, Pegoraro, Elena, Rodolico, Carmelo, Santoro, Lucio, Siciliano, Gabriele, Tomelleri, Giuliano, Villa, Luisa, Tupler, Rossella

المصدر: Journal of Neurology

مصطلحات موضوعية: Male, 0301 basic medicine, Diagnostic criteria, Facioscapulohumeral, 030105 genetics & heredity, 0302 clinical medicine, Cohen's kappa, Clinical phenotype, Facioscapulohumeral muscular dystrophy, Muscular Dystrophy, Registries, Age of Onset, Neurologic Examination, Observer Variation, Original Communication, Middle Aged, Muscular Dystrophy, Facioscapulohumeral, Facial muscles, Phenotype, medicine.anatomical_structure, Italy, Neurology, Categorization, Disease classification, Disease registry, FSHD, Neurology (clinical), Female, medicine.symptom, Adult, Aged, Family, Genetic Predisposition to Disease, Humans, Motor Activity, Muscle Strength, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Genetic counseling, Concordance, Clinical Neurology, clinical phenotype, diagnostic criteria, disease classification, disease registry, neurology, 03 medical and health sciences, Physical medicine and rehabilitation, Internal medicine, medicine, business.industry, Muscle weakness, medicine.disease, nervous system diseases, Age of onset, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc3010218411d55648760d042990e1c9Test
http://hdl.handle.net/11568/799177Test

المؤلفون: Elisabetta Bucci, Michelangelo Cao, Lucia Morandi, M. Servida, Giovanni Antonini, Francesco Sera, Giuliana Galluzzi, Isabella Scionti, Jessica Daolio, Giuliano Tomelleri, Carmelo Rodolico, Maurizio Moggio, Enzo Ricci, Fabiano Mele, Tiziana Mongini, Lorenzo Maggi, A. Di Muzio, Liliana Vercelli, Elisabetta Iannaccone, Ilaria Frambolli, Giulia Ricci, Lucia Ruggiero, L. Santoro, Ana Nikolic, Roberto D'Amico, Corrado Angelini, Angela Berardinelli, Maruotti, Gabriele Siciliano, Monica Govi, Massimiliano Filosto, R. Di Leo, Ebe Pastorello, Rossella Tupler

المساهمون: G., Ricci, I., Scionti, F., Sera, M., Govi, R., D'Amico, I., Frambolli, F., Mele, M., Filosto, L., Vercelli, Ruggiero, Lucia, A., Berardinelli, C., Angelini, G., Antonini, E., Bucci, M., Cao, J., Daolio, A., Di Muzio, R., Di Leo, G., Galluzzi, E., Iannaccone, L., Maggi, V., Maruotti, M., Moggio, T., Mongini, L., Morandi, A., Nikolic, E., Pastorello, E., Ricci, C., Rodolico, Santoro, Lucio, M., Servida, G., Siciliano, G., Tomelleri, R., Tupler

المصدر: Brain

مصطلحات موضوعية: Proband, Male, Facioscapulohumeral, genotype-phenotype correlations, facioscapulohumeral muscular dystrophy, d4z4 reduced allele, disease expression, penetrance, D4Z4 reduced allele, Disease expression, Facioscapulohumeral muscular dystrophy, Genotype-phenotype correlations, Penetrance, Chromosome Disorders, Disease, human molecular genetics, 0302 clinical medicine, Genotype, Muscular Dystrophy, Registries, Genetics, 0303 health sciences, Middle Aged, Prognosis, Muscular Dystrophy, Facioscapulohumeral, Pedigree, Settore MED/26 - NEUROLOGIA, Pair 4, Female, Chromosome Deletion, Chromosomes, Human, Pair 4, Human, musculoskeletal diseases, Adult, Adolescent, Biology, genotype-phenotype correlation, Chromosomes, genotype–phenotype correlations, 03 medical and health sciences, Young Adult, DUX4, medicine, Humans, Genetic Predisposition to Disease, Allele, Genetic Association Studies, 030304 developmental biology, Aged, Homeodomain Proteins, facioscapulohumeral muscular dystrophy, D4Z4 reduced allele, genotype–phenotype correlations, penetrance, disease expression, Haplotype, Original Articles, medicine.disease, Haplotypes, Neurology (clinical), 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53148c37e34d51dba1397b7479c33b46Test
http://hdl.handle.net/2318/138837Test

المؤلفون: Giulia Ricci, Chiara Fiorillo, Michelangelo Cao, Giuliano Tomelleri, Liliana Vercelli, G. Fabbri, Alberto Termanini, Rossella Tupler, Francesca Greco, Lucio Santoro, Isabella Scionti, Antonio Percesepe, Roberto D'Amico

المساهمون: Scionti, I, Fabbri, G, Fiorillo, C, Ricci, G, Greco, F, D'Amico, R, Termanini, A, Vercelli, L, Tomelleri, G, Cao, M, Santoro, Lucio, Percesepe, A, Tupler, R.

مصطلحات موضوعية: Male, Facioscapulohumeral, DNA Mutational Analysis, Compound heterozygosity, Gene Frequency, Facioscapulohumeral muscular dystrophy, genetic counselling, prenatal diagnosis, 80 and over, Muscular Dystrophy, Child, Genetics (clinical), Sequence Deletion, Aged, 80 and over, Genetics, education.field_of_study, Autosomal dominant trait, Middle Aged, Muscular Dystrophy, Facioscapulohumeral, Pedigree, Pair 4, Tandem Repeat Sequences, Female, Chromosomes, Human, Pair 4, Human, Adult, musculoskeletal diseases, Heterozygote, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Genetic counseling, Population, Genetic Counseling, Biology, Chromosomes, Young Adult, medicine, Humans, Allele, education, Allele frequency, Genetic Association Studies, Aged, prenatal genetic counselling, association, Haplotypes, Haplotype, medicine.disease

وصف الملف: ELETTRONICO

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83c59a9f1cc6a38a46662e58a192fbb4Test
http://hdl.handle.net/11562/386264Test

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: Laura Palmucci, Tiziana Mongini, Gino Marioni, Alessandro Rimini, Ebe Pastorello, Corrado Angelini, Rossella Tupler, Giuliana Galluzzi, Carlo P. Trevisan, Paola Tonin, Mario Ermani, Giuliano Tomelleri

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Facioscapulohumeral muscular dystrophy, Audiometry, Hearing loss, Adolescent, Hear Involvement, Physiology, Hearing Loss, Sensorineural, Audiology, Facioscapulohumeral dystrophy, # Audiometry, Speech and Hearing, Risk Factors, medicine, Prevalence, Humans, Genetic Predisposition to Disease, Muscular dystrophy, Myopathy, Hearing Function, Aged, Aged, 80 and over, Gene Rearrangement, medicine.diagnostic_test, business.industry, Gene rearrangement, Middle Aged, medicine.disease, Sensory Systems, Muscular Dystrophy, Facioscapulohumeral, Otorhinolaryngology, Audiometry, Pure-Tone, Sensorineural hearing loss, Female, medicine.symptom, Age of onset, Chromosomes, Human, Pair 4, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7cef6ba9692d75d3587071bc80fdf85dTest
http://hdl.handle.net/2318/26710Test

المؤلفون: Ebe Pastorello, Corrado Angelini, Carlo P. Trevisan, Paola Tonin, Mario Armani, Rossella Tupler, Agata Barchitta, Tiziana Mongini, Giuliano Tomelleri, Giovanni Nante, Laura Palmucci, Giuliana Galluzzi

مصطلحات موضوعية: musculoskeletal diseases, Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Heart disease, Adolescent, MEDLINE, Severity of Illness Index, Heart arrhythmia, Facioscapulohumeral muscular dystrophy, Risk Factors, Internal medicine, Severity of illness, medicine, Humans, Muscular dystrophy, Aged, Neurologic Examination, business.industry, Facioscapulohumeral muscular dystrophy Heart involvement Arrhythmia, Arrhythmias, Cardiac, Middle Aged, medicine.disease, Muscular Dystrophy, Facioscapulohumeral, Neurology, Multicenter study, Molecular Diagnostic Techniques, Echocardiography, Physical therapy, Heart involvement, Arrhythmia, Female, Neurology (clinical), business, Cardiac symptoms

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ccc4414d98b7a9bb13f26d2337a8e18Test
http://hdl.handle.net/11577/2452414Test

المؤلفون: R Sposito, Livia Pasquali, F Galluzzi, Gabriele Siciliano, D. Soragna, Anna Rocchi, Rossella Tupler, B Solito

المصدر: Genetic testing. 9(1)

مصطلحات موضوعية: Adult, medicine.medical_specialty, Pathology, Pediatrics, Adolescent, Genotype, Facioscapulohumeral, Prevalence, Molecular genetics, Epidemiology, Medicine, Facioscapulohumeral muscular dystrophy, Humans, Aged, Child, Italy, Middle Aged, Muscular Dystrophy, Facioscapulohumeral, Phenotype, Muscular Dystrophy, Muscular dystrophy, Genetics (clinical), Genetic testing, medicine.diagnostic_test, business.industry, medicine.disease, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed6aed44cc5db3c00089572898d4ff15Test
https://pubmed.ncbi.nlm.nih.gov/15857184Test

المؤلفون: Francesca Greco, Woodring E. Wright, Giuliano Tomelleri, Angela Berardinelli, Corrado Angelini, Carlo P. Trevisan, Rossella Tupler, Gabriele Siciliano, Michelangelo Cao, Isabella Scionti, Giovanni Antonini, Mayana Zatz, Maurizio Moggio, Giulia Ricci, Antonio Di Muzio, Lucio Santoro, Lucia Morandi, Patricia Arashiro, Lucia Ruggiero, Giuliana Galluzzi, Enzo Ricci, Carmelo Rodolico, Liliana Vercelli, Monica Govi

المساهمون: Scionti, I, Greco, F, Ricci, G, Govi, M, Arashiro, P, Vercelli, L, Berardinelli, A, Angelini, C, Antonini, G, Cao, M, Di Muzio, A, Moggio, M, Morandi, L, Ricci, E, Rodolico, C, Ruggiero, Lucia, Santoro, Lucio, Siciliano, G, Tomelleri, G, Trevisan, Cp, Galluzzi, G, Wright, W, Zatz, M, Tupler, R.

المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP

مصطلحات موضوعية: Adult, Male, Proband, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, diagnosis, Population, Biology, Facioscapulohumeral muscular dystrophy, Tandem repeat, DUX4, medicine, Genetics, Humans, Genetics(clinical), Genetic Testing, Allele, education, Genetics (clinical), Aged, Genetic testing, genotipo, aplotipo, FSHD, education.field_of_study, genetic counseling, prenatal diagnosis, Polymorphism, Genetic, medicine.diagnostic_test, Haplotype, Middle Aged, medicine.disease, Muscular Dystrophy, Facioscapulohumeral, nervous system diseases, GENÉTICA MOLECULAR, Haplotypes, Italy, Tandem Repeat Sequences, myopathy, Female, Chromosomes, Human, Pair 4, Brazil

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65e953fa946c65a7b50b50922b96d635Test