المؤلفون: Vercelli L., Mele F., Ruggiero L., Sera F., Tripodi S., Ricci G., Vallarola A., Villa L., Govi M., Maranda L., Di Muzio A., Scarlato M., Bucci E., Maggi L., Rodolico C., Moggio M., Filosto M., Antonini G., Previtali S., Angelini C., Berardinelli A., Pegoraro E., Siciliano G., Tomelleri G., Santoro L., Mongini T., Tupler R.

المساهمون: Vercelli, L., Mele, F., Ruggiero, L., Sera, F., Tripodi, S., Ricci, G., Vallarola, A., Villa, L., Govi, M., Maranda, L., Di Muzio, A., Scarlato, M., Bucci, E., Maggi, L., Rodolico, C., Moggio, M., Filosto, M., Antonini, G., Previtali, S., Angelini, C., Berardinelli, A., Pegoraro, E., Siciliano, G., Tomelleri, G., Santoro, L., Mongini, T., Tupler, R.

مصطلحات موضوعية: Clinical categorie, D4Z4 reduced allele, Follow-up, FSHD, Follow-Up Studie, Human, Italy, Phenotype, Registrie, Muscular Dystrophy, Facioscapulohumeral

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32813049; info:eu-repo/semantics/altIdentifier/wos/WOS:000561058200002; volume:268; issue:1; firstpage:356; lastpage:366; numberofpages:11; journal:JOURNAL OF NEUROLOGY; http://hdl.handle.net/11577/3395082Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85089530568

الإتاحة: https://doi.org/10.1007/s00415-020-10144-7Test
http://hdl.handle.net/11577/3395082Test

المؤلفون: Nikolic A., Jones T. I., Govi M., Mele F., Maranda L., Sera F., Ricci G., Ruggiero L., Vercelli L., Portaro S., Villa L., Fiorillo C., Maggi L., Santoro L., Antonini G., Filosto M., Moggio M., Angelini C., Pegoraro E., Berardinelli A., Maioli M. A., D'Angelo G., Di Muzio A., Siciliano G., Tomelleri G., D'Esposito M., Ragione F. D., Brancaccio A., Piras R., Rodolico C., Mongini T., Magdinier F., Salsi V., Jones P. L., Tupler R.

المساهمون: Nikolic, A., Jones, T. I., Govi, M., Mele, F., Maranda, L., Sera, F., Ricci, G., Ruggiero, L., Vercelli, L., Portaro, S., Villa, L., Fiorillo, C., Maggi, L., Santoro, L., Antonini, G., Filosto, M., Moggio, M., Angelini, C., Pegoraro, E., Berardinelli, A., Maioli, M. A., D'Angelo, G., Di Muzio, A., Siciliano, G., Tomelleri, G., D'Esposito, M., Ragione, F. D., Brancaccio, A., Piras, R., Rodolico, C., Mongini, T., Magdinier, F., Salsi, V., Jones, P. L., Tupler, R.

مصطلحات موضوعية: D4Z4 reduced allele, DNA methylation, FSHD, Genotype-phenotype correlation, Molecular diagnosi, Allele, Biological Variation, Population, Family, Genetic Predisposition to Disease, Human, Muscular Dystrophy, Facioscapulohumeral, Pedigree, ROC Curve, Epigenesis, Genetic, Epigenomic, Genetic Association Studie, Genotype, Phenotype

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32290091; info:eu-repo/semantics/altIdentifier/wos/WOS:000535574200377; volume:21; issue:7; firstpage:2635; numberofpages:18; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; http://hdl.handle.net/11577/3395078Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85083412946

الإتاحة: https://doi.org/10.3390/ijms21072635Test
http://hdl.handle.net/11577/3395078Test

المؤلفون: Nikolic A., Jones T. I., Govi M., Mele F., Maranda L., Sera F., Ricci G., Ruggiero L., Vercelli L., Portaro S., Villa L., Fiorillo C., Maggi L., Santoro L., Antonini G., Filosto M., Moggio M., Angelini C., Pegoraro E., Berardinelli A., Maioli M. A., D'Angelo G., Di Muzio A., Siciliano G., Tomelleri G., D'Esposito M., Ragione F. D., Brancaccio A., Piras R., Rodolico C., Mongini T., Magdinier F., Salsi V., Jones P. L., Tupler R.

المساهمون: Nikolic, A., Jones, T. I., Govi, M., Mele, F., Maranda, L., Sera, F., Ricci, G., Ruggiero, L., Vercelli, L., Portaro, S., Villa, L., Fiorillo, C., Maggi, L., Santoro, L., Antonini, G., Filosto, M., Moggio, M., Angelini, C., Pegoraro, E., Berardinelli, A., Maioli, M. A., D'Angelo, G., Di Muzio, A., Siciliano, G., Tomelleri, G., D'Esposito, M., Ragione, F. D., Brancaccio, A., Piras, R., Rodolico, C., Mongini, T., Magdinier, F., Salsi, V., Jones, P. L., Tupler, R.

مصطلحات موضوعية: D4Z4 reduced allele, DNA methylation, FSHD, Genotype-phenotype correlation, Molecular diagnosis

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000535574200377; volume:21; issue:7; firstpage:2635; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; http://hdl.handle.net/11577/3450353Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85083412946

الإتاحة: https://doi.org/10.3390/ijms21072635Test
http://hdl.handle.net/11577/3450353Test

المؤلفون: Cao, Michelangelo

المساهمون: Cao, Michelangelo, Pegoraro, Elena, Thiene, Gaetano

مصطلحات موضوعية: FSHD, chromosome X inactivation, SMCHD1, miasthenia gravis, MuSK, SHP2, Settore MED/26 - Neurologia

العلاقة: numberofpages:156; http://hdl.handle.net/11577/3424691Test

الإتاحة: http://hdl.handle.net/11577/3424691Test

المؤلفون: 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, Rodolico, Carmelo, Santoro, Lucio, Siciliano, Gabriele, Tomelleri, Giuliano, Villa, Luisa, Tupler, Rossella, PEGORARO, ELENA

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

مصطلحات موضوعية: Clinical phenotype, Diagnostic criteria, Disease classification, Disease registry, FSHD, Adult, Age of Onset, Aged, Family, Female, Genetic Predisposition to Disease, Human, Italy, Male, Middle Aged, Motor Activity, Muscle Strength, Muscular Dystrophy, Facioscapulohumeral, Neurologic Examination, Observer Variation, Phenotype, Registrie, Neurology, Neurology (clinical)

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27126453; info:eu-repo/semantics/altIdentifier/wos/WOS:000377450700018; volume:263; issue:6; firstpage:1204; lastpage:1214; numberofpages:11; journal:JOURNAL OF NEUROLOGY; http://hdl.handle.net/11577/3232583Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84964546762

الإتاحة: https://doi.org/10.1007/s00415-016-8123-2Test
http://hdl.handle.net/11577/3232583Test

المؤلفون: MOSTACCIUOLO, MARIA LUISA, VAZZA, GIOVANNI, ANGELINI, CORRADO, TREVISAN, CARLO PIETRO, PASTORELLO E, MIORIN M, TOMELLERI G, GALLUZZI G

المساهمون: Mostacciuolo, MARIA LUISA, Pastorello, E, Vazza, Giovanni, Miorin, M, Angelini, Corrado, Tomelleri, G, Galluzzi, G, Trevisan, CARLO PIETRO

مصطلحات موضوعية: epidemiology, facioscapulohumeral muscular dystrophy, FSHD, PREVALENCE

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/19320656; info:eu-repo/semantics/altIdentifier/wos/WOS:000266488100009; volume:75; firstpage:550; lastpage:555; numberofpages:6; journal:CLINICAL GENETICS; http://hdl.handle.net/11577/2434177Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-66549122709

الإتاحة: https://doi.org/10.1111/j.1399-0004.2009.01158.xTest
http://hdl.handle.net/11577/2434177Test