المؤلفون: Dosi C., Rubegni A., Baldacci J., Galatolo D., Doccini S., Astrea G., Berardinelli A., Bruno C., Bruno G., Comi G. P., Donati M. A., Dotti M. T., Filosto M., Fiorillo C., Giannini F., Gigli G. L., Grandis M., Lopergolo D., Magri F., Maioli M. A., Malandrini A., Massa R., Matà S., Melani F., Messina S., Mignarri A., Moggio M., Pennisi E. M., Pegoraro E., Ricci G., Sacchini M., Schenone A., Sampaolo S., Sciacco M., Siciliano G., Tasca G., Tonin P., Tupler R., Valente M., Volpi N., Cassandrini D., Santorelli F. M.

المساهمون: Dosi, C., Rubegni, A., Baldacci, J., Galatolo, D., Doccini, S., Astrea, G., Berardinelli, A., Bruno, C., Bruno, G., Comi, G. P., Donati, M. A., Dotti, M. T., Filosto, M., Fiorillo, C., Giannini, F., Gigli, G. L., Grandis, M., Lopergolo, D., Magri, F., Maioli, M. A., Malandrini, A., Massa, R., Matà, S., Melani, F., Messina, S., Mignarri, A., Moggio, M., Pennisi, E. M., Pegoraro, E., Ricci, G., Sacchini, M., Schenone, A., Sampaolo, S., Sciacco, M., Siciliano, G., Tasca, G., Tonin, P., Tupler, R., Valente, M., Volpi, N., Cassandrini, D., Santorelli, F. M.

مصطلحات موضوعية: genotype–phenotype correlation, NGS, RYR1-related myopathie, unsupervised cluster analysis

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000950857100001; volume:14; issue:2; firstpage:298; journal:GENES; https://hdl.handle.net/11390/1244047Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85148857472

الإتاحة: https://doi.org/10.3390/genes14020298Test
https://hdl.handle.net/11390/1244047Test

المؤلفون: Marinella G., Astrea G., Buchignani B., Cassandrini D., Doccini S., Filosto M., Galatolo D., Gallone S., Giannini F., Lopergolo D., Maioli M. A., Magri F., Malandrini A., Mandich P., Mari F., Massa R., Mata S., Melani F., Moggio M., Mongini T. E., Pasquariello R., Pegoraro E., Ricci F., Ricci G., Rodolico C., Rubegni A., Siciliano G., Sperti M., Ticci C., Tonin P., Santorelli F. M., Battini R.

المساهمون: Marinella, G., Astrea, G., Buchignani, B., Cassandrini, D., Doccini, S., Filosto, M., Galatolo, D., Gallone, S., Giannini, F., Lopergolo, D., Maioli, M. A., Magri, F., Malandrini, A., Mandich, P., Mari, F., Massa, R., Mata, S., Melani, F., Moggio, M., Mongini, T. E., Pasquariello, R., Pegoraro, E., Ricci, F., Ricci, G., Rodolico, C., Rubegni, A., Siciliano, G., Sperti, M., Ticci, C., Tonin, P., Santorelli, F. M., Battini, R.

مصطلحات موضوعية: COL6-RM, COL6A1, COL6A2, COL6A3

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34318601; info:eu-repo/semantics/altIdentifier/wos/WOS:000896077900001; volume:23; firstpage:1; lastpage:12; numberofpages:12; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; https://hdl.handle.net/11567/1139956Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85143664755

الإتاحة: https://doi.org/10.3390/ijms232314567Test
https://hdl.handle.net/11567/1139956Test

المؤلفون: Ripolone M., Velardo D., Mondello S., Zanotti S., Magri F., Minuti E., Cazzaniga S., Fortunato F., Ciscato P., Tiberio F., Sciacco M., Moggio M., Bettica P., Comi G. P.

المساهمون: M. Ripolone, D. Velardo, S. Mondello, S. Zanotti, F. Magri, E. Minuti, S. Cazzaniga, F. Fortunato, P. Ciscato, F. Tiberio, M. Sciacco, M. Moggio, P. Bettica, G.P. Comi

مصطلحات موضوعية: Becker muscular distrophy, Fibrosi, Histology, Muscle biopsie, Biopsy, Cohort Studie, Human, Muscle, Skeletal, Regeneration, Muscular Dystrophy, Duchenne, Settore MED/26 - Neurologia

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35395784; info:eu-repo/semantics/altIdentifier/wos/WOS:000779601500003; volume:10; issue:1; firstpage:1; lastpage:12; numberofpages:12; journal:ACTA NEUROPATHOLOGICA COMMUNICATIONS; https://hdl.handle.net/2434/925386Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85127888547

الإتاحة: https://doi.org/10.1186/s40478-022-01354-3Test
https://hdl.handle.net/2434/925386Test

المؤلفون: Abati E., Manini A., Velardo D., Del Bo R., Napoli L., Rizzo F., Moggio M., Bresolin N., Bellone E., Bassi M. T., D'Angelo M. G., Comi G. P., Corti S.

المساهمون: E. Abati, A. Manini, D. Velardo, R. Del Bo, L. Napoli, F. Rizzo, M. Moggio, N. Bresolin, E. Bellone, M.T. Bassi, M.G. D'Angelo, G.P. Comi, S. Corti

مصطلحات موضوعية: cross-sectional studie, human, phenotype, Charcot-Marie-tooth disease, GTP phosphohydrolase, mitochondrial proteins, Settore MED/26 - Neurologia

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35418194; info:eu-repo/semantics/altIdentifier/wos/WOS:000783752600052; volume:12; issue:1; firstpage:1; lastpage:8; numberofpages:8; journal:SCIENTIFIC REPORTS; http://hdl.handle.net/2434/925376Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85128165783

الإتاحة: https://doi.org/10.1038/s41598-022-10220-0Test
http://hdl.handle.net/2434/925376Test

المؤلفون: Ranu, N., Laitila, J., Dugdale, H.F., Mariano, J., Kolb, J.S., Wallgren-Pettersson, C., Witting, N., Vissing, J., Vilchez, J.J., Fiorillo, C., Zanoteli, E., Auranen, M., Jokela, M., Tasca, G., Claeys, K.G., Voermans, N.C., Palmio, J., Huovinen, S., Moggio, M., Beck, T.N., Kontrogianni-Konstantopoulos, A., Granzier, H., Ochala, J.

المساهمون: Department of Cellular and Molecular Medicine, University of Arizona

المصدر: Acta Neuropathologica Communications

مصطلحات موضوعية: Metabolism, Myosin, Nebulin, Nemaline myopathy, Skeletal muscle

العلاقة: Ranu, N., Laitila, J., Dugdale, H. F., Mariano, J., Kolb, J. S., Wallgren-Pettersson, C., Witting, N., Vissing, J., Vilchez, J. J., Fiorillo, C., Zanoteli, E., Auranen, M., Jokela, M., Tasca, G., Claeys, K. G., Voermans, N. C., Palmio, J., Huovinen, S., Moggio, M., … Ochala, J. (2022). NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy. Acta Neuropathologica Communications, 10(1).; http://hdl.handle.net/10150/670539Test; Acta Neuropathologica Communications

الإتاحة: https://doi.org/10.1186/s40478-022-01491-9Test
http://hdl.handle.net/10150/670539Test

المؤلفون: Ticci C., Orsucci D., Ardissone A., Bello L., Bertini E., Bonato I., Bruno C., Carelli V., Diodato D., Doccini S., Donati M. A., Dosi C., Filosto M., Fiorillo C., La Morgia C., Lamperti C., Marchet S., Martinelli D., Minetti C., Moggio M., Mongini T. E., Montano V., Moroni I., Musumeci O., Pancheri E., Pegoraro E., Primiano G., Procopio E., Rubegni A., Scalise R., Sciacco M., Servidei S., Siciliano G., Simoncini C., Tolomeo D., Tonin P., Toscano A., Tubili F., Mancuso M., Battini R., Santorelli F. M.

المساهمون: Ticci C., Orsucci D., Ardissone A., Bello L., Bertini E., Bonato I., Bruno C., Carelli V., Diodato D., Doccini S., Donati M.A., Dosi C., Filosto M., Fiorillo C., La Morgia C., Lamperti C., Marchet S., Martinelli D., Minetti C., Moggio M., Mongini T.E., Montano V., Moroni I., Musumeci O., Pancheri E., Pegoraro E., Primiano G., Procopio E., Rubegni A., Scalise R., Sciacco M., Servidei S., Siciliano G., Simoncini C., Tolomeo D., Tonin P., Toscano A., Tubili F., Mancuso M., Battini R., Santorelli F.M.

مصطلحات موضوعية: Childhood onset, Mitochondrial disease, Movement disorder, Multicenter cross-sectional study

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34065803; info:eu-repo/semantics/altIdentifier/wos/WOS:000654903800001; volume:10; issue:10; firstpage:2063; lastpage:2077; numberofpages:15; journal:JOURNAL OF CLINICAL MEDICINE; http://hdl.handle.net/2318/1858776Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85114079802

الإتاحة: https://doi.org/10.3390/jcm10102063Test
http://hdl.handle.net/2318/1858776Test

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

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/11573/1529640Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85089530568

الإتاحة: https://doi.org/10.1007/s00415-020-10144-7Test
http://hdl.handle.net/11573/1529640Test

المؤلفون: Moriggi M., Capitanio D., Torretta E., Barbacini P., Bragato C., Sartori P., Moggio M., Maggi L., Mora M., Gelfi C.

المساهمون: Moriggi, M, Capitanio, D, Torretta, E, Barbacini, P, Bragato, C, Sartori, P, Moggio, M, Maggi, L, Mora, M, Gelfi, C

مصطلحات موضوعية: Autophagy, Mass spectrometry, Pompe disease, Proteomic, Rare disease, Sarcopenia

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33799647; info:eu-repo/semantics/altIdentifier/wos/WOS:000645781600001; volume:22; issue:6; firstpage:1; lastpage:20; numberofpages:20; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; https://hdl.handle.net/10281/400995Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85102355801

الإتاحة: https://doi.org/10.3390/ijms22062850Test
https://hdl.handle.net/10281/400995Test

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

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32290091; info:eu-repo/semantics/altIdentifier/wos/WOS:000535574200377; volume:21; issue:7; firstpage:2635; lastpage:2652; numberofpages:18; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; http://hdl.handle.net/11573/1529636Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85083412946

الإتاحة: https://doi.org/10.3390/ijms21072635Test
http://hdl.handle.net/11573/1529636Test

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

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

مصطلحات موضوعية: Adult, Allele, Biological Variation, Population, Cross-Sectional Studie, European Continental Ancestry Group, Family, Female, Human, Italy, Male, Middle Aged, Muscular Dystrophy, Facioscapulohumeral, Pedigree, Registries

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32356886; info:eu-repo/semantics/altIdentifier/wos/WOS:000531408000006; volume:3; issue:5; firstpage:1; lastpage:13; numberofpages:13; journal:JAMA NETWORK OPEN; http://hdl.handle.net/11573/1529633Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85084918449

الإتاحة: https://doi.org/10.1001/jamanetworkopen.2020.4040Test
http://hdl.handle.net/11573/1529633Test