المؤلفون: Di Fonzo A., Percetti M., Monfrini E., Palmieri I., Albanese A., Avenali M., Bartoletti-Stella A., Blandini F., Brescia G., Calandra Buonaura G., Campopiano R., Capellari S., Colangelo I., Comi G. P., Cuconato G., Ferese R., Galandra C., Gambardella S., Garavaglia B., Gaudio A., Giardina E., Invernizzi F., Mandich P., Mineri R., Panteghini C., Reale C., Trevisan L., Zampatti S., Cortelli P., Valente E. M., PARKNET study group, Baldelli L., Carelli V., Giannini G.

المساهمون: Di Fonzo A., Percetti M., Monfrini E., Palmieri I., Albanese A., Avenali M., Bartoletti-Stella A., Blandini F., Brescia G., Calandra Buonaura G., Campopiano R., Capellari S., Colangelo I., Comi G.P., Cuconato G., Ferese R., Galandra C., Gambardella S., Garavaglia B., Gaudio A., Giardina E., Invernizzi F., Mandich P., Mineri R., Panteghini C., Reale C., Trevisan L., Zampatti S., Cortelli P., Valente E.M., PARKNET study group, Baldelli L., Carelli V., Giannini G.

مصطلحات موضوعية: EOPD, gene panel, next-generation sequencing, Parkinson's disease, variant classification

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/37750340; info:eu-repo/semantics/altIdentifier/wos/WOS:001071591800001; volume:38; issue:12; firstpage:2241; lastpage:2248; numberofpages:8; journal:MOVEMENT DISORDERS; https://hdl.handle.net/11585/955745; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85172128841

الاتاحة: https://hdl.handle.net/11585/955745
https://doi.org/10.1002/mds.29617
https://movementdisorders.onlinelibrary.wiley.com/doi/full/10.1002/mds.29617

المؤلفون: Tsoi, LC, Spain, SL, Knight, J, Ellinghaus, E, Stuart, PE, Capon, F, Ding, J, Li, YM, Tejasvi, T, Gudjonsson, JE, Kang, HM, Allen, MH, McManus, R, Novelli, G, Samuelsson, L, Schalkwijk, J, Stahle, M, Burden, AD, Smith, CH, Cork, MJ, Estivill, X, Bowcock, AM, Krueger, GG, Weger, W, Worthington, J, Tazi-Ahnini, R, Nestle, FO, Hayday, A, Hoffmann, P, Winkelmann, J, Wijmenga, C, Langford, C, Edkins, S, Andrews, R, Blackburn, H, Strange, A, Band, G, Pearson, RD, Vukcevic, D, Spencer, CCA, Deloukas, P, Mrowietz, U, Schreiber, S, Weidinger, S, Koks, S, Kingo, K, Esko, T, Metspalu, A, Lim, HW, Voorhees, JJ, Weichenthal, M, Wichmann, HE, Chandran, V, Rosen, CF, Rahman, P, Gladman, DD, Griffiths, CEM, Reis, A, Kere, J, Nair, RP, Franke, A, Barker, JNWN, Abecasis, GR, Elder, JT, Trembath, RC, Duffin, KC, Helms, C, Goldgar, D, Li, Y, Paschall, J, Malloy, MJ, Pullinger, CR, Kane, JP, Gardner, J, Perlmutter, A, Miner, A, Feng, BJ, Hiremagalore, R, Ike, RW, Christophers, E, Henseler, T, Ruether, A, Schrodi, SJ, Prahalad, S, Guthery, SL, Fischer, J, Liao, W, Kwok, P, Menter, A, Lathrop, GM, Wise, C, Begovich, AB, Onoufriadis, A, Weale, ME, Hofer, A, Salmhofer, W, Wolf, P, Kainu, K, Saarialho-Kere, U, Suomela, S, Badorf, P, Huffmeier, U, Kurrat, W, Kuster, W, Lascorz, J, Mossner, R, Schurmeier-Horst, F, Stander, M, Traupe, H, Bergboer, JGM, den Heijer, M, van de Kerkhof, PCV, Zeeuwen, PLJM, Barnes, L, Campbell, LE, Cusack, C, Coleman, C, Conroy, J, Ennis, S, Fitzgerald, O, Gallagher, P, Irvine, AD, Kirby, B, Markham, T, McLean, WHI, McPartlin, J, Rogers, SF, Ryan, AW, Zawirska, A, Giardina, E, Lepre, T, Perricone, C, Martin-Ezquerra, G, Pujol, RM, Riveira-Munoz, E, Inerot, A, Naluai, AT, Mallbris, L, Wolk, K, Leman, J, Barton, A, Warren, RB, Young, HS, Ricano-Ponce, I, Trynka, G, Pellett, FJ, Henschel, A, Aurand, M, Bebo, B, Gieger, C, Illig, T, Moebus, S, Jockel, KH, Erbe, R, Donnelly, P, Peltonen, L, Blackwell, JM, Bramon, E, Brown, MA, Casas, JP, Corvin, A, Craddock, N, Duncanson, A, Jankowski, J, Markus, HS, Mathew, CG, McCarthy, MI, Palmer, CNA, Plomin, R, Rautanen, A, Sawcer, SJ, Samani, N, Viswanathan, AC, Wood, NW, Bellenguez, C, Freeman, C, Hellenthal, G, Giannoulatou, E, Pirinen, M, Su, Z, Hunt, SE, Gwilliam, R, Bumpstead, SJ, Dronov, S, Gillman, M, Gray, E, Hammond, N, Jayakumar, A, McCann, OT, Liddle, J, Perez, ML, Potter, SC, Ravindrarajah, R, Ricketts, M, Waller, M, Weston, P, Widaa, S, Whittaker, P

المصدر: Nature genetics. 44(12):1341-1348

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:125738402

المؤلفون: Riveira-Munoz, E, He, SM, Escaramis, G, Stuart, PE, Huffmeier, U, Lee, C, Kirby, B, Oka, A, Giardina, E, Liao, W, Bergboer, J, Kainu, K, de Cid, R, Munkhbat, B, Zeeuwen, PLJM, Armour, JAL, Poon, A, Mabuchi, T, Ozawa, A, Zawirska, A, Burden, AD, Barker, JN, Capon, F, Traupe, H, Sun, LD, Cui, Y, Yin, XY, Chen, G, Lim, HW, Nair, RP, Voorhees, JJ, Tejasvi, T, Pujol, R, Munkhtuvshin, N, Fischer, J, Kere, J, Schalkwijk, J, Bowcock, AM, Kwok, PY, Novelli, G, Inoko, H, Ryan, AW, Trembath, RC, Reis, A, Zhang, XJ, Elder, JT, Estivill, X

المصدر: The Journal of investigative dermatology. 131(5):1105-1109

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:122434429

المؤلفون: Buscemi L., Bini C., Caenazzo L., De Stefano F., Domenici R., Fattorini P., Garofano P., Giardina E., Pelotti S., Oldoni F., Piccinini A., Robino C.

المساهمون: Buscemi L., Bini C., Caenazzo L., De Stefano F., Domenici R., Fattorini P., Garofano P., Giardina E., Pelotti S., Oldoni F., Piccinini A., Robino C.

Relation: 29th Congress of the International Society for Forensic Genetics; volume:8; firstpage:213; lastpage:214; numberofpages:2; journal:FORENSIC SCIENCE INTERNATIONAL: GENETICS SUPPLEMENT SERIES; https://hdl.handle.net/2318/1891769; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85143551050

الاتاحة: https://hdl.handle.net/2318/1891769
https://doi.org/10.1016/j.fsigss.2022.10.039

المؤلفون: Dolcetti E., Buttari F., Bruno A., Azzolini F., Gilio L., Borrelli A., Di Caprio V., Lauritano G., Galifi G., Gambardella S., Ferese R., Giardina E., Rovella V., Furlan R., Finardi A., Musella A., Balletta S., Mandolesi G., Centonze D., Stampanoni Bassi M.

المساهمون: Dolcetti, E., Buttari, F., Bruno, A., Azzolini, F., Gilio, L., Borrelli, A., Di Caprio, V., Lauritano, G., Galifi, G., Gambardella, S., Ferese, R., Giardina, E., Rovella, V., Furlan, R., Finardi, A., Musella, A., Balletta, S., Mandolesi, G., Centonze, D., Stampanoni Bassi, M.

مصطلحات موضوعية: IL-5, multiple sclerosis, neuroinflammation, rs2069812, single-nucleotide polymorphism

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:001307064200001; volume:25; issue:16; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; https://hdl.handle.net/20.500.11768/174133

الاتاحة: https://hdl.handle.net/20.500.11768/174133
https://doi.org/10.3390/ijms25169108

المؤلفون: Dolcetti E., Musella A., Balletta S., Gilio L., Bruno A., Stampanoni Bassi M., Lauritano G., Buttari F., Fresegna D., Tartacca A., Mariani F., Palmerio F., Rovella V., Ferese R., Gambardella S., Giardina E., Finardi A., Furlan R., Mandolesi G., Centonze D., De Vito F.

المساهمون: Dolcetti, E., Musella, A., Balletta, S., Gilio, L., Bruno, A., Stampanoni Bassi, M., Lauritano, G., Buttari, F., Fresegna, D., Tartacca, A., Mariani, F., Palmerio, F., Rovella, V., Ferese, R., Gambardella, S., Giardina, E., Finardi, A., Furlan, R., Mandolesi, G., Centonze, D., De Vito, F.

مصطلحات موضوعية: biomarker, microRNA, neuroinflammation, proinflammatory cytokine, synapsis, synaptopathy

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:001233128400001; volume:25; issue:10; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; https://hdl.handle.net/20.500.11768/174128

الاتاحة: https://hdl.handle.net/20.500.11768/174128
https://doi.org/10.3390/ijms25105253

المؤلفون: Caputo V, Megalizzi D, Fabrizio C, Termine A, Colantoni L, Bax C, Gimenez J, Monforte M, Tasca G, Ricci E, Caltagirone C, Giardina E, Cascella R, Strafella C

المصدر: Cells, December 2022

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/289713; https://eprints.ncl.ac.uk/fulltext.aspx?url=289713/D37D677D-0A47-4CA4-9146-4229DAF4A81F.pdf&pub_id=289713

الاتاحة: https://eprints.ncl.ac.uk/289713

المؤلفون: Ferese R., Campopiano R., Scala S., D'Alessio C., Storto M., Buttari F., Centonze D., Logroscino G., Zecca C., Zampatti S., Fornai F., Cianci V., Manfroi E., Giardina E., Magnani M., Suppa A., Novelli G., Gambardella S.

المساهمون: Ferese, R., Campopiano, R., Scala, S., D'Alessio, C., Storto, M., Buttari, F., Centonze, D., Logroscino, G., Zecca, C., Zampatti, S., Fornai, F., Cianci, V., Manfroi, E., Giardina, E., Magnani, M., Suppa, A., Novelli, G., Gambardella, S.

مصطلحات موضوعية: Charcot-Marie-Tooth disease, diagnosi, multiple ligation dependent probe amplification, neurogenetic, next-generation sequencing

Relation: info:eu-repo/semantics/altIdentifier/pmid/34354735; info:eu-repo/semantics/altIdentifier/wos/WOS:000680474700001; volume:12; numberofpages:14; journal:FRONTIERS IN GENETICS; http://hdl.handle.net/11573/1572985; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85111932741

الاتاحة: http://hdl.handle.net/11573/1572985
https://doi.org/10.3389/fgene.2021.682050

المؤلفون: Strafella C, Caputo V, Termine A, Assogna F, Pellicano C, Pontieri FE, Macchiusi L, Minozzi G, Gambardella S, Centonze D, Bossù P, Spalletta G, Caltagirone C, Giardina E, Cascella R.

المساهمون: Strafella, C, Caputo, V, Termine, A, Assogna, F, Pellicano, C, Pontieri, Fe, Macchiusi, L, Minozzi, G, Gambardella, S, Centonze, D, Bossù, P, Spalletta, G, Caltagirone, C, Giardina, E, Cascella, R.

مصطلحات موضوعية: il6, parkinson’s disease, genetic, mirna, neuroinflammation, susceptibility, therapeutic target

Relation: info:eu-repo/semantics/altIdentifier/pmid/34149802; info:eu-repo/semantics/altIdentifier/wos/WOS:000662185700001; volume:12; firstpage:1; lastpage:12; numberofpages:12; journal:FRONTIERS IN GENETICS; http://hdl.handle.net/11573/1577391; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85108070731

الاتاحة: http://hdl.handle.net/11573/1577391
https://doi.org/10.3389/fgene.2021.651971

المؤلفون: Campopiano R., Ferese R., Buttari F., Femiano C., Centonze D., Fornai F., Biagioni F., Chiaravalloti M. A., Magnani M., Giardina E., Ruzzo A., Gambardella S.

المساهمون: Campopiano, R, Ferese, R, Buttari, F, Femiano, C, Centonze, D, Fornai, F, Biagioni, F, Chiaravalloti, Ma, Magnani, M, Giardina, E, Ruzzo, A, Gambardella, S

مصطلحات موضوعية: PNKP gene, ataxia with oculomotor apraxia, clinical exome, late onset, neurogenetics, Settore MED/26 - NEUROLOGIA

Relation: info:eu-repo/semantics/altIdentifier/pmid/32010037; info:eu-repo/semantics/altIdentifier/wos/WOS:000509888500001; volume:10; firstpage:1331; journal:FRONTIERS IN NEUROLOGY; http://hdl.handle.net/2108/239382; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85078786794; https://www.frontiersin.org/articles/10.3389/fneur.2019.01331/full

الاتاحة: http://hdl.handle.net/2108/239382
https://doi.org/10.3389/fneur.2019.01331
https://www.frontiersin.org/articles/10.3389/fneur.2019.01331/full

المؤلفون: Cerrato F., Sparago A., Ariani F., Brugnoletti F., Calzari L., Coppede F., De Luca A., Gervasini C., Giardina E., Gurrieri F., Nigro C. L., Merla G., Miozzo M., Russo S., Sangiorgi E., Sirchia S. M., Squeo G. M., Tabano S., Tabolacci E., Torrente I., Genuardi M., Neri G., Riccio A.

المساهمون: Cerrato, F., Sparago, A., Ariani, F., Brugnoletti, F., Calzari, L., Coppede, F., De Luca, A., Gervasini, C., Giardina, E., Gurrieri, F., Nigro, C. L., Merla, G., Miozzo, M., Russo, S., Sangiorgi, E., Sirchia, S. M., Squeo, G. M., Tabano, S., Tabolacci, E., Torrente, I., Genuardi, M., Neri, G., Riccio, A.

مصطلحات موضوعية: Developmental delay/intellectual disability disorder, DNA methylation, Epi-signature, Genetic testing, Hereditary tumor, High-throughput analysi, Imprinting disorder, Neuromuscular disease, Prenatal diagnosis

Relation: info:eu-repo/semantics/altIdentifier/pmid/32224912; info:eu-repo/semantics/altIdentifier/wos/WOS:000537224600081; volume:11; issue:4; firstpage:355; numberofpages:30; journal:GENES; https://hdl.handle.net/11568/1041052; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85082574850; https://www.mdpi.com/2073-4425/11/4/355

الاتاحة: https://hdl.handle.net/11568/1041052
https://doi.org/10.3390/genes11040355
https://www.mdpi.com/2073-4425/11/4/355

المؤلفون: Neri M., Rossi R., Trabanelli C., Mauro A., Selvatici R., Falzarano M. S., Spedicato N., Margutti A., Rimessi P., Fortunato F., Fabris M., Gualandi F., Comi G., Tedeschi S., Seia M., Fiorillo C., Traverso M., Bruno C., Giardina E., Piemontese M. R., Merla G., Cau M., Marica M., Scuderi C., Borgione E., Tessa A., Astrea G., Santorelli F. M., Merlini L., Mora M., Bernasconi P., Gibertini S., Sansone V., Mongini T., Berardinelli A., Pini A., Liguori R., Filosto M., Messina S., Vita G., Toscano A., Pane M., Servidei S., Pegoraro E., Bello L., Travaglini L., Bertini E., D'Amico A., Ergoli M., Politano L., Torella A., Nigro V., Mercuri E., Ferlini A.

المساهمون: Neri, M., Rossi, R., Trabanelli, C., Mauro, A., Selvatici, R., Falzarano, M. S., Spedicato, N., Margutti, A., Rimessi, P., Fortunato, F., Fabris, M., Gualandi, F., Comi, G., Tedeschi, S., Seia, M., Fiorillo, C., Traverso, M., Bruno, C., Giardina, E., Piemontese, M. R., Merla, G., Cau, M., Marica, M., Scuderi, C., Borgione, E., Tessa, A., Astrea, G., Santorelli, F. M., Merlini, L., Mora, M., Bernasconi, P., Gibertini, S., Sansone, V., Mongini, T., Berardinelli, A., Pini, A., Liguori, R., Filosto, M., Messina, S., Vita, G., Toscano, A., Pane, M., Servidei, S., Pegoraro, E., Bello, L., Travaglini, L., Bertini, E., D'Amico, A., Ergoli, M., Politano, L., Torella, A., Nigro, V., Mercuri, E., Ferlini, A.

مصطلحات موضوعية: dystrophin, exon skipping therapy, muscular dystrophy, nationwide study, read-through therapy

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/32194622; info:eu-repo/semantics/altIdentifier/wos/WOS:000524606900001; volume:11; firstpage:131; numberofpages:15; journal:FRONTIERS IN GENETICS; http://hdl.handle.net/11577/3395077; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85082726367

الاتاحة: http://hdl.handle.net/11577/3395077
https://doi.org/10.3389/fgene.2020.00131

المؤلفون: Strafella C, Caputo V, Minozzi G, Milano F, Arcangeli M, Sobhy N, Abdelmaksood R, Hashad D, Vakirlis E, Novelli G, Cascella R, Giardina E

المساهمون: Strafella, C, Caputo, V, Minozzi, G, Milano, F, Arcangeli, M, Sobhy, N, Abdelmaksood, R, Hashad, D, Vakirlis, E, Novelli, G, Cascella, R, Giardina, E

مصطلحات موضوعية: Settore MED/03 - GENETICA MEDICA

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000471880700001; journal:BIOMED RESEARCH INTERNATIONAL; http://hdl.handle.net/2108/217079; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85067812882

الاتاحة: http://hdl.handle.net/2108/217079

المؤلفون: Strafella C, Errichiello V, Caputo V, Aloe G, Ricci F, Cusumano A, Novelli G, Giardina E, Cascella R.

المساهمون: Strafella, C, Errichiello, V, Caputo, V, Aloe, G, Ricci, F, Cusumano, A, Novelli, G, Giardina, E, Cascella, R

مصطلحات موضوعية: Settore MED/03 - GENETICA MEDICA

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000465258100009; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; http://hdl.handle.net/2108/217083; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85064213274

الاتاحة: http://hdl.handle.net/2108/217083
https://doi.org/10.3390/ijms20071578

المؤلفون: Ferese R, Scala S, Suppa A, Campopiano R, Asci F, Zampogna A, Chiaravalloti MA, Griguoli A, Storto M, Pardo AD, Giardina E, Zampatti S, Fornai F, Novelli G, Fanelli M, Zecca C, Logroscino G, Centonze D, Gambardella S.

المساهمون: Ferese, R, Scala, S, Suppa, A, Campopiano, R, Asci, F, Zampogna, A, Chiaravalloti, Ma, Griguoli, A, Storto, M, Pardo, Ad, Giardina, E, Zampatti, S, Fornai, F, Novelli, G, Fanelli, M, Zecca, C, Logroscino, G, Centonze, D, Gambardella, S.

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:001129003400001; journal:FRONTIERS IN NEUROLOGY; https://hdl.handle.net/11568/1281147

الاتاحة: https://hdl.handle.net/11568/1281147
https://doi.org/10.3389/fneur.2023.1296924

المؤلفون: Graziani L., Zampatti S., Carriero M. L., Minotti C., Peconi C., Bengala M., Giardina E., Novelli G.

المساهمون: Graziani, L, Zampatti, S, Carriero, Ml, Minotti, C, Peconi, C, Bengala, M, Giardina, E, Novelli, G

مصطلحات موضوعية: Settore MED/03

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:001057048100001; volume:14; issue:8; firstpage:1; lastpage:10; numberofpages:10; journal:GENES; https://hdl.handle.net/2108/378247; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85168721029

الاتاحة: https://hdl.handle.net/2108/378247
https://doi.org/10.3390/genes14081589

المؤلفون: Strafella C., Colantoni L., Megalizzi D., Trastulli G., Piorgo E. P., Primiano G., Sancricca C., Ricci G., Siciliano G., Caltagirone C., Filosto M., Tasca G., Ricci E., Cascella R., Giardina E.

المساهمون: Strafella C., Colantoni L., Megalizzi D., Trastulli G., Piorgo E. P., Primiano G., Sancricca C., Ricci G., Siciliano G., Caltagirone C., Filosto M., Tasca G., Ricci E., Cascella R., Giardina E.

مصطلحات موضوعية: D4Z4, de novo patient, family study, FSHD, genetic counseling

Relation: info:eu-repo/semantics/altIdentifier/pmid/38041579; info:eu-repo/semantics/altIdentifier/wos/WOS:001123440200001; journal:CLINICAL GENETICS; https://hdl.handle.net/11379/591310; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85178443700

الاتاحة: https://hdl.handle.net/11379/591310
https://doi.org/10.1111/cge.14466

المؤلفون: Strafella C., Caputo V., Campoli G., Galota R. M., Mela J., Zampatti S., Minozzi G., Sancricca C., Servidei S., Giardina E., Cascella R.

المساهمون: C. Strafella, V. Caputo, G. Campoli, R.M. Galota, J. Mela, S. Zampatti, G. Minozzi, C. Sancricca, S. Servidei, E. Giardina, R. Cascella

مصطلحات موضوعية: CAPN3, Data analysi, Family history, Genetic counseling, LGMD2A, Next-generation sequencing, Recurrence/reproductive risk, Settore AGR/17 - Zootecnica Generale e Miglioramento Genetico, Settore MED/03 - Genetica Medica

Relation: info:eu-repo/semantics/altIdentifier/pmid/32397577; volume:9; issue:2; firstpage:1; lastpage:8; numberofpages:8; journal:HIGH-THROUGHPUT; http://hdl.handle.net/2434/775930; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85085395253

الاتاحة: http://hdl.handle.net/2434/775930
https://doi.org/10.3390/ht9020013

المؤلفون: Neri, M, Rossi, R, Trabanelli, C, Mauro, A, Selvatici, R, Falzarano, MS, Spedicato, N, Margutti, A, Rimessi, P, Fortunato, F, Fabris, M, Gualandi, F, Comi, G, Tedeschi, S, Seia, M, Fiorillo, C, Traverso, M, Bruno, C, Giardina, E, Piemontese, MR, Merla, G, Cau, M, Marica, M, Scuderi, C, Borgione, E, Tessa, A, Astrea, G, Santorelli, FM, Merlini, L, Mora, M, Bernasconi, P, Gibertini, S, Sansone, V, Mongini, T, Berardinelli, A, Pini, A, Liguori, R, Filosto, M, Messina, S, Vita, G, Toscano, A, Pane, M, Servidei, S, Pegoraro, E, Bello, L, Travaglini, L, Bertini, E, D'Amico, A, Ergoli, M, Politano, L, Torella, A, Nigro, V, Mercuri, E, Ferlini, A

المصدر: Frontiers in Genetics , 11 , Article 131. (2020)

مصطلحات موضوعية: dystrophin, muscular dystrophy, nationwide study, exon skipping therapy, read-through therapy

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10117429/1/fgene-11-00131.pdf; https://discovery.ucl.ac.uk/id/eprint/10117429/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10117429/1/fgene-11-00131.pdf
https://discovery.ucl.ac.uk/id/eprint/10117429/

المؤلفون: Cascella R., Strafella C., Longo G., Ragazzo M., Manzo L., De Felici C., Errichiello V., Caputo V., Viola F., Eandi C. M., Staurenghi G., Cusumano A., Mauriello S., Marsella L. T., Ciccacci C., Borgiani P., Sangiuolo F., Novelli G., Ricci F., Giardina E.

المساهمون: Cascella R., Strafella C., Longo G., Ragazzo M., Manzo L., De Felici C., Errichiello V., Caputo V., Viola F., Eandi C.M., Staurenghi G., Cusumano A., Mauriello S., Marsella L.T., Ciccacci C., Borgiani P., Sangiuolo F., Novelli G., Ricci F., Giardina E.

مصطلحات موضوعية: Age related macular degeneration, Genomic and non-genomic factor, Macula, Susceptibility

Relation: info:eu-repo/semantics/altIdentifier/pmid/29487693; volume:9; issue:8; firstpage:7812; lastpage:7821; numberofpages:10; journal:ONCOTARGET; http://hdl.handle.net/2318/1753366; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85041185162

الاتاحة: http://hdl.handle.net/2318/1753366
https://doi.org/10.18632/oncotarget.23241