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1دورية أكاديمية
المؤلفون: Johari M., Sarparanta J., Vihola A., Jonson P. H., Savarese M., Jokela M., Torella A., Piluso G., Said E., Vella N., Cauchi M., Magot A., Magri F., Mauri E., Kornblum C., Reimann J., Stojkovic T., Romero N. B., Luque H., Huovinen S., Lahermo P., Donner K., Comi G. P., Nigro V., Hackman P., Udd B.
المساهمون: M. Johari, J. Sarparanta, A. Vihola, P.H. Jonson, M. Savarese, M. Jokela, A. Torella, G. Piluso, E. Said, N. Vella, M. Cauchi, A. Magot, F. Magri, E. Mauri, C. Kornblum, J. Reimann, T. Stojkovic, N.B. Romero, H. Luque, S. Huovinen, P. Lahermo, K. Donner, G.P. Comi, V. Nigro, P. Hackman, B. Udd
مصطلحات موضوعية: Amyloidogenesi, Distal myopathy, Proteinopathy, Stress granule, X-linked, Settore MED/26 - Neurologia
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33974137; info:eu-repo/semantics/altIdentifier/wos/WOS:000649212400001; volume:142; issue:2; firstpage:375; lastpage:393; numberofpages:19; journal:ACTA NEUROPATHOLOGICA; http://hdl.handle.net/2434/857385Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85105876006
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2دورية أكاديمية
المؤلفون: Sarparanta, J., Jonson, P., Luque, H., Vihola, A., Udd, B.
المصدر: Neuromuscular Disorders ; volume 31, page S71 ; ISSN 0960-8966
مصطلحات موضوعية: Genetics (clinical), Neurology (clinical), Neurology, Pediatrics, Perinatology and Child Health
الإتاحة: https://doi.org/10.1016/j.nmd.2021.07.098Test
https://api.elsevier.com/content/article/PII:S0960896621002856?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0960896621002856?httpAccept=text/plainTest -
3دورية أكاديمية
المؤلفون: Savarese, M., Johari, M., Vihola, A., Luque, H., Iacomino, M., Hackman, P., Udd, B.
المصدر: Neuromuscular Disorders ; volume 31, page S161 ; ISSN 0960-8966
مصطلحات موضوعية: Genetics (clinical), Neurology (clinical), Neurology, Pediatrics, Perinatology and Child Health
الإتاحة: https://doi.org/10.1016/j.nmd.2021.07.391Test
https://api.elsevier.com/content/article/PII:S0960896621005782?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0960896621005782?httpAccept=text/plainTest -
4دورية أكاديمية
المؤلفون: Jonson, P., Sarparanta, J., Rusanen, S., Sagath, L., Kiiski, K., Luque, H., Gunnarsson, C., Danielsson, O., Hackman, P., Udd, B.
المصدر: Neuromuscular Disorders ; volume 33, page S140 ; ISSN 0960-8966
مصطلحات موضوعية: Genetics (clinical), Neurology (clinical), Neurology, Pediatrics, Perinatology and Child Health
الإتاحة: https://doi.org/10.1016/j.nmd.2023.07.294Test
https://api.elsevier.com/content/article/PII:S0960896623004741?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0960896623004741?httpAccept=text/plainTest -
5دورية أكاديمية
المؤلفون: Sarparanta, J., Jonson, P., Luque, H., Zacchini, C., Hackman, P., Udd, B.
المصدر: Neuromuscular Disorders ; volume 33, page S140-S141 ; ISSN 0960-8966
مصطلحات موضوعية: Genetics (clinical), Neurology (clinical), Neurology, Pediatrics, Perinatology and Child Health
الإتاحة: https://doi.org/10.1016/j.nmd.2023.07.296Test
https://api.elsevier.com/content/article/PII:S0960896623004765?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0960896623004765?httpAccept=text/plainTest -
6
المؤلفون: Albamonte, E., Coratti, G., Salmin, F., Zanolini, A., Pane, M., Pera, MC., Leone, D., Antonaci, L., D’Amico, A., Catteruccia, M., Bertini, E., Bruno, C., Brolatti, N., Messina, S., Sframeli, M., Piras, R., Mercuri, E., Sansone, V.A., Bonanno, S., Giossi, R., Zanin, R., Porcelli, V., Ingenito, G., Stevic, Z., Peric, S., Maggi, L., Darras, B.T., Masson, R., Mazurkiewicz-Bełdzińska, M., Rose, K., Xiong, H., Zanoteli, E., Baranello, G., Vlodavets, D., Dodman, A., El-Khairi, M., Gerber, M., Gorni, K., Kletzl, H., Scalco, R.S., Servais, L., Bello, L., Govoni, A., Caponnetto, C., Grisanti, S.G., Passamano, L., Grandis, M., Nicocia, G., Trojsi, F., Cerri, F., Gardani, A., Risi, B., Gadaleta, G., Ferraro, M., Bozzoni, V., Caumo, L., Tanel, R., Saccani, E., Meneri, M., Vacchiano, V., Ricci, G., Sorarù, G., D’Errico, E., Maioli, M.A., Tramacere, I., Bortolani, S., Pavesi, G., Silvestrini, M., Politano, L., Schenone, A., Previtali, S.C., Berardinelli, A., Turri, M., Verriello, L., Coccia, M., Mantegazza, R., Liguori, R., Filosto, M., Marrosu, G., Siciliano, G., Simone, I.L., Mongini, T., Comi, G.P., Pegoraro, E., Mercante, A., Perilongo, G., Salamon, E., Santini, A., Benini, F., Agosto, C., Cotti Piccinelli, S., Pilotto, A., Cristillo, V., Schiano di Cola, F., Bonzi, G., Mazzola, M., Padovani, A., Nuredini, A., Taiana, M., Nizzardo, M., Mari, F., Cesaroni, E., Porfiri, L., Tiziano, D., Vita, G.L., Merico, E., Schirinzi, E., Ramos, J.A.F., Ostrowska, I., Piontek, M., Corti, S., Miller, W., Shieh, P.B., Kuntz, N., Dowling, J.J., Müller-Felber, W., Blaschek, A., Bönnemann, C.G., Foley, A.R., Saade, D.N., Seferian, A.M., Lawlor, M.W., Noursalehi, M., Prasad, S., Rico, S., Rodino-Klapac, L.R., Pozsgai, E.R., Lewis, S., Griffin, D.A., Meadows, A.S., Lehman, K.J., Church, K., Reash, N.F., Iammarino, M.A., Powers, B., Alfano, L.N., Lowes, L.P., Koenig, E., Neuhaus, S., Li, X., Picaro, L., Mendell, J.R., Tonacci, A., Torri, F., Aringhieri, G., Sansone, F., Rubegni, A., Santorelli, F.M., Conte, R., Riguzzi, P., Zangaro, V., Villa, F.M., Cestarollo, M., Savarese, M., Johari, M., Vihola, A., Luque, H., Hackman, P., Udd, B., Bianchi, F., Fortunato, F., Giannini, F., Malandrini, A., Silani, V., Ticozzi, N., Fenu, S., Peduto, C., D’Ambrosio, P., Primiano, G., Sancricca, C., Sciacco, M., Brusa, R., Solero, L., Brusa, C., Cateruccia, M., Diodado, D., Pugliese, A., Ferlini, A., Monastra, F.M., Blasevich, F., Bragato, C., Marinella, G., Buchignani, B., Astrea, G., Cassandrini, D., Donati, M.A., Gallone, S., Lopergolo, D., Maioli, MA., Magri, F., Mandich, P., Massa, R., Matà, S., Moggio, M., Mongini, T.E., Ricci, F., Rodolico, C., Sperti, M., Ticci, C., Tonin, P., Battini, R., Panicucci, C., Pedemonte, M., Casalini, E., Minetti, C., Maghnie, M., Di Iorgi, N., Sabbatini, D., Vianello, S., Fusto, A., Merlo, B., Parravicini, S., Travaglioni, L., D’Angelo, G., Di Bari, A., Canioni, E., Gallone, A., Picillo, E., Nigro, V., Trucco, F., Ridout, D., Maresh, K., Chesshyre, M., Munot, P., Sarkozy, A., Robb, S., Quinlivan, R., Riley, M., Wallis, C., Chan, E., Abel, F., De Lucia, S., Hogrel, J.-Y., Niks, E.H., de Groot, H., Straub, V., Ricotti, V., Manzur, A., Muntoni, F., Frosini, S., LoMauro, A., Diella, E., Russo, A., Delle Fave, M., Pistininzi, C., Marchi, E., Pascuzzo, R., Vantini, S., Aliverti, A., D’Angelo, M.G., Garibaldi, M., Iacono, S., Di Stefano, V., Lupica, A., Gagliardo, A., Lanza, P., Rispoli, M.G., Ferri, L., Brighina, F., Di Muzio, A., Frangiamore, R., Antozzi, C., Baggi, F., Onore, M.E., Torella, A., Musacchia, F., Del Vecchio Blanco, F., Zanobio, M., Piluso, G., Poggetti, F., Ripolone, M., Zanotti, S., Caputo, V., Megalizzi, D., Bax, C., Ranieri, M., Colantoni, L., Tasca, G., Ricci, E., Caltagirone, C., Cascella, R., Giardina, E., Strafella, C., Lai, E., Marcello, M., Morotti, I., Caremani, M., Conte, I., Linari, M., Raffaghello, L., Principi, E., Baratto, S., Pintus, S., Antonini, F., Del Zotto, G., Bruzzone, S., Scudieri, P., Gazzerro, E., Ronchi, D., Lucchiari, S., Garbellini, M., Salani, S., Ciscato, P., Bresolin, N., Zeuli, R., Varavallo, A., Angelini, C., Brunetti-Pierri, N., Wischmeijer, A., Labella, B., Pezzini, D., Costa, A., Poli, L., Magoni, M., Manini, A., Velardo, D., Cinnante, C.M., Marija, M., Janez, Z., Traverso, M., Pini, A., Giannotta, M., Valentino, M.L., Scala, M., Zara, F., Fiorillo, C., Antognozzi, S., Napoli, L., Scuvera, G., Giacobbe, A., Milani, D., Rolle, E., Rossi, F., Cavallina, I., D’Alessandro, R., Urbano, G., Ricci, F, Peruzzo, D., Ciceri, T., Mascheretti, S., Lampis, V., Arrigoni, F., Giubergia, A., Crippa, A., Nobile, M., Mani, E., Falzarano, M.S., Mietto, M., Rossi, R., Selvatici, R., Gessi, M., Montanaro, F., Morgan, J., Muntoni, F, Lanzi, G., Galvagni, A., Romani, C., Gerevini, S., Selicorni, A., Ajdinaj, P., Montrasio, S., Cazzaniga, S., Bettica, P.U., Mastellaro, S., Romano, F., Napoli, M.M., Barbone, F., De Rosa, M.A., Angelucci, D., Andreassi, G., Amatetti, M., Amerio, P., Altamura, C., Farinato, A., Campanale, C., Carratù, M.R., Desaphy, J.-F., Brugnoni, R., Rossi, T., Canavese, C., Eoli, M., Lauria, G., Toscano, A., DiDuca, M., Campana, C., Cataldi, M., Greco, G., Frezza, E., Goglia, M., Boffa, L., Pignolo, A., Quartana, M., Fierro, B., Musumeci, S.A., Scarsi, E., Cella, A., Narciso, E., Cabona, C., Beronio, A., Assini, A., Del Sette, M., Bandini, F., Benedetti, L., Prada, V., Torre, E., Missaglia, S., Tavian, D., Baldelli, E., Caria, F., Ferrari Aggradi, C.R., Falcier, E., Lizio, A., Pirola, A., Casiraghi, J., Carraro, E., Mauro, L., Rao, F., Roma, E., Iannello, A., De Mattia, E., Barp, A., Lupone, S., Gatti, V., Italiano, C., Frisoni, M.C., Ferrari-Aggradi, C.R., Refran, J., Becchiati, S., Iossa, F., Eichinger, K., Dekdebrun, J., St Romain, J., Johnson, N., Thornton, C., Leali, M., Aimo, A., Todiere, G., Vergaro, G., Grigoratos, C., Giannoni, A., Baldinotti, F., Aquaro, G.D., Emdin, M., Passino, C., Barison, A., Gibertini, S., Iannibelli, E., Mora, M., Ruggieri, A., Scutifero, M., Palladino, A., Spiro Santovito, L., Pasanisi, B., Nesti, C., Bartolini, M., Tarabelloni, A., Tizzoni, F., Colombo, P., Tesei, A., Molteni, M., Falzone, Y., Chico, L., Caligo, M.A., D’Apice, M.R., Mantegazza, R.E., Pegolo, E., Cibin, F., Sawacha, Z., Giagnorio, E., Malacarne, C., Salvi, E., Bossolasco, P., Bardelli, D., Ratti, A., Marcuzzo, S., Melzi, V., Rizzuti, M., Gagliardi, D., Masrori, P., Biella, F., Van Damme, P., Musso, G., Cosma, C., Plebani, M., Neri, M., Sette, E., Trabanelli, C., Margutti, A., Rimessi, P., Fabris, M., Tugnoli, V., Gualandi, F., Paoletti, M., Diamanti, L., Muzic, S.I., Ballante, E., Solazzo, F., Foppoli, L., Deligianni, X., Santini, S., Figini, S., Bergsland, N., Pichiecchio, A., Pilla, F., Ianes, P.G., Casagrande, S., Gasperini, B., Zuccarino, R., Bersani, M., Pagliari, E., Saccomanno, D., Cattaneo, C., Lops, J., Pera, M.C., Palazzo, G., Scarpini, G., Not, R., Capelli, P., Testoni, C., Pisani, F., Piccolo, B., Fusco, C., Frattini, D., Vergine, G., Farina, M., Sarajlia, J., Marchetti, F., Piccinini, G.
المصدر: Acta Myologica
مصطلحات موضوعية: Session 2, Session 1, MUSCLE CLUB SESSION: (in alphabetical order of the first Author), ABSTRACTS OF POSTER COMMUNICATIONS: (in alphabetical order of the first Author), Proceedings of the XXI congress of the italian association of myology, ABSTRACTS OF ORAL COMMUNICATIONS: (in alphabetical order of the first Author), Session 5, Session 4, Session 3
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmc_________::cc20b5f2e1c8b4b118a3c86c48d1857dTest
http://europepmc.org/articles/PMC8694696Test -
7دورية أكاديمية
المؤلفون: Vihola, A., Luque, H., Savarese, M., Penttilä, S., Lindfors, M., Leturcq, F., Eymard, B., Tasca, G., Brais, B., Conte, T., Charton, K., Richard, I., Udd, B.
المساهمون: Lääketieteen ja biotieteiden tiedekunta - Faculty of Medicine and Life Sciences, University of Tampere
مصطلحات موضوعية: ANO5, DMM3, LGMD2L, Limb-Girdle Muscular Dystrophy, Lääketieteen bioteknologia - Medical biotechnology
وصف الملف: fulltext; 441-448
العلاقة: Neuropathology and Applied Neurobiology; 44; https://trepo.tuni.fi/handle/10024/104116Test; URN:NBN:fi:uta-201808242385
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8دورية أكاديمية
المؤلفون: Hackman, P, Sarparanta, J, Lehtinen, S, Vihola, A, Evila, A, Jonson, PH, Luque, H, Kere, J, Screen, M, Chinnery, PF, Ahlberg, G, Edstrom, L, Udd, B
المصدر: Annals of neurology. 73(4):500-509
مصطلحات موضوعية: Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik, Klinisk medicin, Neurologi
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9دورية أكاديمية
المؤلفون: Sarparanta, J., Jonson, P., Vihola, A., Luque, H., Vainio, A., Villar-Quiles, R., Stojkovic, T., Romero, N., Eymard, B., Udd, B.
المصدر: Neuromuscular Disorders ; volume 32, page S110-S111 ; ISSN 0960-8966
مصطلحات موضوعية: Genetics (clinical), Neurology (clinical), Neurology, Pediatrics, Perinatology and Child Health
الإتاحة: https://doi.org/10.1016/j.nmd.2022.07.285Test
https://api.elsevier.com/content/article/PII:S0960896622004874?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0960896622004874?httpAccept=text/plainTest -
10دورية أكاديمية
المؤلفون: Sarparanta, J., Jonson, P., Vihola, A., Luque, H., Brady, S., Udd, B.
المصدر: Neuromuscular Disorders ; volume 32, page S110 ; ISSN 0960-8966
مصطلحات موضوعية: Genetics (clinical), Neurology (clinical), Neurology, Pediatrics, Perinatology and Child Health
الإتاحة: https://doi.org/10.1016/j.nmd.2022.07.282Test
https://api.elsevier.com/content/article/PII:S0960896622004849?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0960896622004849?httpAccept=text/plainTest