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Material Type: Artigo
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Duchenne muscular dystrophy and epilepsyPane, M ; Messina, S ; Bruno, C ; D’Amico, A ; Villanova, M ; Brancalion, B ; Sivo, S ; Bianco, F ; Striano, P ; Battaglia, D ; Lettori, D ; Vita, G.L ; Bertini, E ; Gualandi, F ; Ricotti, V ; Ferlini, A ; Mercuri, ENeuromuscular disorders : NMD, 2013-04, Vol.23 (4), p.313-315 [Periódico revisado por pares]England: Elsevier B.VTexto completo disponível |
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Material Type: Artigo
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Co-ultramicronized Palmitoylethanolamide/Luteolin in the Treatment of Cerebral Ischemia: from Rodent to ManCaltagirone, Carlo ; Cisari, Carlo ; Schievano, Carlo ; Di Paola, Rosanna ; Cordaro, Marika ; Bruschetta, Giuseppe ; Esposito, Emanuela ; Cuzzocrea, SalvatoreTranslational stroke research, 2016-02, Vol.7 (1), p.54-69 [Periódico revisado por pares]New York: Springer USTexto completo disponível |
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3 |
Material Type: Artigo
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Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disordersTravaglini, Lorena ; Brancati, Francesco ; Silhavy, Jennifer ; Iannicelli, Miriam ; Nickerson, Elizabeth ; Elkhartoufi, Nadia ; Scott, Eric ; Spencer, Emily ; Gabriel, Stacey ; Thomas, Sophie ; Ben-Zeev, Bruria ; Bertini, Enrico ; Boltshauser, Eugen ; Chaouch, Malika ; Cilio, Maria Roberta ; de Jong, Mirjam M ; Kayserili, Hulya ; Ogur, Gonul ; Poretti, Andrea ; Signorini, Sabrina ; Uziel, Graziella ; Zaki, Maha S ; Johnson, Colin ; Attié-Bitach, Tania ; Gleeson, Joseph G ; Valente, Enza MariaEuropean journal of human genetics : EJHG, 2013-10, Vol.21 (10), p.1074-1078 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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4 |
Material Type: Artigo
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Brody Disease: Insights Into Biochemical Features of SERCA1 and Identification of a Novel MutationVattemi, Gaetano ; Gualandi, Francesca ; Oosterhof, Arie ; Marini, Matteo ; Tonin, Paola ; Rimessi, Paola ; Neri, Marcella ; Guglielmi, Valeria ; Russignan, Anna ; Poli, Consuelo ; van Kuppevelt, Toin H ; Ferlini, Alessandra ; Tomelleri, GiulianoJournal of neuropathology and experimental neurology, 2010-03, Vol.69 (3), p.246-252 [Periódico revisado por pares]Hagerstown, MD: American Association of Neuropathologists, IncTexto completo disponível |
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5 |
Material Type: Artigo
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Calpain 3 deficiency presenting as fibre type disproportionVattemi, G. ; Tonin, P. ; Neri, M. ; Marini, M. ; Gualandi, F. ; Guglielmi, V. ; Ferlini, A. ; Tomelleri, G.Neuropathology and applied neurobiology, 2009-11, Vol.35 (6), p.614-617 [Periódico revisado por pares]Oxford, UK: Blackwell Publishing LtdTexto completo disponível |
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6 |
Material Type: Artigo
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Mutation analysis of the MECP2 gene in British and Italian Rett syndrome femalesVACCA, Marcella ; FILIPPINI, Francesco ; CALZOLARI, Elisa ; FERLINI, Alessandra ; MELONI, Ilaria ; HAYEK, Giuseppe ; ZAPPELLA, Michele ; RENIERI, Alessandra ; D'URSO, Michele ; D'ESPOSITO, Maurizio ; MACDONALD, Fiona ; KERR, Alison ; BUDILLON, Alberta ; DHANJAL, Seema ; HULTEN, Maj ; ROSSI, Valeria ; MERCADANTE, Grazia ; MANZATI, Elisa ; GUALANDI, Francesca ; BIGONI, Stefania ; TRABANELLI, Cecilia ; PINI, GiorgioJournal of molecular medicine (Berlin, Germany), 2001-01, Vol.78 (11), p.648-655 [Periódico revisado por pares]Berlin: SpringerTexto completo disponível |
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7 |
Material Type: Artigo
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Is there selection in favour of heterozygotes in families with merosin-deficient congenital muscular dystrophy?D'ALESSANDRO, M ; NAOM, I ; FERLINI, A ; SEWRY, C ; DUBOWITZ, V ; MUNTONI, FHuman genetics, 1999-10, Vol.105 (4), p.308-313 [Periódico revisado por pares]Heidelberg: SpringerTexto completo disponível |
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8 |
Material Type: Artigo
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Expression of Laminin Chains in Skin in Merosin-Deficient Congenital Muscular DystrophySewry, C. A. ; D'Alessandro, M. ; Wilson, L A. ; Sorokin, L. M. ; Naom, I. ; Bruno, S. ; Ferlini, A. ; Dubowitz, V. ; Muntoni, F.Neuropediatrics, 1997-08, Vol.28 (4), p.217-222 [Periódico revisado por pares]Stuttgart: ThiemeTexto completo disponível |
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9 |
Material Type: Artigo
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The role of immunocytochemistry and linkage analysis in the prenatal diagnosis of merosin-deficient congenital muscular dystrophyNAOM, I ; D'ALESSANDRO, M ; MUNTONI, F ; SEWRY, C ; FERLINI, A ; TOPALOGLU, H ; HELBLING-LECLERC, A ; GUICHENEY, P ; SCHWARTZ, K ; AKCOREN, Z ; DUBOWITZ, VHuman genetics, 1997-04, Vol.99 (4), p.535-540 [Periódico revisado por pares]Heidelberg: SpringerTexto completo disponível |