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1 |
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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2 |
Material Type: Artigo
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Cell cycle checkpoint efficiency and cellular response to paclitaxel in prostate cancer cellsLanzi, Cinzia ; Cassinelli, Giuliana ; Cuccuru, Giuditta ; Supino, Rosanna ; Zuco, Valentina ; Ferlini, Cristiano ; Scambia, Giovanni ; Zunino, FrancoThe Prostate, 2001-09, Vol.48 (4), p.254-264 [Periódico revisado por pares]New York: John Wiley & Sons, IncTexto completo disponível |
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3 |
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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4 |
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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5 |
Material Type: Artigo
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Mutations in the laminin α2-chain gene in two children with early-onset muscular dystrophyNaom, I. ; D'alessandro, M. ; Sewry, C. A. ; Jardine, Philip ; Ferlini, A. ; Moss, Tim ; Dubowitz, V. ; Muntoni, F.Brain (London, England : 1878), 2000-01, Vol.123 (1), p.31-41 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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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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7 |
Material Type: Artigo
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Refinement of the laminin α2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophyNAOM, I. S ; D'ALESSANDRO, M ; PHILPOT, J ; DUBOWITZ, V ; MUNTONI, F ; TOPALOGLU, H ; SEWRY, C ; FERLINI, A ; HELBLING-LECLERC, A ; GUICHENEY, P ; WEISSENBACH, J ; SCHWARTZ, K ; BUSHBY, KJournal of medical genetics, 1997, Vol.34 (2), p.99-104 [Periódico revisado por pares]London: BMJTexto completo disponível |
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8 |
Material Type: Artigo
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Mutation and transcription analysis of transthyretin gene in Italian families with hereditary amyloidosis: a putative novel 'hot spot' in codon 47Ferlini, A ; Obici, L ; Manzati, E ; Biadi, O ; Tarantino, E ; Conigli, P ; Merlini, G ; D'alessandro, M ; Mazzaferro, V ; Tassinari, Ca ; Salvi, FClinical genetics, 2000-04, Vol.57 (4), p.284-290 [Periódico revisado por pares]Copenhagen: Munksgaard International PublishersTexto completo disponível |
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9 |
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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10 |
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 |