A CASQ1 founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia von Di Blasi, Claudia, Sansanelli, Serena, Ruggieri, Alessandra, Moriggi, Manuela, Vasso, Michele, D'Adamo, Adamo Pio, Blasevich, Flavia, Zanotti, Simona, Paolini, Cecilia, Protasi, Feliciano, Tezzon, Frediano, Gelfi, Cecilia, Morandi, Lucia, Pessia, Mauro, Mora, Marina

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Two ABCB4 point mutations of strategic NBD-motifs do not prevent protein targeting to the plasma membrane but promote MDR3 dysfunction von Degiorgio, Dario, Corsetto, Paola A, Rizzo, Angela M, Colombo, Carla, Seia, Manuela, Costantino, Lucy, Montorfano, Gigliola, Tomaiuolo, Rossella, Bordo, Domenico, Sansanelli, Serena, Li, Min, Tavian, Daniela, Rastaldi, Maria P, Coviello, Domenico A

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A novel homozygous ISPD gene mutation causing phenotype variability in a consanguineous family von Baranello, Giovanni, Saredi, Simona, Sansanelli, Serena, Savadori, Paolo, Canioni, Eleonora, Chiapparini, Luisa, Balestri, Paolo, Malandrini, Alessandro, Arnoldi, Maria Teresa, Pantaleoni, Chiara, Morandi, Lucia, Mora, Marina

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Association of a variant in the CHRNA5-A3-B4 gene cluster region to heavy smoking in the Italian population von SORICE, Rossella, BIONE, Silvia, GASPARINI, Paolo, CIULLO, Marina, TONIOLO, Daniela, SANSANELLI, Serena, ULIVI, Sheila, ATHANASAKIS, Emmanouil, LANZARA, Carmela, NUTILE, Teresa, SALA, Cinzia, CAMASCHELLA, Clara, D'ADAMO, Pio

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