MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region
Vacca, Marcella, Filippini, Francesco, Budillon, Alberta, Rossi, Valeria, Della Ragione, Floriana, De Bonis, Maria Luigia, Mercadante, Grazia, Manzati, Elisa, Gualandi, Francesca, Bigoni, Stefania, Trabanelli, Cecilia, Pini, Giorgio, Calzolari, Elisa, Ferlini, Alessandra, Meloni, Ilaria, Hayek, Giuseppe, Zappella, Michele, Renieri, Alessandra, D'Urso, Michele, D'Esposito, Maurizio, Macdonald, Fiona, Kerr, Alison, Dhanjal, Seema, Hulten, Maj
Published in Brain & development (Tokyo. 1979) (01.12.2001)
Published in Brain & development (Tokyo. 1979) (01.12.2001)
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Conference Proceeding
Antisense-induced messenger depletion corrects a COL6A2 dominant mutation in Ullrich myopathy
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Published in Human gene therapy (01.12.2012)
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Melanocytes-A novel tool to study mitochondrial dysfunction in Duchenne muscular dystrophy
Pellegrini, Camilla, Zulian, Alessandra, Gualandi, Francesca, Manzati, Elisa, Merlini, Luciano, Michelini, Maria E., Benassi, Luisa, Marmiroli, Sandra, Ferlini, Alessandra, Sabatelli, Patrizia, Bernardi, Paolo, Maraldi, Nadir M.
Published in Journal of cellular physiology (01.06.2013)
Published in Journal of cellular physiology (01.06.2013)
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Nonspecific cation current associated with native polycystin-2 in HEK-293 cells
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Published in Journal of the American Society of Nephrology (01.02.2006)
Published in Journal of the American Society of Nephrology (01.02.2006)
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Deficiency of polycystin-2 reduces Ca2+ channel activity and cell proliferation in ADPKD lymphoblastoid cells
Aguiari, Gianluca, Banzi, Manuela, Gessi, Stefania, Cai, Yiqiang, Zeggio, Emanuela, Manzati, Elisa, Piva, Roberta, Lambertini, Elisabetta, Ferrari, Luisa, Peters, Dorien J, Lanza, Francesco, Harris, Peter C, Borea, Pier Andrea, Somlo, Stefan, Del Senno, Laura
Published in The FASEB journal (01.05.2004)
Published in The FASEB journal (01.05.2004)
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Corrigendum to “MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region” [Brain Dev 2001; 23: S246–50]
Vacca, Marcella, Filippini, Francesco, Budillon, Alberta, Rossi, Valeria, Ragione, Floriana Della, De Bonis, Maria Luigia, Mercadante, Grazia, Manzati, Elisa, Gualandi, Francesca, Bigoni, Stefania, Trabanelli, Cecilia, Pini, Giorgio, Calzolari, Elisa, Ferlini, Alessandra, Meloni, Ilaria, Hayek, Giuseppe, Zappella, Michele, Renieri, Alessandra, D’Urso, Michele, D’Esposito, Maurizio, Macdonald, Fiona, Kerr, Alison, Dhanjal, Seema, Hulten, Maj
Published in Brain & development (Tokyo. 1979) (01.11.2012)
Published in Brain & development (Tokyo. 1979) (01.11.2012)
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The cytoplasmic C-terminus of polycystin-1 increases cell proliferation in kidney epithelial cells through serum-activated and Ca2+-dependent pathway(s)
Manzati, Elisa, Aguiari, Gianluca, Banzi, Manuela, Manzati, Michele, Selvatici, Rita, Falzarano, Sofia, Maestri, Iva, Pinton, Paolo, Rizzuto, Rosario, del Senno, Laura
Published in Experimental cell research (01.04.2005)
Published in Experimental cell research (01.04.2005)
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The cytoplasmic C-terminus of polycystin-1 increases cell proliferation in kidney epithelial cells through serum-activated and Ca(2+)-dependent pathway(s)
Manzati, Elisa, Aguiari, Gianluca, Banzi, Manuela, Manzati, Michele, Selvatici, Rita, Falzarano, Sofia, Maestri, Iva, Pinton, Paolo, Rizzuto, Rosario, del Senno, Laura
Published in Experimental cell research (01.04.2005)
Published in Experimental cell research (01.04.2005)
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Expression of polycystin-1 C-terminal fragment enhances the ATP-induced Ca2+ release in human kidney cells
Aguiari, Gianluca, Campanella, Michelangelo, Manzati, Elisa, Pinton, Paolo, Banzi, Manuela, Moretti, Sabrina, Piva, Roberta, Rizzuto, Rosario, del Senno, Laura
Published in Biochemical and biophysical research communications (14.02.2003)
Published in Biochemical and biophysical research communications (14.02.2003)
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The cytoplasmic C-terminus of polycystin-1 increases cell proliferation in kidney epithelial cells through serum-activated and Ca 2+-dependent pathway(s)
Manzati, Elisa, Aguiari, Gianluca, Banzi, Manuela, Manzati, Michele, Selvatici, Rita, Falzarano, Sofia, Maestri, Iva, Pinton, Paolo, Rizzuto, Rosario, del Senno, Laura
Published in Experimental cell research (2005)
Published in Experimental cell research (2005)
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Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females
VACCA, 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, Giorgio
Published in Journal of molecular medicine (Berlin, Germany) (01.01.2001)
Published in Journal of molecular medicine (Berlin, Germany) (01.01.2001)
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Expression of polycystin-1 C-terminal fragment enhances the ATP-induced Ca 2+ release in human kidney cells
Aguiari, Gianluca, Campanella, Michelangelo, Manzati, Elisa, Pinton, Paolo, Banzi, Manuela, Moretti, Sabrina, Piva, Roberta, Rizzuto, Rosario, del Senno, Laura
Published in Biochemical and biophysical research communications (2003)
Published in Biochemical and biophysical research communications (2003)
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K562 Erythroid and HL60 Macrophage Differentiation Downregulates Polycystin, a Large Membrane-Associated Protein
Aguiari, Gianluca, Piva, Roberta, Manzati, Elisa, Mazzoni, Elisa, Augello, Giuseppina, Chiari, Elisabetta, Moretti, Sabrina, Neri, Luca Maria, del Senno, Laura
Published in Experimental cell research (10.10.1998)
Published in Experimental cell research (10.10.1998)
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Mutations in autosomal dominant polycystic kidney disease 2 gene: Reduced expression of PKD2 protein in lymphoblastoid cells
Aguiari, G, Manzati, E, Penolazzi, L, Micheletti, F, Augello, G, Vitali, E D, Cappelli, G, Cai, Y, Reynolds, D, Somlo, S, Piva, R, del Senno, L
Published in American journal of kidney diseases (01.05.1999)
Published in American journal of kidney diseases (01.05.1999)
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