SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22–q11.2
Cagnoli, Claudia, Mariotti, Caterina, Taroni, Franco, Seri, Marco, Brussino, Alessandro, Michielotto, Chiara, Grisoli, Marina, Di Bella, Daniela, Migone, Nicola, Gellera, Cinzia, Di Donato, Stefano, Brusco, Alfredo
Published in Brain (London, England : 1878) (01.01.2006)
Published in Brain (London, England : 1878) (01.01.2006)
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Journal Article
Mutations in the gene encoding the latency-associated peptide of TGF-β1 cause Camurati-Engelmann disease
Van Hul, Wim, Janssens, Katrien, Gershoni-Baruch, Ruth, Guañabens, Nuria, Migone, Nicola, Ralston, Stuart, Bonduelle, Maryse, Lissens, Willy, Van Maldergem, Lionel, Vanhoenacker, Filip, Verbruggen, Leon
Published in Nature genetics (01.11.2000)
Published in Nature genetics (01.11.2000)
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Journal Article
The SH3 Domains of Endophilin and Amphiphysin Bind to the Proline-rich Region of Synaptojanin 1 at Distinct Sites That Display an Unconventional Binding Specificity
Cestra, Gianluca, Castagnoli, Luisa, Dente, Luciana, Minenkova, Olga, Petrelli, Annalisa, Migone, Nicola, Hoffmüller, Ulrich, Schneider-Mergener, Jens, Cesareni, Gianni
Published in The Journal of biological chemistry (05.11.1999)
Published in The Journal of biological chemistry (05.11.1999)
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Journal Article
Detection of Large Pathogenic Expansions in FRDA1, SCA10, and SCA12 Genes Using a Simple Fluorescent Repeat-Primed PCR Assay
Cagnoli, Claudia, Michielotto, Chiara, Matsuura, Tohru, Ashizawa, Tetsuo, Margolis, Russell L., Holmes, Susan E., Gellera, Cinzia, Migone, Nicola, Brusco, Alfredo
Published in The Journal of molecular diagnostics : JMD (01.05.2004)
Published in The Journal of molecular diagnostics : JMD (01.05.2004)
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Journal Article
Polycystin-1 expression in PKD1, early-onset PKD1, and TSC2/PKD1 cystic tissue
Ong, Albert C.M., Harris, Peter C., Davies, David R., Pritchard, Lynn, Rossetti, Sandro, Biddolph, Simon, Vaux, David J.T., Migone, Nicola, Ward, Christopher J.
Published in Kidney international (01.10.1999)
Published in Kidney international (01.10.1999)
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Conference Proceeding
9q34 loss of heterozygosity in a tuberous sclerosis astrocytoma suggests a growth suppressor-like activity also for the TSC1 gene
Carbonara, C, Longa, L, Grosso, E, Borrone, C, Garrè, M G, Brisigotti, M, Migone, N
Published in Human molecular genetics (01.10.1994)
Published in Human molecular genetics (01.10.1994)
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Journal Article
Analysis of SCA8 and SCA12 loci in 134 Italian ataxic patients negative for SCA1-3, 6 and 7 CAG expansions
Brusco, Alfredo, Cagnoli, Claudia, Franco, Alessandra, Dragone, Elisa, Nardacchione, Antonella, Grosso, Enrico, Mortara, Paolo, Mutani, Roberto, Migone, Nicola, Orsi, Laura
Published in Journal of neurology (01.07.2002)
Published in Journal of neurology (01.07.2002)
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Journal Article
Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings
Dufner Almeida, Luiz G., Nanhoe, Santoesha, Zonta, Andrea, Hosseinzadeh, Mitra, Kom‐Gortat, Regina, Elfferich, Peter, Schaaf, Gerben, Kenter, Annegien, Kümmel, Daniel, Migone, Nicola, Povey, Sue, Ekong, Rosemary, Nellist, Mark
Published in Human mutation (01.04.2020)
Published in Human mutation (01.04.2020)
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Journal Article
The endophilin-CIN85-Cbl complex mediates ligand-dependent downregulation of c-Met
Giordano, Silvia, Petrelli, Annalisa, Gilestro, Giorgio F, Lanzardo, Stefania, Comoglio, Paolo M, Migone, Nicola
Published in Nature (London) (14.03.2002)
Published in Nature (London) (14.03.2002)
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Journal Article
Missense mutations in the AFG3L2 proteolytic domain account for ~1.5% of European autosomal dominant cerebellar ataxias
Cagnoli, Claudia, Stevanin, Giovanni, Brussino, Alessandro, Barberis, Marco, Mancini, Cecilia, Margolis, Russell L, Holmes, Susan E, Nobili, Marcello, Forlani, Sylvie, Padovan, Sergio, Pappi, Patrizia, Zaros, Cécile, Leber, Isabelle, Ribai, Pascale, Pugliese, Luisa, Assalto, Corrado, Brice, Alexis, Migone, Nicola, Dürr, Alexandra, Brusco, Alfredo
Published in Human mutation (01.10.2010)
Published in Human mutation (01.10.2010)
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Journal Article
Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis
Ekong, Rosemary, Nellist, Mark, Hoogeveen-Westerveld, Marianne, Wentink, Marjolein, Panzer, Jessica, Sparagana, Steven, Emmett, Warren, Dawson, Natalie L., Malinge, Marie Claire, Nabbout, Rima, Carbonara, Caterina, Barberis, Marco, Padovan, Sergio, Futema, Marta, Plagnol, Vincent, Humphries, Steve E., Migone, Nicola, Povey, Sue
Published in Human mutation (01.04.2016)
Published in Human mutation (01.04.2016)
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Journal Article
Missense mutations in the AFG3L2 proteolytic domain account for similar to 1.5% of European autosomal dominant cerebellar ataxias
Cagnoli, Claudia, Stevanin, Giovanni, Brussino, Alessandro, Barberis, Marco, Mancini, Cecilia, Margolis, Russell L, Holmes, Susan E, Nobili, Marcello, lani, Sylvie, Padovan, Sergio, Pappi, Patrizia, Zaros, Cecile, Leber, Isabelle, Ribai, Pascale, Pugliese, Luisa, Assalto, Corrado, Brice, Alexis, Migone, Nicola, Durr, Alexandra, Brusco, Alfredo
Published in Human mutation (01.10.2010)
Published in Human mutation (01.10.2010)
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Journal Article
New understandings of the genetic basis of isolated idiopathic central hypogonadism
Bonomi, Marco, Libri, Domenico Vladimiro, Guizzardi, Fabiana, Guarducci, Elena, Maiolo, Elisabetta, Pignatti, Elisa, Asci, Roberta, Persani, Luca
Published in Asian journal of andrology (01.01.2012)
Published in Asian journal of andrology (01.01.2012)
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Bilaterally cleft lip and bilateral thumb polydactyly with triphalangeal component in a patient with two De novo deletions of HSA 4q32 and 4q34 involving PDGFC, GRIA2, and FBXO8 genes
Calcia, Alessandro, Gai, Giorgia, Di Gregorio, Eleonora, Talarico, Flavia, Naretto, Valeria G., Migone, Nicola, Pepe, Ernesto, Grosso, Enrico, Brusco, Alfredo
Published in American journal of medical genetics. Part A (01.10.2013)
Published in American journal of medical genetics. Part A (01.10.2013)
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Spinocerebellar ataxia type 12 identified in two Italian families may mimic sporadic ataxia
Brussino, Alessandro, Graziano, Claudio, Giobbe, Dario, Ferrone, Marina, Dragone, Elisa, Arduino, Carlo, Lodi, Raffaele, Tonon, Caterina, Gabellini, Anna, Rinaldi, Rita, Miccoli, Sara, Grosso, Enrico, Bellati, Maria Cristina, Orsi, Laura, Migone, Nicola, Brusco, Alfredo
Published in Movement disorders (15.07.2010)
Published in Movement disorders (15.07.2010)
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CNV analysis in 169 patients with bladder exstrophy-epispadias complex
von Lowtzow, Catharina, Hofmann, Andrea, Zhang, Rong, Marsch, Florian, Ebert, Anne-Karoline, Rösch, Wolfgang, Stein, Raimund, Boemers, Thomas M, Hirsch, Karin, Marcelis, Carlo, Feitz, Wouter F J, Brusco, Alfredo, Migone, Nicola, Di Grazia, Massimo, Moebus, Susanne, Nöthen, Markus M, Reutter, Heiko, Ludwig, Michael, Draaken, Markus
Published in BMC medical genetics (30.04.2016)
Published in BMC medical genetics (30.04.2016)
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