Anti-AMPA GluA3 antibodies in Frontotemporal dementia: a new molecular target
Borroni, B, Stanic, J, Verpelli, C, Mellone, M, Bonomi, E, Alberici, A, Bernasconi, P, Culotta, L, Zianni, E, Archetti, S, Manes, M, Gazzina, S, Ghidoni, R, Benussi, L, Stuani, C, Di Luca, M, Sala, C, Buratti, E, Padovani, A, Gardoni, F
Published in Scientific reports (27.07.2017)
Published in Scientific reports (27.07.2017)
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Mutation within TARDBP leads to Frontotemporal Dementia without motor neuron disease
Borroni, B, Bonvicini, C, Alberici, A, Buratti, E, Agosti, C, Archetti, S, Papetti, A, Stuani, C, Di Luca, M, Gennarelli, M, Padovani, A
Published in Human mutation (01.11.2009)
Published in Human mutation (01.11.2009)
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Altered TDP‐43‐dependent splicing in HSPB8‐related distal hereditary motor neuropathy and myofibrillar myopathy
Cortese, A., Laurà, M., Casali, C., Nishino, I., Hayashi, Y. K., Magri, S., Taroni, F., Stuani, C., Saveri, P., Moggio, M., Ripolone, M., Prelle, A., Pisciotta, C., Sagnelli, A., Pichiecchio, A., Reilly, M. M., Buratti, E., Pareyson, D.
Published in European journal of neurology (01.01.2018)
Published in European journal of neurology (01.01.2018)
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Functional characterization of the common c.-32-13T>G mutation of GAA gene: identification of potential therapeutic agents
Dardis, Andrea, Zanin, Irene, Zampieri, Stefania, Stuani, Cristiana, Pianta, Annalisa, Romanello, Milena, Baralle, Francisco E, Bembi, Bruno, Buratti, Emanuele
Published in Nucleic acids research (01.01.2014)
Published in Nucleic acids research (01.01.2014)
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Publisher Correction: Anti-AMPA GluA3 antibodies in Frontotemporal dementia: a new molecular target
Borroni, B, Stanic, J, Verpelli, C, Mellone, M, Bonomi, E, Alberici, A, Bernasconi, P, Culotta, L, Zianni, E, Archetti, S, Manes, M, Gazzina, S, Ghidoni, R, Benussi, L, Stuani, C, Di Luca, M, Sala, C, Buratti, E, Padovani, A, Gardoni, F
Published in Scientific reports (05.01.2018)
Published in Scientific reports (05.01.2018)
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Altered localization and functionality of TAR DNA Binding Protein 43 (TDP-43) in niemann- pick disease type C
Dardis, A, Zampieri, S, Canterini, S, Newell, K L, Stuani, C, Murrell, J R, Ghetti, B, Fiorenza, M T, Bembi, B, Buratti, E
Published in Acta neuropathologica communications (18.05.2016)
Published in Acta neuropathologica communications (18.05.2016)
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Altered TDP ‐43‐dependent splicing in HSPB 8 ‐related distal hereditary motor neuropathy and myofibrillar myopathy
Cortese, A., Laurà, M., Casali, C., Nishino, I., Hayashi, Y. K., Magri, S., Taroni, F., Stuani, C., Saveri, P., Moggio, M., Ripolone, M., Prelle, A., Pisciotta, C., Sagnelli, A., Pichiecchio, A., Reilly, M. M., Buratti, E., Pareyson, D.
Published in European journal of neurology (01.01.2018)
Published in European journal of neurology (01.01.2018)
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New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12
Pagani, Franco, Stuani, Cristiana, Tzetis, Maria, Kanavakis, Emmanuel, Efthymiadou, Alexandra, Doudounakis, Stavros, Casals, Teresa, Baralle, Francisco E.
Published in Human molecular genetics (15.05.2003)
Published in Human molecular genetics (15.05.2003)
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Expression of tumor-promoting Cyr61 is regulated by hTRA2- 1 and acidosis
Hirschfeld, M., Jaeger, M., Buratti, E., Stuani, C., Grueneisen, J., Gitsch, G., Stickeler, E.
Published in Human molecular genetics (15.06.2011)
Published in Human molecular genetics (15.06.2011)
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Journal Article
A new type of mutation causes a splicing defect in ATM
Baralle, Francisco E, Pagani, Franco, Buratti, Emanuele, Stuani, Cristiana, Bendix, Regina, Dörk, Thilo
Published in Nature genetics (01.04.2002)
Published in Nature genetics (01.04.2002)
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An Intronic Polypyrimidine-rich Element Downstream of the Donor Site Modulates Cystic Fibrosis Transmembrane Conductance Regulator Exon 9 Alternative Splicing
Zuccato, Elisabetta, Buratti, Emanuele, Stuani, Cristiana, Baralle, Francisco E., Pagani, Franco
Published in The Journal of biological chemistry (23.04.2004)
Published in The Journal of biological chemistry (23.04.2004)
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Splicing Factors Induce Cystic Fibrosis Transmembrane Regulator Exon 9 Skipping through a Nonevolutionary Conserved Intronic Element
Pagani, Franco, Buratti, Emanuele, Stuani, Cristiana, Romano, Maurizio, Zuccato, Elisabetta, Niksic, Martina, Giglio, Luisella, Faraguna, Dino, Baralle, Francisco E.
Published in The Journal of biological chemistry (14.07.2000)
Published in The Journal of biological chemistry (14.07.2000)
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Journal Article
Promoter Architecture Modulates CFTR Exon 9 Skipping
Pagani, Franco, Stuani, Cristiana, Zuccato, Elisabetta, Kornblihtt, Alberto R., Baralle, Francisco E.
Published in The Journal of biological chemistry (17.01.2003)
Published in The Journal of biological chemistry (17.01.2003)
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Missense, Nonsense, and Neutral Mutations Define Juxtaposed Regulatory Elements of Splicing in Cystic Fibrosis Transmembrane Regulator Exon 9
Pagani, Franco, Buratti, Emanuele, Stuani, Cristiana, Baralle, Francisco E.
Published in The Journal of biological chemistry (18.07.2003)
Published in The Journal of biological chemistry (18.07.2003)
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Journal Article
Functional studies on the ATM intronic splicing processing element
Lewandowska, Marzena A., Stuani, Cristiana, Parvizpur, Alireza, Baralle, Francisco E., Pagani, Franco
Published in Nucleic acids research (01.01.2005)
Published in Nucleic acids research (01.01.2005)
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Difference in substrate specificity between human and mouse lysosomal acid lipase: low affinity for cholesteryl ester in mouse lysosomal acid lipase
Groener, Johanna E.M., Bax, Wim, Stuani, Cristiana, Pagani, Franco
Published in Biochimica et biophysica acta (27.09.2000)
Published in Biochimica et biophysica acta (27.09.2000)
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Expression of Lysosomal Acid Lipase Mutants Detected in Three Patients with Cholesteryl Ester Storage Disease
Pagani, Franco, Garcia, Rodolfo, Pariyarath, Rajalakshmi, Stuani, Cristiana, Gridelli, Bruno, Paone, Giovanni, BaraMe, Francisco E.
Published in Human molecular genetics (01.10.1996)
Published in Human molecular genetics (01.10.1996)
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