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Author/Creator Pinotti, Mirko

11. Not Just Loss-of-Function Variations: Identification of a Hypermorphic Variant in a Patient With a CDKL5 Missense Substitution. (9th April 2022)

Authors:
Frasca, Angelisa; Pavlidou, Efterpi; Bizzotto, Matteo; Gao, Yunan; Balestra, Dario; Pinotti, Mirko; Dahl, Hans Atli; Mazarakis, Nicholas D.; Landsberger, Nicoletta; Kinali, Maria
Journal:
Neurology
Issue:
Volume 8:Number 2(2022)
Page Start:
Record Type:
Journal Article
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12. Promoter methylation in coagulation F7 gene influences plasma FVII concentrations and relates to coronary artery disease. Issue 3 (7th February 2012)

Authors:
Friso, Simonetta; Lotto, Valentina; Choi, Sang-Woon; Girelli, Domenico; Pinotti, Mirko; Guarini, Patrizia; Udali, Silvia; Pattini, Patrizia; Pizzolo, Francesca; Martinelli, Nicola; Corrocher, Roberto; Bernardi, Francesco; Olivieri, Oliviero
Journal:
Journal of medical genetics
Issue:
Volume 49:Issue 3(2012)
Page Start:
192
Record Type:
Journal Article
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13. Replacement of the Y450 (c234) phenyl ring in the carboxyl‐terminal region of coagulation factor IX causes pleiotropic effects on secretion and enzyme activity. Issue 19 (27th August 2013)

Authors:
Branchini, Alessio; Campioni, Matteo; Mazzucconi, Maria Gabriella; Biondo, Francesca; Mari, Rosella; Bicocchi, Maria Patrizia; Bernardi, Francesco; Pinotti, Mirko
Journal:
FEBS letters
Issue:
Volume 587:Issue 19(2013)
Page Start:
3249
Record Type:
Journal Article
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14. Rescue of spinal muscular atrophy mouse models with AAV9-Exon-specific U1 snRNA. Issue 14 (25th May 2019)

Authors:
Donadon, Irving; Bussani, Erica; Riccardi, Federico; Licastro, Danilo; Romano, Giulia; Pianigiani, Giulia; Pinotti, Mirko; Konstantinova, Pavlina; Evers, Melvin; Lin, Shuo; Rüegg, Markus A; Pagani, Franco
Journal:
Nucleic acids research
Issue:
Volume 47:Issue 14(2019)
Page Start:
7618
Record Type:
Journal Article
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17. The p.P1127S pathogenic variant lowers von Willebrand factor levels through higher affinity for the macrophagic scavenger receptor LRP1: Clinical phenotype and pathogenic mechanisms. (9th June 2022)

Authors:
Sacco, Monica; Lancellotti, Stefano; Branchini, Alessio; Tardugno, Maira; Testa, Maria Francesca; Lunghi, Barbara; Bernardi, Francesco; Pinotti, Mirko; Giusti, Betti; Castaman, Giancarlo; De Cristofaro, Raimondo
Journal:
Journal of thrombosis and haemostasis
Issue:
Volume 20:Number 8(2022)
Page Start:
1818
Record Type:
Journal Article
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18. Translational readthrough of GLA nonsense mutations suggests dominant-negative effects exerted by the interaction of wild-type and missense variants. Issue 2 (1st February 2020)

Authors:
Lombardi, Silvia; Ferrarese, Mattia; Marchi, Saverio; Pinton, Paolo; Pinotti, Mirko; Bernardi, Francesco; Branchini, Alessio
Journal:
RNA biology
Issue:
Volume 17:Issue 2(2020)
Page Start:
254
Record Type:
Journal Article
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