Stefano Duga - Dissemin

Papers authored by Stefano Duga

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2014 Bn Smith

, Lh van den Berg, Nicola Ticozzi

, Claudia Fallini, As Gkazi, Simon Topp

, Kp Kenna, El Scotter

, Jw Miller, Jason Kost, Ew Danielson, Pamela Keagle, Ea Lewis, Daniela Calini, Anneloor Lma Ten Asbroek and 80 other authors

Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS.

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Michela Robusto, Mingyan Fang

, Rosanna Asselta, Pierangela Castorina, Stefano C. Previtali

, Previtali Sc, Sonia Caccia, Elena Benzoni, Raimondo De Cristofaro, Cong Yu, Antonio Cesarani, Xuanzhu Liu, Wangsheng Li, Paola Primignani, Umberto Ambrosetti and 3 other authors

The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy

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Roberto Cilia, Chiara Siri, Damiana Rusconi, Roberta Allegra, Andrea Ghiglietti, Giorgio Sacilotto, Michela Zini, Anna Lena Zecchinelli

, Rosanna Asselta, Stefano Duga

, Anna Maria Paganoni, Gianni Pezzoli, Manuela Seia, Stefano Goldwurm

LRRK2 mutations in Parkinson's disease: Confirmation of a gender effect in the Italian population

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Elvezia M. Paraboschi, Valeria Rimoldi, Giulia Soldà, Tommaso Tabaglio

, Claudia Dall'Osso, Elena Saba, Marco Vigliano, Alessandro Salviati, Maurizio Leone

, Maria Donata Benedetti, Diego Fornasari, Janna Saarela, Philip L. De Jager, Nikolaos A. Patsopoulos, Sandra D'Alfonso and 3 other authors

Functional variations modulating PRKCA expression and alternative splicing predispose to multiple sclerosis

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Gina M. Peloso, Paul L. Auer, Joshua C. Bis, Arend Voorman, Alanna C. Morrison, Nathan O. Stitziel

, Jennifer A. Brody, Sumeet A. Khetarpal, Jacy R. Crosby, Myriam Fornage, Aaron Isaacs, Johanna Jakobsdottir, Mary F. Feitosa, Gail Davies, Jennifer E. Huffman and 87 other authors

Association of Low-Frequency and Rare Coding-Sequence Variants with Blood Lipids and Coronary Heart Disease in 56,000 Whites and Blacks

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2013 G. Castaman, S. H. Giacomelli, S. Caccia, F. Riccardi, G. Rossetti, A. Dragani, A. C. Giuffrida, C. Biasoli, S. Duga

The spectrum of factor XI deficiency in Italy

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This paper was not found in any repository, but could be made available legally by the author.

Stefano Duga

, Ophira Salomon

Congenital Factor XI Deficiency: An Update

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Lucy Costantino, Damiana Rusconi, Giulia Soldà, Manuela Seia, Valentina Paracchini, Luigi Porcaro, Rosanna Asselta, Carla Colombo, Stefano Duga

Fine Characterization of the Recurrent c.1584+18672A>G Deep-Intronic Mutation in the Cystic Fibrosis Transmembrane Conductance Regulator Gene

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Valeria Rimoldi, Giulia Soldà, Rosanna Asselta, Silvia Spena, Cristiana Stuani, Emanuele Buratti, Stefano Duga

Dual Role of G-runs and hnRNP F in the Regulation of a Mutation-Activated Pseudoexon in the Fibrinogen Gamma-Chain Transcript

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2012 Luca Trotta, Ilaria Guella, Giulia Soldà, Francesca Sironi, Silvana Tesei, Margherita Canesi, Gianni Pezzoli, Stefano Goldwurm, Stefano Duga

, Rosanna Asselta

SNCA and MAPT genes: Independent and joint effects in Parkinson disease in the Italian population

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Ilaria Guella, Giulia Soldà, Roberto Cilia, Gianni Pezzoli, Rosanna Asselta, Stefano Duga

, Stefano Goldwurm

The Asp620asn mutation in VPS35 is not a common cause of familial Parkinson's disease

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2011 Elvezia Maria Paraboschi, Giulia Soldà, Donato Gemmati, Elisa Orioli, Giulia Zeri, Maria Donata Benedetti, Alessandro Salviati, Nadia Barizzone, Maurizio Leone

, Stefano Duga

, Rosanna Asselta

Genetic Association and Altered Gene Expression of Mir-155 in Multiple Sclerosis Patients

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Ilaria Guella, Anna Pistocchi, Rosanna Asselta, Valeria Rimoldi, Anna Ghilardi, Francesca Sironi, Luca Trotta, Paola Primignani, Michela Zini, Anna Zecchinelli

, Domenico Coviello

, Gianni Pezzoli, Luca Del Giacco, Stefano Duga

, Stefano Goldwurm

Mutational screening and zebrafish functional analysis of GIGYF2 as a Parkinson-disease gene

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Giulia Soldà, Michela Robusto, Paola Primignani, Pierangela Castorina, Elena Benzoni, Antonio Cesarani, Umberto Ambrosetti, Rosanna Asselta, Stefano Duga

A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing

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Ilaria Guella, Diego Ardissino, Pier A. Merlini, Stefano Duga

, Flora Peyvandi, Pier M. Mannucci, Rosanna Asselta

Common variants in the haemostatic gene pathway contribute to risk of early-onset myocardial infarction in the Italian population:

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Ilaria Guella, Elvezia Maria Paraboschi, Willem A. van Schalkwyk, Rosanna Asselta, Stefano Duga

Identification of the first Alu-mediated large deletion involving the F5 gene in a compound heterozygous patient with severe factor V deficiency:

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2010 Hilma Hólm, Assimes Tl, Themistocles L. Assimes, Sekar Kathiresan, Muredach P. Reilly, Gudmar Thorleifsson, Patterson Cc, Benjamin F. Voight, Jeanette Erdmann, Christina Willenborg, Burnett Ms, Dhananjay Vaidya, Changchun Xie, Reilly Mp, Hilma Holm and 180 other authors

Lack of association between the Trp719Arg polymorphism in kinesin-like protein 6 and coronary artery disease in 19 case-control studies

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