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1

Congenital insensitivity to pain: novel SCN9A missense and in-frame deletion mutations

James J. Cox, Jony Sheynin, Zamir Shorer, Frank Reimann, Adeline K. Nicholas, Lorena Zubovic, Marco Baralle, Elizabeth Wraige, Esther Manor, Jacov Levy, C. Geoffery Woods, Ruti Parvari

Journal:

Year:

2010

Language:

english

File:

PDF, 879 KB

english, 2010

2

Serum levels of vascular endothelial growth factor and its receptors in patients with severe autism

Enzo Emanuele, Paolo Orsi, Francesco Barale, Stefania Ucelli di Nemi, Marco Bertona, Pierluigi Politi

Journal:

Clinical Biochemistry

Year:

2010

Language:

english

File:

PDF, 112 KB

english, 2010

3

Typed answer set programming lambda calculus theories and correctness of inverse lambda algorithms with respect to them

BARAL, CHITTA, DZIFCAK, JURAJ, GONZALEZ, MARCOS A., GOTTESMAN, AARON

Journal:

Theory and Practice of Logic Programming

Year:

2012

Language:

english

File:

PDF, 142 KB

english, 2012

4

Prediction of successful outcome in a randomised controlled trial of the long-term efficacy of interferon alpha treatment for chronic hepatitis C

Vandelli, Carmen, Renzo, Francesco, Braun, Hans Bertram, Tisminetzky, Sergio, Albrecht, Marie, De Palma, Marisa, Ranzi, Andrea, Di Marco, Giuseppe, Stroffolini, Tommaso, Baralle, Francesco, Ventura, E

Journal:

Journal of Medical Virology

Year:

1999

Language:

english

File:

PDF, 163 KB

english, 1999

5

Characterization of two novel GBA mutations causing Gaucher disease that lead to aberrant RNA species by using functional splicing assays

Silvia Dominissini, Emanuele Buratti, Bruno Bembi, Marco Baralle, Maria Gabriela Pittis

Journal:

Year:

2006

Language:

english

File:

PDF, 197 KB

english, 2006

6

QT interval prolongation related to psychoactive drug treatment: a comparison of monotherapy versus polytherapy

Michela Sala, Alessandro Vicentini, Paolo Brambilla, Cristina Montomoli, Jigar RS Jogia, Eduardo Caverzasi, Alberto Bonzano, Marco Piccinelli, Francesco Barale, Gaetano M De Ferrari

Journal:

Annals of General Psychiatry

Year:

2005

Language:

english

File:

PDF, 280 KB

english, 2005

7

InTRONs in Biotech

Natasa Skoko, Marco Baralle, Sergio Tisminetzky, Emanuele Buratti

Journal:

Molecular Biotechnology

Year:

2011

Language:

english

File:

PDF, 379 KB

english, 2011

8

Identification and characterization of four PAX8 rare sequence variants (p.T225M, p.L233L, p.G336S and p.A439A) in patients with congenital hypothyroidism and dysgenetic thyroid glands

Sebastián A. Esperante, Carina M. Rivolta, Lucrecia Miravalle, Viviana Herzovich, Sonia Iorcansky, Marco Baralle, Héctor M. Targovnik

Journal:

Clinical Endocrinology

Year:

2008

Language:

english

File:

PDF, 280 KB

english, 2008

9

Nuclear factor TDP-43 can affect selected microRNA levels

Emanuele Buratti, Laura De Conti, Cristiana Stuani, Maurizio Romano, Marco Baralle, Francisco Baralle

Journal:

Year:

2010

Language:

english

File:

PDF, 823 KB

english, 2010

10

TDP-43 regulates its mRNA levels through a negative feedback loop

Ayala, Youhna M, De Conti, Laura, Avendaño-Vázquez, S Eréndira, Dhir, Ashish, Romano, Maurizio, D'Ambrogio, Andrea, Tollervey, James, Ule, Jernej, Baralle, Marco, Buratti, Emanuele

Journal:

The EMBO Journal

Year:

2010

Language:

english

File:

PDF, 1.20 MB

english, 2010

11

Improving human interferon-β production in mammalian cell lines by insertion of an intronic sequence within its naturally uninterrupted gene

Paola Zago, Marco Baralle, Youhna M. Ayala, Natasa Skoko, Serena Zacchigna, Emanuele Buratti, Sergio Tisminetzky

Journal:

Biotechnology and Applied Biochemistry

Year:

2009

Language:

english

File:

PDF, 482 KB

english, 2009

12

Influence of Friedreich Ataxia GAA Noncoding Repeat Expansions on Pre-mRNA Processing

Marco Baralle, Tibor Pastor, Erica Bussani, Franco Pagani

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 703 KB

english, 2008

13

The pathological splicing mutation c.6792C > G in NF1 exon 37 causes a change of tenancy between antagonistic splicing factors

Natasa Skoko, Marco Baralle, Emanuele Buratti, Francisco E. Baralle

Journal:

Year:

2008

Language:

english

File:

PDF, 631 KB

english, 2008

14

Herbicide-induced DNA damage in human lymphocytes evaluated by the single-cell electrophoresis assay

G. Ribas, G. Frenzilli, R. Barale, R. Marcos

Journal:

Mutation Research/Environmental Mutagenesis and Related Subjects

Year:

1996

Language:

english

File:

PDF, 88 KB

english, 1996

15

NF1 mRNA biogenesis: Effect of the genomic milieu in splicing regulation of the NF1 exon 37 region

Marco Baralle, Natasa Skoko, Anna Knezevich, Laura De Conti, Dario Motti, Madhuri Bhuvanagiri, Diana Baralle, Emanuele Buratti, Francisco E. Baralle

Journal:

Year:

2006

Language:

english

File:

PDF, 524 KB

english, 2006

16

Anti-depressive Therapies After Heart Transplantation

Paolo Fusar-Poli, Marco Picchioni, Valentina Martinelli, Sagnik Bhattacharyya, Mariachiara Cortesi, Francesco Barale, Pierluigi Politi

Journal:

The Journal of Heart and Lung Transplantation

Year:

2006

Language:

english

File:

PDF, 159 KB

english, 2006

17

UG Repeats/TDP-43 Interactions near 5′ Splice Sites Exert Unpredictable Effects on Splicing Modulation

Monica Passoni, Laura De Conti, Marco Baralle, Emanuele Buratti

Journal:

Journal of Molecular Biology

Year:

2012

Language:

english

File:

PDF, 1.13 MB

english, 2012

18

Incidence of vaccine preventable pneumococcal invasive infections and blood culture practices in Italy

Fortunato D’Ancona, Stefania Salmaso, Antonella Barale, Delia Boccia, Pier Luigi Lopalco, Caterina Rizzo, Monica Monaco, Marco Massari, Vittorio Demicheli, Annalisa Pantosti

Journal:

Year:

2005

Language:

english

File:

PDF, 89 KB

english, 2005

19

Human apolipoprotein A-IV reduces gastric acid secretion and diminishes ulcer formation in transgenic mice

Laurent Vergnes, Nadine Baroukh, Thérèse Léhy, Laurent Moizo, André Bado, Marco Baralle, Francisco E Baralle, Mario M Zakin, Alberto Ochoa

Journal:

Year:

1999

Language:

english

File:

PDF, 163 KB

english, 1999

20

Formation of micronuclei and of clastogenic factor(s) in patients receiving therapeutic doses of iodine-131

Michela Ballardin, Federica Gemignani, Lisa Bodei, Giuliano Mariani, Marco Ferdeghini, Anna Maria Rossi, Lucia Migliore, Roberto Barale

Journal:

Mutation Research/Genetic Toxicology and Environmental Mutagenesis

Year:

2002

Language:

english

File:

PDF, 73 KB

english, 2002

21

Dysregulation of the endothelial nitric oxide synthase–soluble guanylate cyclase pathway is normalized by insulin in the aorta of diabetic rat

Michela Zanetti, Rocco Barazzoni, Marco Stebel, Elena Roder, Gianni Biolo, Francisco E. Baralle, Luigi Cattin, Gianfranco Guarnieri

Journal:

Atherosclerosis

Year:

2005

Language:

english

File:

PDF, 116 KB

english, 2005

22

Analysis of the hepatitis C virus genome in patients with anti-LKM-1 autoantibodies

Martina Gerotto, Patrizia Pontisso, Fabrizio Giostra, Raffaella Francesconi, Luigi Muratori, Giorgio Ballardini, Marco Lenzi, Sergio Tisminetzky, Francesco B. Bianchi, Francisco B. Baralle, Alfredo Al

Journal:

Journal of Hepatology

Year:

1994

Language:

english

File:

PDF, 292 KB

english, 1994

23

Exon and intron definition in pre-mRNA splicing

De Conti, Laura, Baralle, Marco, Buratti, Emanuele

Journal:

Wiley Interdisciplinary Reviews: RNA

Year:

2013

Language:

english

File:

PDF, 1.21 MB

english, 2013

24

Herbicide-induced DNA damage in human lymphocytes evaluated by the single-cell gel electrophoresis (SCGE) assay

G. Ribas, G. Frenzilli, R. Barale, R. Marcos

Journal:

Mutation Research/Genetic Toxicology

Year:

1995

Language:

english

File:

PDF, 846 KB

english, 1995

25

An intronic mutation causes long QT syndrome

Li Zhang, G. Michael Vincent, Marco Baralle, Francisco E. Baralle, Blake D. Anson, D. Woodrow Benson, Bryant Whiting, Katherine W. Timothy, John Carlquist, Craig T. January, Mark T. Keating, Igor Spla

Journal:

Journal of the American College of Cardiology

Year:

2004

Language:

english

File:

PDF, 1.02 MB

english, 2004

26

MP56-18 ARE INTERMEDIATE RISK NMIBC FAILING BCG A HIGH RISK DISEASE? LONG TERM RESULTS OF A PHASE II STUDY ON SECOND LINE INTRAVESICAL GEMCITABINE.

Fiorito, Chiara, Di Marco, Massimiliano, Sogni, Filippo, Pappagallo, Giovanni, Ricceri, Fulvio, Barale, Maurizio, Melloni, Guglielmo, Gontero, Paolo

Journal:

The Journal of Urology

Year:

2014

Language:

english

File:

PDF, 216 KB

english, 2014

27

Les mutations SOX10 responsables de l’association des syndromes de Kallmann et Waardenburg

Pingault, V., Bodereau, V., Baral, V., Marcos, S., Watanabe, Y., Chaoui, A., Fouveaut, C., Leroy, C., Verier-Mine, O., Francannet, C., Dupin-Deguine, D., Archambeaud, F., Kurtz, F., Young, J., Berther

Journal:

Annales d'Endocrinologie

Year:

2013

Language:

french

File:

PDF, 313 KB

french, 2013

28

Loss-of-Function Mutations in SOX10 Cause Kallmann Syndrome with Deafness

Pingault, Veronique, Bodereau, Virginie, Baral, Viviane, Marcos, Severine, Watanabe, Yuli, Chaoui, Asma, Fouveaut, Corinne, Leroy, Chrystel, Vérier-Mine, Odile, Francannet, Christine, Dupin-Deguine, D

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 2.50 MB

english, 2013

29

Human tenascin: primary structure, pre-mRNA splicing patterns and localization of the epitopes recognized by two monoclonal antibodies

Siri, Annalisa, Carnemolla, Barbara, Saginati, Marco, Leprini, Alessandra, Casari, Giorgio, Baralle, Francisco, Zardi, Luciano

Journal:

Nucleic Acids Research

Year:

1991

Language:

english

File:

PDF, 3.63 MB

english, 1991

30

BRCA1 exon 11 a model of long exon splicing regulation

Raponi, Michela, Smith, Lindsay D, Silipo, Marco, Stuani, Cristiana, Buratti, Emanuele, Baralle, Diana

Journal:

Year:

2014

Language:

english

File:

PDF, 1.12 MB

english, 2014

31

The Effect of Ginkgo biloba Extract on Genotoxic Damage in Patients with Differentiated Thyroid Carcinoma Receiving Thyroid Remnant Ablation with Iodine-131

Dardano, Angela, Ballardin, Michela, Caraccio, Nadia, Boni, Giuseppe, Traino, Claudio, Mariani, Giuliano, Ferdeghini, Marco, Barale, Roberto, Monzani, Fabio

Journal:

Year:

2012

Language:

english

File:

PDF, 278 KB

english, 2012

32

TDP-43 in skeletal muscle of patients affected with amyotrophic lateral sclerosis

Sorarú, Gianni, Orsetti, Valeria, Buratti, Emanuele, Baralle, Francisco, Cima, Valentina, Volpe, Marco, D'ascenzo, Carla, Palmieri, Arianna, Koutsikos, Kostantinos, Pegoraro, Elena, Angelini, Corrado

Journal:

Amyotrophic Lateral Sclerosis

Year:

2010

Language:

english

File:

PDF, 155 KB

english, 2010

33

A Common Polymorphism Within MSLN Affects miR-611 Binding Site and Soluble Mesothelin Levels in Healthy People

Garritano, Sonia, De Santi, Chiara, Silvestri, Roberto, Melaiu, Ombretta, Cipollini, Monica, Barone, Elisa, Lucchi, Marco, Barale, Roberto, Mutti, Luciano, Gemignani, Federica, Bonotti, Alessandra, Fo

Journal:

Journal of Thoracic Oncology

Year:

2014

Language:

english

File:

PDF, 374 KB

english, 2014

34

Prothrombotic Effects of Fibronectin Isoforms Containing the EDA Domain

Chauhan, A. K., Kisucka, J., Cozzi, M. R., Walsh, M. T., Moretti, F. A., Battiston, M., Mazzucato, M., De Marco, L., Baralle, F. E., Wagner, D. D., Muro, A. F.

Journal:

Arteriosclerosis Thrombosis and Vascular Biology

Year:

2007

Language:

english

File:

PDF, 274 KB

english, 2007

35

Complexities of 5'splice site definition: Implications in clinical analyses

De Conti, Laura, Skoko, Natasa, Buratti, Emanuele, Baralle, Marco

Journal:

Year:

2012

Language:

english

File:

PDF, 2.50 MB

english, 2012

36

Characterization ofStaphylococcus aureusCas9: a smaller Cas9 for all-in-one adeno-associated virus delivery and paired nickase applications

Friedland, Ari E., Baral, Reshica, Singhal, Pankhuri, Loveluck, Katherine, Shen, Shen, Sanchez, Minerva, Marco, Eugenio, Gotta, Gregory M., Maeder, Morgan L., Kennedy, Edward M., Kornepati, Anand V. R

Journal:

Year:

2015

Language:

english

File:

PDF, 1.09 MB

english, 2015

37

TDP-43 affects splicing profiles and isoform production of genes involved in the apoptotic and mitotic cellular pathways

De Conti, Laura, Akinyi, Maureen V., Mendoza-Maldonado, Ramiro, Romano, Maurizio, Baralle, Marco, Buratti, Emanuele

Journal:

Nucleic Acids Research

Year:

2015

Language:

english

File:

PDF, 6.38 MB

english, 2015

38

Genetics and molecular biology

Baralle, Marco, Baralle, Francisco E.

Journal:

Current Opinion in Lipidology

Year:

2001

Language:

english

File:

PDF, 84 KB

english, 2001

39

Genetics and molecular biology

Baralle, Marco, Baralle, Francisco E.

Journal:

Current Opinion in Lipidology

Year:

2000

Language:

english

File:

PDF, 46 KB

english, 2000

40

Antimycobacterial activity of new N1-[1-[1-aryl-3-[4-(1H-imidazol-1-yl)phenyl]-3-oxo]propyl]-pyridine-2-carboxamidrazone derivatives

Zampieri, Daniele, Mamolo, Maria Grazia, Vio, Luciano, Romano, Maurizio, Skoko, Nataša, Baralle, Marco, Pau, Valentina, De Logu, Alessandro

Journal:

Bioorganic & Medicinal Chemistry Letters

Year:

2016

Language:

english

File:

PDF, 310 KB

english, 2016

41

Genetics and molecular biology

Baralle, Marco, Baralle, Francisco E.

Journal:

Current Opinion in Lipidology

Year:

1999

File:

PDF, 247 KB

1999

42

Genetics and molecular biology: single nucleotide polymorphism associations and their functional significance

Baralle, Marco, Baralle, Francisco E

Journal:

Current Opinion in Lipidology

Year:

2006

Language:

english

File:

PDF, 84 KB

english, 2006

43

Vascular gene therapy: getting to know the players, avoiding the pitfalls

Baralle, Marco, Baralle, Francisco E

Journal:

Current Opinion in Lipidology

Year:

2004

Language:

english

File:

PDF, 71 KB

english, 2004

44

Genetics and molecular biology

Baralle, Marco, Baralle, Francisco E

Journal:

Current Opinion in Lipidology

Year:

2005

Language:

english

File:

PDF, 62 KB

english, 2005

45

Ten Years of “Extended” Life: Quality of Life Among Heart Transplantation Survivors

Politi, Pierluigi, Piccinelli, Marco, Poli, Paolo Fusar, Klersy, Catherine, Campana, Carlo, Goggi, Claudio, Viganò, Mario, Barale, Francesco

Journal:

Transplantation Journal

Year:

2004

Language:

english

File:

PDF, 340 KB

english, 2004

46

Genetics and molecular biology: variations in alternative spliced pre-mRNA-protein isoforms and their role in disease

Baralle, Marco, Baralle, Francisco E

Journal:

Current Opinion in Lipidology

Year:

2008

Language:

english

File:

PDF, 49 KB

english, 2008

47

Genetics and molecular biology: micro RNAs are welcome to the lipid field

Baralle, Marco, Baralle, Francisco E

Journal:

Current Opinion in Lipidology

Year:

2007

Language:

english

File:

PDF, 60 KB

english, 2007

48

Neurodegeneration and RNA-binding proteins

De Conti, Laura, Baralle, Marco, Buratti, Emanuele

Journal:

Wiley Interdisciplinary Reviews: RNA

Year:

2016

Language:

english

File:

PDF, 682 KB

english, 2016

49

TDP-43 aggregation mirrors TDP-43 knockdown, affecting the expression levels of a common set of proteins

Prpar Mihevc, S., Baralle, Marco, Buratti, Emanuele, Rogelj, Boris

Journal:

Scientific Reports

Year:

2016

Language:

english

File:

PDF, 1.30 MB

english, 2016

50

New routes in frontotemporal dementia drug discovery

De Conti, Laura, Borroni, Barbara, Baralle, Marco

Journal:

Expert Opinion on Drug Discovery

Year:

2017

Language:

english

File:

PDF, 1.39 MB

english, 2017