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1

Coexistence of a novel homozygous nonsense mutation in exon 13 of the factor V gene with the homozygous Leiden mutation in two unrelated patients with severe factor V deficiency

Richard Van Wijk, Maria Claudia Montefusco, Stefano Duga, Rosanna Asselta, Wouter Van Solinge, Massimo Malcovati, Maria Luisa Tenchini, Pier Mannuccio Mannucci

Journal:

British Journal of Haematology

Year:

2001

Language:

english

File:

PDF, 341 KB

english, 2001

2

Chromosome Transplantation: A Possible Approach to Treat Human X-linked Disorders

Paulis, Marianna, Susani, Lucia, Castelli, Alessandra, Suzuki, Teruhiko, Hara, Takahiko, Straniero, Letizia, Duga, Stefano, Strina, Dario, Mantero, Stefano, Caldana, Elena, Sergi, Lucia Sergi, Villa,

Journal:

Molecular Therapy — Methods & Clinical Development

Year:

2020

Language:

english

File:

PDF, 1.47 MB

english, 2020

3

Factor XI gene mutations in factor XI deficient patients of the Czech Republic

Giancarlo Castaman, Sofia H. Giacomelli, David Habart, Rosanna Asselta, Stefano Duga, Francesco Rodeghiero

Journal:

American Journal of Hematology

Year:

2008

Language:

english

File:

PDF, 345 KB

english, 2008

4

The PDXK rs2010795 variant is not associated with Parkinson disease in Italy

Ilaria Guella, Rosanna Asselta, Silvana Tesei, Michela Zini, Gianni Pezzoli, Stefano Duga

Journal:

Annals of Neurology

Year:

2010

Language:

english

File:

PDF, 107 KB

english, 2010

5

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

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

Journal:

Movement Disorders

Year:

2012

Language:

english

File:

PDF, 79 KB

english, 2012

6

Mutational Analysis of Nicotinic Acetylcholine Receptor β2 Subunit Gene (CHRNB2) in a Representative Cohort of Italian Probands Affected by Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

Stefano Duga, Rosanna Asselta, Maria Teresa Bonati, Massimo Malcovati, Leda Dalprà, Alessandro Oldani, Marco Zucconi, Luigi Ferini-Strambi, Maria Luisa Tenchini

Journal:

Year:

2002

Language:

english

File:

PDF, 42 KB

english, 2002

7

Exclusion of linkage of nine neuronal nicotinic acetylcholine receptor subunit genes expressed in brain in autosomal dominant nocturnal frontal lobe epilepsy in four unrelated families

Maria Teresa Bonati, Romina Combi, Rosanna Asselta, Stefano Duga, Massimo Malcovati, Alessandro Oldani, Marco Zucconi, Luigi Ferini-Strambi, Leda Dalprà, Maria Luisa Tenchini

Journal:

Journal of Neurology

Year:

2002

Language:

english

File:

PDF, 935 KB

english, 2002

8

A novel two base pair deletion in the factor V gene associated with severe factor V deficiency

Maria Claudia Montefusco, Stefano Duga, Rosanna Asselta, Elena Santagostino, Giacomo Mancuso, Massimo Malcovati, Pier Mannuccio Mannucci, Maria Luisa Tenchini

Journal:

British Journal of Haematology

Year:

2000

Language:

english

File:

PDF, 167 KB

english, 2000

9

Pseudo-exon activation caused by a deep-intronic mutation in the fibrinogen γ-chain gene as a novel mechanism for congenital afibrinogenaemia

Silvia Spena, Rosanna Asselta, Manuela Platé, Giancarlo Castaman, Stefano Duga, Maria Luisa Tenchini

Journal:

British Journal of Haematology

Year:

2007

Language:

english

File:

PDF, 597 KB

english, 2007

10

A novel factor XI missense mutation (Val371Ile) in the activation loop is responsible for a case of mild type II factor XI deficiency

Cristina Bozzao, Valeria Rimoldi, Rosanna Asselta, Meytal Landau, Rossella Ghiotto, Maria L. Tenchini, Raimondo De Cristofaro, Giancarlo Castaman, Stefano Duga

Journal:

Year:

2007

Language:

english

File:

PDF, 397 KB

english, 2007

11

Congenital afibrinogenaemia caused by uniparental isodisomy of chromosome 4 containing a novel 15-kb deletion involving fibrinogen Aα-chain gene

Spena, Silvia, Duga, Stefano, Asselta, Rosanna, Peyvandi, Flora, Mahasandana, Chularatana, Malcovati, Massimo, Tenchini, Maria Luisa

Journal:

European Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 234 KB

english, 2004

12

The intron-containing L3 ribosomal protein gene (RPL3): sequence analysis and identification of U43 and of two novel intronic small nucleolar RNAs

Stefano Duga, Rosanna Asselta, Massimo Malcovati, Maria L. Tenchini, Severino Ronchi, Tatjana Simonic

Journal:

Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression

Year:

2000

Language:

english

File:

PDF, 415 KB

english, 2000

13

A new exon in the 5′ untranslated region of the connexin32 gene

Stefano Duga, Rosanna Asselta, Luca Del Giacco, Massimo Malcovati, Severino Ronchi, Maria L. Tenchini, Tatjana Simonic

Journal:

Year:

1999

Language:

english

File:

PDF, 792 KB

english, 1999

14

L-Aspartate Oxidase from Escherichia coli : I. Characterization of Coenzyme Binding and Product Inhibition

Michele Mortarino, Armando Negri, Gabriella Tedeschi, Tatjana Simonic, Stefano Duga, Hans Gunther Gassen, Severino Ronchi

Journal:

Year:

1996

Language:

english

File:

PDF, 1.13 MB

english, 1996

15

Genomic Organization of the Human γ Adducin Gene

Lorena Citterio, Tiziana Azzani, Stefano Duga, Giuseppe Bianchi

Journal:

Biochemical and Biophysical Research Communications

Year:

1999

Language:

english

File:

PDF, 75 KB

english, 1999

16

Molecular characterization of the first missense mutation in the fibrinogen Aalpha-chain gene identified in a compound heterozygous afibrinogenemic patient

Manuela Platé, Rosanna Asselta, Flora Peyvandi, Maria Luisa Tenchini, Stefano Duga

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

2007

Language:

english

File:

PDF, 762 KB

english, 2007

17

Congenital hypofibrinogenemia: Characterization of two missense mutations affecting fibrinogen assembly and secretion

Manuela Platè, Rosanna Asselta, Silvia Spena, Marta Spreafico, Sharmila Fagoonee, Flora Peyvandi, Maria Luisa Tenchini, Stefano Duga

Journal:

Blood Cells, Molecules, and Diseases

Year:

2008

Language:

english

File:

PDF, 767 KB

english, 2008

18

Coagulation factor V

Stefano Duga, Rosanna Asselta, Maria Luisa Tenchini

Journal:

The International Journal of Biochemistry & Cell Biology

Year:

2004

Language:

english

File:

PDF, 331 KB

english, 2004

19

In vivo RNA–RNA duplexes from human α3 and α5 nicotinic receptor subunit mRNAs

Giulia Soldà, Silvia Boi, Stefano Duga, Diego Fornasari, Roberta Benfante, Massimo Malcovati, Maria Luisa Tenchini

Journal:

Year:

2005

Language:

english

File:

PDF, 378 KB

english, 2005

20

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

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

Journal:

Parkinsonism & Related Disorders

Year:

2012

Language:

english

File:

PDF, 390 KB

english, 2012

21

cDNA cloning of turtle prion protein

Tatjana Simonic, Stefano Duga, Bice Strumbo, Rosanna Asselta, Fabrizio Ceciliani, Severino Ronchi

Journal:

Year:

2000

Language:

english

File:

PDF, 551 KB

english, 2000

22

Identification of Four Novel Polymorphisms in the Aα and γ Fibrinogen Genes and Analysis of Association with Plasma Levels of the Protein

Marzia Menegatti, Rosanna Asselta, Stefano Duga, Massimo Malcovati, Paolo Bucciarelli, Pier M Mannucci, Maria L Tenchini

Journal:

Thrombosis Research

Year:

2001

Language:

english

File:

PDF, 321 KB

english, 2001

23

Congenital afibrinogenemia: intracellular retention of fibrinogen due to a novel W437G mutation in the fibrinogen Bβ-chain gene

Silvia Spena, Rosanna Asselta, Stefano Duga, Massimo Malcovati, Flora Peyvandi, Pier Mannuccio Mannucci, Maria Luisa Tenchini

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

2003

Language:

english

File:

PDF, 313 KB

english, 2003

24

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

Cilia, Roberto, Siri, Chiara, Rusconi, Damiana, Allegra, Roberta, Ghiglietti, Andrea, Sacilotto, Giorgio, Zini, Michela, Zecchinelli, Anna L., Asselta, Rosanna, Duga, Stefano, Paganoni, Anna M., Pezzo

Journal:

Parkinsonism & Related Disorders

Year:

2014

Language:

english

File:

PDF, 209 KB

english, 2014

25

Glucocerebrosidase mutations in primary parkinsonism

Asselta, Rosanna, Rimoldi, Valeria, Siri, Chiara, Cilia, Roberto, Guella, Ilaria, Tesei, Silvana, Soldà, Giulia, Pezzoli, Gianni, Duga, Stefano, Goldwurm, Stefano

Journal:

Parkinsonism & Related Disorders

Year:

2014

Language:

english

File:

PDF, 386 KB

english, 2014

26

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction

Do, Ron, Stitziel, Nathan O., Won, Hong-Hee, Jørgensen, Anders Berg, Duga, Stefano, Angelica Merlini, Pier, Kiezun, Adam, Farrall, Martin, Goel, Anuj, Zuk, Or, Guella, Illaria, Asselta, Rosanna, Lange

Journal:

Year:

2014

Language:

english

File:

PDF, 375 KB

english, 2014

27

Congenital hypofibrinogenemia associated with novel homozygous fibrinogen Aα and heterozygous Bβ chain mutations

Castaman, Giancarlo, Rimoldi, Valeria, Giacomelli, Sofia H., Duga, Stefano

Journal:

Thrombosis Research

Year:

2015

Language:

english

File:

PDF, 559 KB

english, 2015

28

Molecular characterization of 7 patients affected by dys- or hypo-dysfibrinogenemia: Identification of a novel mutation in the fibrinogen Bbeta chain causing a gain of glycosylation

Asselta, Rosanna, Robusto, Michela, Platé, Manuela, Santoro, Cristina, Peyvandi, Flora, Duga, Stefano

Journal:

Thrombosis Research

Year:

2015

Language:

english

File:

PDF, 741 KB

english, 2015

29

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

Paraboschi, Elvezia Maria, Soldà, Giulia, Gemmati, Donato, Orioli, Elisa, Zeri, Giulia, Benedetti, Maria Donata, Salviati, Alessandro, Barizzone, Nadia, Leone, Maurizio, Duga, Stefano, Asselta, Rosann

Journal:

International Journal of Molecular Sciences

Year:

2011

Language:

english

File:

PDF, 486 KB

english, 2011

30

Congenital Factor XI Deficiency: An Update

Duga, Stefano, Salomon, Ophira

Journal:

Seminars in Thrombosis and Hemostasis

Year:

2013

Language:

english

File:

PDF, 292 KB

english, 2013

31

Systematic Cell-Based Phenotyping of Missense Alleles Empowers Rare Variant Association Studies: A Case for LDLR and Myocardial Infarction

Thormaehlen, Aenne S., Schuberth, Christian, Won, Hong-Hee, Blattmann, Peter, Joggerst-Thomalla, Brigitte, Theiss, Susanne, Asselta, Rosanna, Duga, Stefano, Merlini, Pier Angelica, Ardissino, Diego, L

Journal:

Year:

2015

Language:

english

File:

PDF, 1.31 MB

english, 2015

32

Factor XI Deficiency

Duga, Stefano, Salomon, Ophira

Journal:

Seminars in Thrombosis and Hemostasis

Year:

2009

Language:

english

File:

PDF, 163 KB

english, 2009

33

First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family

Soldà, Giulia, Caccia, Sonia, Robusto, Michela, Chiereghin, Chiara, Castorina, Pierangela, Ambrosetti, Umberto, Duga, Stefano, Asselta, Rosanna

Journal:

Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 807 KB

english, 2015

34

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

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

Journal:

American Journal of Respiratory Cell and Molecular Biology

Year:

2013

Language:

english

File:

PDF, 1.16 MB

english, 2013

35

Understanding the differential regulation of GBA and GBAP1 expression

Rimoldi, Valeria, Rovaris, Giulia, Straniero, Letizia, Pezzoli, Gianni, Goldwurm, Stefano, Soldà, Giulia, Asselta, Rosanna, Duga, Stefano

Journal:

Parkinsonism & Related Disorders

Year:

2016

Language:

english

File:

PDF, 55 KB

english, 2016

36

Refined mapping of CHRNA3/A5/B4 gene cluster and its implications in ADNFLE

Bonati, Maria Teresa, Asselta, Rosanna, Duga, Stefano, Ferini-Strambi, Luigi, Oldani, Alessandro, Zucconi, Marco, Malcovati, Massimo, Dalprà, Leda, Tenchini, Maria Luisa

Journal:

Year:

2000

Language:

english

File:

PDF, 154 KB

english, 2000

37

Identification of novel PD genes by whole-exome sequencing in Italian families

Straniero, Letizia, Soldà, Giulia, Asselta, Rosanna, Guella, Ilaria, Pezzoli, Gianni, Farrer, Matthew, Goldwurm, Stefano, Duga, Stefano

Journal:

Parkinsonism & Related Disorders

Year:

2016

Language:

english

File:

PDF, 47 KB

english, 2016

38

Understanding the differential regulation of GBA and GBAP1 expression

Rimoldi, Valeria, Rovaris, Giulia, Straniero, Letizia, Pezzoli, Gianni, Goldwurm, Stefano, Soldà, Giulia, Asselta, Rosanna, Duga, Stefano

Journal:

Parkinsonism & Related Disorders

Year:

2016

Language:

english

File:

PDF, 171 KB

english, 2016

39

Identification of novel PD genes by whole-exome sequencing in Italian families

Straniero, Letizia, Soldà, Giulia, Asselta, Rosanna, Guella, Ilaria, Pezzoli, Gianni, Farrer, Matthew, Goldwurm, Stefano, Duga, Stefano

Journal:

Parkinsonism & Related Disorders

Year:

2016

Language:

english

File:

PDF, 53 KB

english, 2016

40

Recurrence of the ‘deep-intronic’ FGG IVS6-320A>T mutation causing quantitative fibrinogen deficiency in the Italian population of Veneto

Platè, Manuela, Duga, Stefano, Castaman, Giancarlo, Rodeghiero, Francesco, Asselta, Rosanna

Journal:

Blood Coagulation & Fibrinolysis

Year:

2009

Language:

english

File:

PDF, 279 KB

english, 2009

41

cDNA cloning and expression of the flavoprotein d-aspartate oxidase from bovine kidney cortex

SIMONIC, Tatjana, DUGA, Stefano, NEGRI, Armando, TEDESCHI, Gabriella, MALCOVATI, Massimo, TENCHINI, Maria L., RONCHI, Severino

Journal:

Biochemical Journal

Year:

1997

Language:

english

File:

PDF, 417 KB

english, 1997

42

Whole-gene CFTR sequencing combined with digital RT-PCR improves genetic diagnosis of cystic fibrosis

Straniero, Letizia, Soldà, Giulia, Costantino, Lucy, Seia, Manuela, Melotti, Paola, Colombo, Carla, Asselta, Rosanna, Duga, Stefano

Journal:

Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 553 KB

english, 2016

43

miR-634 is a Pol III-dependent intronic microRNA regulating alternative-polyadenylated isoforms of its host gene PRKCA

Paraboschi, Elvezia Maria, Cardamone, Giulia, Rimoldi, Valeria, Duga, Stefano, Soldà, Giulia, Asselta, Rosanna

Journal:

Biochimica et Biophysica Acta (BBA) - General Subjects

Year:

2017

Language:

english

File:

PDF, 894 KB

english, 2017

44

2,6-Difluorobenzamide inhibitors of the bacterial cell division protein FtsZ: design, synthesis and Structure Activity Relationship study

Straniero, Valentina, VALOTI, ermanno, Zanotto, Carlo, straniero, Letizia, casiraghi, andrea, duga, stefano, radaelli, antonia, de giuli morghen, carlo

Journal:

Year:

2017

Language:

english

File:

PDF, 1.88 MB

english, 2017

45

Exploring the global landscape of genetic variation in coagulation factor XI deficiency

Asselta, Rosanna, Paraboschi, Elvezia Maria, Rimoldi, Valeria, Menegatti, Marzia, Peyvandi, Flora, Salomon, Ophira, Duga, Stefano

Journal:

Year:

2017

Language:

english

File:

PDF, 128 KB

english, 2017

46

Inside Cover: 2,6-Difluorobenzamide Inhibitors of Bacterial Cell Division Protein FtsZ: Design, Synthesis, and Structure-Activity Relationships (ChemMedChem 16/2017)

Straniero, Valentina, Zanotto, Carlo, Straniero, Letizia, Casiraghi, Andrea, Duga, Stefano, Radaelli, Antonia, De Giuli Morghen, Carlo, Valoti, Ermanno

Journal:

Year:

2017

File:

PDF, 4.10 MB

2017

47

The GBAP1 pseudogene acts as a ceRNA for the glucocerebrosidase gene GBA by sponging miR-22-3p

Straniero, Letizia, Rimoldi, Valeria, Samarani, Maura, Goldwurm, Stefano, Di Fonzo, Alessio, Krüger, Rejko, Deleidi, Michela, Aureli, Massimo, Soldà, Giulia, Duga, Stefano, Asselta, Rosanna

Journal:

Scientific Reports

Year:

2017

Language:

english

File:

PDF, 2.56 MB

english, 2017

48

Clinical and molecular characterisation of 21 patients affected by quantitative fibrinogen deficiency

Asselta, Rosanna, Platè, Manuela, Robusto, Michela, Borhany, Munira, Guella, Ilaria, Soldà, Giulia, Afrasiabi, Abdolreza, Menegatti, Marzia, Tahir, Shamsi, Peyvandi, Flora, Duga, Stefano

Journal:

Thrombosis and Haemostasis

Year:

2015

Language:

english

File:

PDF, 648 KB

english, 2015

49

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

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

Journal:

Year:

2013

Language:

english

File:

PDF, 1.20 MB

english, 2013

50

Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis

Chiereghin, Chiara, Robusto, Michela, Mastrangelo, Antonio, Castorina, Pierangela, Montini, Giovanni, Giani, Marisa, Duga, Stefano, Asselta, Rosanna, Soldà, Giulia, Buratti, Emanuele

Journal:

Year:

2017

Language:

english

File:

PDF, 3.05 MB

english, 2017