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1

Intra-Erythrocyte Infusion of Dexamethasone Reduces Neurological Symptoms in Ataxia Teleangiectasia Patients: Results of a Phase 2 Trial

Chessa, Luciana, Leuzzi, Vincenzo, Plebani, Alessandro, Soresina, Annarosa, Micheli, Roberto, D’Agnano, Daniela, Venturi, Tullia, Molinaro, Anna, Fazzi, Elisa, Marini, Mirella, Ferremi Leali, Pierino,

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 234 KB

english, 2014

2

ATM splicing variants as biomarkers for low dose dexamethasone treatment of A-T

Menotta, Michele, Biagiotti, Sara, Spapperi, Chiara, Orazi, Sara, Rossi, Luigia, Chessa, Luciana, Leuzzi, Vincenzo, D’Agnano, Daniela, Soresina, Annarosa, Micheli, Roberto, Magnani, Mauro

Journal:

Orphanet Journal of Rare Diseases

Year:

2017

Language:

english

File:

PDF, 1.31 MB

english, 2017

3

Multi-drugs resistant acne rosacea in a child affected by Ataxia-Telangiectasia: successful treatment with Isotretinoin

Cantarutti, Nicoletta, Claps, Alessia, Angelino, Giulia, Chessa, Luciana, Callea, Francesco, El Hachem, May, Diociaiuti, Andrea, Finocchi, Andrea

Journal:

Italian Journal of Pediatrics

Year:

2015

Language:

english

File:

PDF, 1.28 MB

english, 2015

4

Ataxia-Telangiectasia: Identification and Detection of Founder-Effect Mutations in the ATM Gene in Ethnic Populations

Milhan Telatar, Sharon Teraoka, Zhijun Wang, Helen H. Chun, Teresa Liang, Sergi Castellvi-Bel, Nitin Udar, Anne-Lise Borresen-Dale, Luciana Chessa, Eva Bernatowska-Matuszkiewicz, Oscar Porras, Mitsuno

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 1.26 MB

english, 1998

5

Norman-roberts syndrome: Clinical and molecular genetics studies

Iannetti, Paola, Schwartz, Charles E., Dietz-Band, Jeanne, Light, Elizabeth, Timmerman, Julie, Chessa, Luciana

Journal:

Pediatric Neurology

Year:

1992

Language:

english

File:

PDF, 127 KB

english, 1992

6

Norman-Roberts syndrome: Clinical and molecular studies

Paola Iannetti, Charles E. Schwartz, Jeanne Dietz-Band, Elizabeth Light, Julie Timmerman, Luciana Chessa

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 586 KB

english, 1993

7

Phenotype Expression in a Case of Adult Cystic Fibrosis Caused by an Extremely Rare Compound Heterozygous Genotype (2183AA>G/2789+5G>A)

Capurso, Gabriele, Sbrozzi-Vanni, Andrea, Piane, Maria, Begini, Paola, Panzuto, Francesco, Libi, Fabio, Margagnoni, Giovanna, Capotondi, Carlo, Marignani, Massimo, Chessa, Luciana, Delle Fave, Gianfra

Journal:

Year:

2009

Language:

english

File:

PDF, 1.75 MB

english, 2009

8

Genotype-Phenotype Relationships in Ataxia-Telangiectasia and Variants

Shlomit Gilad, Luciana Chessa, Rami Khosravi, Pamela Russell, Yaron Galanty, Maria Piane, Richard A. Gatti, Timothy J. Jorgensen, Yosef Shiloh, Anat Bar-Shira

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 1.06 MB

english, 1998

9

Founder Effects for ATM Gene Mutations in Italian Ataxia Telangiectasia Families

Luciana Chessa, Maria Piane, Monia Magliozzi, Isabella Torrente, Camilla Savio, Patrizia Lulli, Alessandro De Luca, Bruno Dallapiccola

Journal:

Annals of Human Genetics

Year:

2009

Language:

english

File:

PDF, 861 KB

english, 2009

10

Detection of ATM Gene Mutation in Human Glioma Cell Line M059J by a Rapid Frameshift/Stop Codon Assay in Yeast

Rika Tsuchida, Takayuki Yamada, Masatoshi Takagi, Akira Shimada, Chikashi Ishioka, Yoko Katsuki, Takashi Igarashi, Luciana Chessa, Domenico Delia, Hirobumi Teraoka and Shuki Mizutani

Journal:

Radiation Research

Year:

2002

Language:

english

File:

PDF, 1.42 MB

english, 2002

11

Dexamethasone improves redox state in Ataxia Telangiectasia cells by promoting NRF2-mediated antioxidant response

Biagiotti, Sara, Menotta, Michele, Orazi, Sara, Spapperi, Chiara, Brundu, Serena, Fraternale, Alessandra, Bianchi, Marzia, Rossi, Luigia, Chessa, Luciana, Magnani, Mauro

Journal:

Year:

2016

Language:

english

File:

PDF, 754 KB

english, 2016

12

Nano-Mechanical Characterization of Ataxia Telangiectasia Cells Treated with Dexamethasone

Menotta, Michele, Biagiotti, Sara, Bartolini, Giulia, Marzia, Bianchi, Orazi, Sara, Germani, Aldo, Chessa, Luciana, Magnani, Mauro

Journal:

Cell Biochemistry and Biophysics

Year:

2017

Language:

english

File:

PDF, 3.09 MB

english, 2017

13

Identification of a potential “hotspot” DNA region in the RUNX1 gene targeted by mitoxantrone in therapy-related acute myeloid leukemia with t(16;21) translocation

Tiziana Ottone, Syed Khizer Hasan, Enrico Montefusco, Paola Curzi, Ashley N. Mays, Luciana Chessa, Antonella Ferrari, Esmeralda Conte, Nelida Inés Noguera, Serena Lavorgna, Emanuele Ammatuna, Mariadom

Journal:

Genes, Chromosomes and Cancer

Year:

2009

Language:

english

File:

PDF, 253 KB

english, 2009

14

Ataxia-telangiectasia-mutated dependent phosphorylation of Artemis in response to DNA damage

Ling Chen, Tomohiro Morio, Yoshiyuki Minegishi, Shin-Ichiro Nakada, Masayuki Nagasawa, Kenshi Komatsu, Luciana Chessa, Anna Villa, Daniele Lecis, Domenico Delia, Shuki Mizutani

Journal:

Year:

2005

Language:

english

File:

PDF, 271 KB

english, 2005

15

Cutaneous Venous Malformations Related toKRIT1Mutation: Case Report and Literature Review

Grippaudo, Francesca Romana, Piane, Maria, Amoroso, Matteo, Longo, Benedetto, Penco, Silvana, Chessa, Luciana, Giubettini, Maria, Santanelli, Fabio

Journal:

Journal of Molecular Neuroscience

Year:

2013

Language:

english

File:

PDF, 191 KB

english, 2013

16

Forward subtractive libraries containing genes transactivated by dexamethasone in ataxia-telangiectasia lymphoblastoid cells

Biagiotti, Sara, Menotta, Michele, Giacomini, Elisa, Radici, Lucia, Bianchi, Marzia, Bozzao, Cristina, Chessa, Luciana, Magnani, Mauro

Journal:

Molecular and Cellular Biochemistry

Year:

2014

Language:

english

File:

PDF, 2.28 MB

english, 2014

17

Identification of ATM mutations using extended RT-PCR and restriction endonuclease fingerprinting, and elucidation of the repertoire of A-T mutations in Israel

Shlomit Gilad, Rami Khosravi, Reli Harnik, Yael Ziv, Dganit Shkedy, Yaron Galanty, Moshe Frydman, Jacov Levi, Ozden Sanal, Luciana Chessa, Dominique Smeets, Yosef Shiloh, Anat Bar-Shira

Journal:

Year:

1998

Language:

english

File:

PDF, 196 KB

english, 1998

18

Cutaneous granulomatosis and combined immunodeficiency revealing Ataxia-Telangiectasia: a case report

Laura Folgori, Alessia Scarselli, Giulia Angelino, Francesca Ferrari, Antonio Antoccia, Luciana Chessa, Andrea Finocchi

Journal:

Italian Journal of Pediatrics

Year:

2010

Language:

english

File:

PDF, 323 KB

english, 2010

19

Novel compound heterozygous mutations in a child with Ataxia-Telangiectasia showing unrelated cerebellar disorders

Piane, Maria, Molinaro, Anna, Soresina, Annarosa, Costa, Silvia, Maffeis, Marianna, Germani, Aldo, Pinelli, Lorenzo, Meschini, Roberta, Plebani, Alessandro, Chessa, Luciana, Micheli, Roberto

Journal:

Journal of the Neurological Sciences

Year:

2016

Language:

english

File:

PDF, 1.33 MB

english, 2016

20

Evidence for Detrimental Cross Interactions between Reactive Oxygen and Nitrogen Species in Leber’s Hereditary Optic Neuropathy Cells

Falabella, Micol, Forte, Elena, Magnifico, Maria Chiara, Santini, Paolo, Arese, Marzia, Giuffrè, Alessandro, Radić, Kristina, Chessa, Luciana, Coarelli, Giulia, Buscarinu, Maria Chiara, Mechelli, Rose

Journal:

Oxidative Medicine & Cellular Longevity

Year:

2016

Language:

english

File:

PDF, 1.47 MB

english, 2016

21

Activation of NRF2 by dexamethasone in ataxia telangiectasia cells involves KEAP1 inhibition but not the inhibition of p38

Biagiotti, Sara, Bianchi, Marzia, Rossi, Luigia, Chessa, Luciana, Magnani, Mauro, Gallyas, Ferenc

Journal:

Year:

2019

Language:

english

File:

PDF, 3.89 MB

english, 2019

22

A structural characterization of in situ chromatin on cell lines isolated from patients affected by ataxia telangiectasia

Myriam Grattarola, Sara Spaggiari, Luciana Chessa, Camilla Savio, Claudio Nicolini, Laura Vergani

Journal:

International Journal of Biological Macromolecules

Year:

2003

Language:

english

File:

PDF, 219 KB

english, 2003

23

Detection of ATM Gene Mutation in Human Glioma Cell Line M059J by a Rapid Frameshift/Stop Codon Assay in Yeast

Tsuchida, Rika, Yamada, Takayuki, Takagi, Masatoshi, Shimada, Akira, Ishioka, Chikashi, Katsuki, Yoko, Igarashi, Takashi, Chessa, Luciana, Delia, Domenico, Teraoka, Hirobumi, Mizutani, Shuki

Journal:

Radiation Research

Year:

2002

Language:

english

File:

PDF, 496 KB

english, 2002

24

Biologic Charachterization of Pleural Metastases from Lung Adenocarcinoma: Description of the New DV90 Cell Line

Monti, Franco, Szymczuk, Stefania, Chessa, Luciana, Prudente, Sabrina, Nicoletti, Giordano, Fattori, Pier Paolo, Pini, Emanuela, Desiderio, Franco, Pasquini, Enzo, Tison, Vittorio, Ravaioli, Alberto

Journal:

Year:

1994

Language:

english

File:

PDF, 1.24 MB

english, 1994

25

Six novel ATM mutations in Italian patients with classical ataxia-telangiectasia

Silvia Saviozzi, Alessandro Saluto, Maria Piane, Sabrina Prudente, Nicola Migone, Mario DeMarchi, Alfredo Brusco, Luciana Chessa

Journal:

Year:

2003

Language:

english

File:

PDF, 32 KB

english, 2003

26

Homozygosity for c 6325T>G transition in theATMgene causes an atypical, late-onset variant form of ataxia-telangiectasia

Gabriella Silvestri, Marcella Masciullo, Maria Piane, Camilla Savio, Anna Modoni, Massimo Santoro, Luciana Chessa

Journal:

Journal of Neurology

Year:

2010

Language:

english

File:

PDF, 270 KB

english, 2010

27

l-Carnitine enhances resistance to oxidative stress by reducing DNA damage in Ataxia telangiectasia cells

Andrea Berni, Roberta Meschini, Silvia Filippi, Fabrizio Palitti, Andrea De Amicis, Luciana Chessa

Journal:

Mutation Research/Genetic Toxicology and Environmental Mutagenesis

Year:

2008

Language:

english

File:

PDF, 287 KB

english, 2008

28

Technical advance p53 centrosomal localization diagnoses ataxia-telangiectasia homozygotes and heterozygotes

Prodosmo, Andrea, Amicis, Andrea De, Nisticò, Cecilia, Gabriele, Mario, Rocco, Giuliana Di, Monteonofrio, Laura, Piane, Maria, Cundari, Enrico, Chessa, Luciana, Soddu, Silvia

Year:

2013

Language:

english

File:

PDF, 1.53 MB

english, 2013

29

A Nonneutralizing Human IgM Monoclonal Antibody Inhibiting Hemagglutination of H3N2 Influenza A Strains

CASCINO, ISABELLA, BENEDETTO, ARRIGO, MAZZILLI, MARIA CRISTINA, AMICI, CARLA, CAMPORIONDO, MARIA PIA, TESTA, LUANA, ZANIRATTI, STEFANIA, CHESSA, LUCIANA, GANDINI, ENRICO

Journal:

Year:

1986

Language:

english

File:

PDF, 5.73 MB

english, 1986

30

Current and future therapeutic strategies to treat ataxia telangiectasia

Chessa, Luciana

Journal:

Expert Opinion on Orphan Drugs

Year:

2014

Language:

english

File:

PDF, 428 KB

english, 2014

31

Ataxia-Telangiectasia: Phenotype/Genotype Studies of ATM Protein Expression, Mutations, and Radiosensitivity

Sara G. Becker-Catania, Gang Chen, Mee Jeong Hwang, Zhijun Wang, Xia Sun, Ozden Sanal, Eva Bernatowska-Matuszkiewicz, Luciana Chessa, Eva Y.-H.P. Lee, Richard A. Gatti

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 183 KB

english, 2000

32

Splicing Defects in the Ataxia-Telangiectasia Gene, ATM: Underlying Mutations and Consequences

Sharon N. Teraoka, Milhan Telatar, Sara Becker-Catania, Teresa Liang, Suna Önengüt, Asli Tolun, Luciana Chessa, Özden Sanal, Eva Bernatowska, Richard A. Gatti, Patrick Concannon

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 593 KB

english, 1999

33

Genotype–phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations

van Os, Nienke J H, Chessa, Luciana, Weemaes, Corry M R, van Deuren, Marcel, Fiévet, Alice, van Gaalen, Judith, Mahlaoui, Nizar, Roeleveld, Nel, Schrader, Christoph, Schindler, Detlev, Taylor, Alexand

Journal:

Journal of Medical Genetics

Year:

2019

Language:

english

File:

PDF, 1.23 MB

english, 2019

34

Modifications of nuclear architecture and chromatin organization in ataxia telangiectasia cells are coupled to changes of gene transcription

Myriam Grattarola, Cristina Borghi, Laura Emionite, Patrizia Lulli, Luciana Chessa, Laura Vergani

Journal:

Journal of Cellular Biochemistry

Year:

2006

Language:

english

File:

PDF, 652 KB

english, 2006

35

Syndromes associated with simple calvarial and complex craniofacial anomalies

Paola Iannetti, Luciana Chessa, Giorgio Iannetti

Journal:

Child's Nervous System

Year:

1991

Language:

english

File:

PDF, 631 KB

english, 1991

36

DHPLC Screening of ATM Gene in Italian Patients Affected by Ataxia-Telangiectasia: Fourteen Novel ATM Mutations

Magliozzi, Monia, Piane, Maria, Torrente, Isabella, Sinibaldi, Lorenzo, Rizzo, Giovanni, Savio, Camilla, Lulli, Patrizia, De Luca, Alessandro, Dallapiccola, Bruno, Chessa, Luciana

Journal:

Disease Markers

Year:

2006

Language:

english

File:

PDF, 1.13 MB

english, 2006

37

Efficient DNA base excision repair in ataxia telangiectasia cells

Enrico Cappelli, Ottavio Rossi, Luciana Chessa, Guido Frosina

Journal:

Year:

2000

Language:

english

File:

PDF, 412 KB

english, 2000

38

Translocation Y/5 resulting in Cri du Chat syndrome

P. Vignetti, Luciana Chessa, Lida Bruni, E. Ferrante, B. Dallapiccola

Journal:

Clinical Genetics

Year:

1977

Language:

english

File:

PDF, 240 KB

english, 1977

39

Changes of chromatin condensation in one patient with ataxia telangiectasia disorder: A structural study

Laura Vergani, Giuseppina Fugazza, Luciana Chessa, Claudio Nicolini

Journal:

Journal of Cellular Biochemistry

Year:

1999

Language:

english

File:

PDF, 175 KB

english, 1999

40

Control of cell respiration by nitric oxide in Ataxia Telangiectasia lymphoblastoid cells

Alessandra Masci, Daniela Mastronicola, Marzia Arese, Maria Piane, Andrea De Amicis, Thomas J.J. Blanck, Luciana Chessa, Paolo Sarti

Journal:

Biochimica et Biophysica Acta (BBA) - Bioenergetics

Year:

2008

Language:

english

File:

PDF, 444 KB

english, 2008

41

The Ataxia-Telangiectasia Gene Product, a Constitutively Expressed Nuclear Protein that is not Up-Regulated Following Genome Damage

Kevin D. Brown, Yael Ziv, Sunanda N. Sadanandan, Luciana Chessa, Francis S. Collins, Yosef Shiloh and Danilo A. Tagle

Journal:

Proceedings of the National Academy of Sciences

Year:

1997

Language:

english

File:

PDF, 1.51 MB

english, 1997

42

Clinical delineation of fetal alcohol spectrum disorders (FASD) in Italian children: Comparison and contrast with other racial/ethnic groups and implications for diagnosis and prevention

Mauro Ceccanti, Primavera Alessandra Spagnolo, Luigi Tarani, Maria Luisa Attilia, Luciana Chessa, Rosanna Mancinelli, Michele Stegagno, Guido Francesco Sasso, Marina Romeo, Kenneth L. Jones, Luther K.

Journal:

Neuroscience & Biobehavioral Reviews

Year:

2007

Language:

english

File:

PDF, 163 KB

english, 2007

43

DNA damage-induced cell-cycle phase regulation of p53 and p21waf1 in normal and ATM-defective cells

Delia, Domenico, Fontanella, Enrico, Ferrario, Cristina, Chessa, Luciana, Mizutani, Shuki

Journal:

Year:

2003

Language:

english

File:

PDF, 143 KB

english, 2003

44

Senataxin, Defective in Ataxia Oculomotor Apraxia Type 2, Is Involved in the Defense against Oxidative DNA Damage

Amila Suraweera, Olivier J. Becherel, Philip Chen, Natalie Rundle, Rick Woods, Jun Nakamura, Magtouf Gatei, Chiara Criscuolo, Alessandro Filla, Luciana Chessa, Markus Fußer, Bernd Epe, Nuri Gueven and

Journal:

The Journal of Cell Biology

Year:

2007

Language:

english

File:

PDF, 2.66 MB

english, 2007

45

Increased HK1activity levels in the red cells of a patient with a de novo trisomy 10p: t(Y;10)(p11;p12)

B. Dallapiccola, Luciana Chessa, P. Vignetti, E. Ferrante, E. Gandini

Journal:

Year:

1979

Language:

english

File:

PDF, 294 KB

english, 1979

46

Progress and prospects for treating ataxia telangiectasia

Chessa, Luciana, Ruggieri, Martino, Polizzi, Agata

Journal:

Expert Opinion on Orphan Drugs

Year:

2019

Language:

english

File:

PDF, 1.57 MB

english, 2019

47

ATM and the DNA damage response

Lavin, Martin F, Delia, Domenico, Chessa, Luciana

Journal:

Year:

2006

Language:

english

File:

PDF, 188 KB

english, 2006

48

In vivo effects of dexamethasone on blood gene expression in ataxia telangiectasia

Menotta, Michele, Biagiotti, Sara, Orazi, Sara, Rossi, Luigia, Chessa, Luciana, Leuzzi, Vincenzo, D’Agnano, Daniela, Plebani, Alessandro, Soresina, Annarosa, Magnani, Mauro

Journal:

Molecular and Cellular Biochemistry

Year:

2017

Language:

english

File:

PDF, 3.74 MB

english, 2017

49

Ataxia-telangiectasia

Leuzzi, Vincenzo, D'Agnano, Daniela, Menotta, Michele, Caputi, Caterina, Chessa, Luciana, Magnani, Mauro

Journal:

Neurology: Genetics

Year:

2018

Language:

english

File:

PDF, 321 KB

english, 2018

50

Loss-of-function mutation of theAF9/MLLT3gene in a girl with neuromotor development delay, cerebellar ataxia, and epilepsy

Tiziano Pramparo, Salvatore Grosso, Jole Messa, Adriana Zatterale, Maria Clara Bonaglia, Luciana Chessa, Paolo Balestri, Mariano Rocchi, Orsetta Zuffardi, Roberto Giorda

Journal:

Year:

2005

Language:

english

File:

PDF, 319 KB

english, 2005

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