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1

X-linked emery-dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample

M. Mora, L. Cartegni, C. Di Blasi, R. Barresi, S. Bione, M. Raffaele di Barletta, L. Morandi, L. Merlini, V. Nigro, L. Politano, M. A. Donati, F. Cornelio, F. Cobianchi, D. Toniolo

Journal:

Annals of Neurology

Year:

1997

Language:

english

File:

PDF, 610 KB

english, 1997

2

A preclinical approach for gene therapy of β-thalassemia

Laura Breda, Dorothy A. Kleinert, Carla Casu, Laura Casula, Luca Cartegni, Eitan Fibach, Irene Mancini, Patricia J. Giardina, Roberto Gambari, Stefano Rivella

Journal:

Annals of the New York Academy of Sciences

Year:

2010

Language:

english

File:

PDF, 369 KB

english, 2010

3

LISTENING TO SILENCE AND UNDERSTANDING NONSENSE: EXONIC MUTATIONS THAT AFFECT SPLICING

Cartegni, Luca, Chew, Shern L., Krainer, Adrian R.

Journal:

Nature Reviews Genetics

Year:

2002

Language:

english

File:

PDF, 2.83 MB

english, 2002

4

Induction of Antagonistic Soluble Decoy Receptor Tyrosine Kinases by Intronic PolyA Activation

Sandra Vorlová, Gina Rocco, Clare V. LeFave, Francine M. Jodelka, Ken Hess, Michelle L. Hastings, Erik Henke, Luca Cartegni

Journal:

Year:

2011

Language:

english

File:

PDF, 1.33 MB

english, 2011

5

-decay study of neutron-rich bromine and krypton isotopes

Miernik, K., Rykaczewski, K. P., Grzywacz, R., Gross, C. J., Stracener, D. W., Batchelder, J. C., Brewer, N. T., Cartegni, L., Fijałkowska, A., Hamilton, J. H., Hwang, J. K., Ilyushkin, S. V., Jost, C

Journal:

Physical Review C

Year:

2013

Language:

english

File:

PDF, 803 KB

english, 2013

6

Performance of timing resistive plate chambers with relativistic neutrons from 300 to 1500 MeV

Blanco, A., Adamczewski-Musch, J., Boretzky, K., Cabanelas, P., Cartegni, L., Marques, R. Ferreira, Fonte, P., Fruehauf, J., Galaviz, D., Heil, M., Henriques, A., Ickert, G., Körper, D., Lopes, L., Pa

Journal:

Journal of Instrumentation

Year:

2015

Language:

english

File:

PDF, 1.77 MB

english, 2015

7

Performance of timing Resistive Plate Chambers with protons from 200 to 800 MeV

Machado, J., Adamczewski-Musch, J., Blanco, A., Boretzky, K., Cabanelas, P., Cartegni, L., Marques, R. Ferreira, Fonte, P., Fruehauf, J., Galaviz, D., Heil, M., Henriques, A., .Ickert, G, Körper, D.,

Journal:

Journal of Instrumentation

Year:

2015

Language:

english

File:

PDF, 1.78 MB

english, 2015

8

[WORLD SCIENTIFIC Proceedings of the Fifth International Conference on ICFN5 - Sanibel Island, Florida, USA (4 – 10 November 2012)] Fission and Properties of Neutron-Rich Nuclei - NUCLEAR STRUCTURE OF NEUTRON RICH GADOLINIUM

BREWER, N. T., DOLL, B., BATCHELDER, J. C., CARTEGNI, L., DANIEL, A. V., GROSS, C. J., GRZYWACZ, R., HAMILTON, J. H., HWANG, J. K., ILYUSHKIN, S., JOST, C., KARNY, M., KORGUL, A., KRÖLAS, W., KUŹNIAK,

Language:

english

File:

PDF, 121 KB

english

9

Severe subacute GM2 gangliosidosis caused by an apparently silent HEXA mutation (V324V) that results in aberrant splicing and reduced HEXA mRNA

Brandy A. Wicklow, Jennifer L. Ivanovich, Margot M. Plews, Timothy J. Salo, Michael J. Noetzel, Gregg T. Lueder, Luca Cartegni, Michael M. Kaback, Konrad Sandhoff, Robert D. Steiner, Barbara L. Triggs

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 178 KB

english, 2004

10

Stacked double-pancake coils using Bi-2223/Ag tapes

L. Bigoni, L. Martini, S. Zannella, A. Baldini, S. Conti, R. Garrè, G. Cartegni, L. Rossi, E. Varesi, D. De Tommaso, E. Zampiceni

Journal:

Il Nuovo Cimento D

Year:

1997

Language:

english

File:

PDF, 476 KB

english, 1997

11

10.1038/83762

Krainer, Adrian R., Liu, Hong-Xiang, Cartegni, Luca, Zhang, Michael Q.

Journal:

Nature Genetics

Year:

2001

Language:

english

File:

PDF, 85 KB

english, 2001

12

Peptide-conjugated antisense oligonucleotides for targeted inhibition of a transcriptional regulator in vivo

Henke, Erik, Perk, Jonathan, Vider, Jelena, de Candia, Paola, Chin, Yvette, Solit, David B, Ponomarev, Vladimir, Cartegni, Luca, Manova, Katia, Rosen, Neal

Journal:

Nature Biotechnology

Year:

2008

Language:

english

File:

PDF, 688 KB

english, 2008

13

Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1

Cartegni, Luca, Krainer, Adrian R.

Journal:

Nature Genetics

Year:

2002

Language:

english

File:

PDF, 671 KB

english, 2002

14

Correction of disease-associated exon skipping by synthetic exon-specific activators

Cartegni, Luca, Krainer, Adrian R.

Journal:

Natural Structural Biology

Year:

2003

Language:

english

File:

PDF, 854 KB

english, 2003

15

Bombesin attenuates pre-mRNA splicing of glucocorticoid receptor by regulating the expression of serine-arginine protein p30c (SRp30c) in prostate cancer cells

Jin Zhu, Jun Y. Gong, Oscar B. Goodman Jr., Luca Cartegni, David M. Nanus, Ruoqian Shen

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Cell Research

Year:

2007

Language:

english

File:

PDF, 554 KB

english, 2007

16

Human hnRNP Protein A1 Gene Expression: Structural and Functional Characterization of the Promoter

Giuseppe Biamonti, Maria Teresa Bassi, Luca Cartegni, Fatima Mechta, Massimo Buvoli, Fabio Cobianchi, Silvano Riva

Journal:

Journal of Molecular Biology

Year:

1993

File:

PDF, 1.06 MB

1993

17

hnRNP A1 Selectively Interacts Through its Gly-rich Domain with Different RNA-binding Proteins

Luca Cartegni, Mariacaterina Maconi, Elena Morandi, Fabio Cobianchi, Silvano Riva, Giuseppe Biamonti

Journal:

Journal of Molecular Biology

Year:

1996

Language:

english

File:

PDF, 1.10 MB

english, 1996

18

Oral exfoliative cytology for the non-invasive diagnosis in X-linked Emery–Dreifuss muscular dystrophy patients and carriers

P Sabatelli, S Squarzoni, S Petrini, C Capanni, A Ognibene, L Cartegni, F Cobianchi, L Merlini, D Toniolo, N.M Maraldi

Journal:

Neuromuscular Disorders

Year:

1998

Language:

english

File:

PDF, 1.20 MB

english, 1998

19

Immunocytochemical detection of emerin within the nuclear matrix

S. Squarzoni, P. Sabatelli, A. Ognibene, D. Toniolo, L. Cartegni, F. Cobianchi, S. Petrini, L. Merlini, N.M. Maraldi

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 130 KB

english, 1997

20

Immunocytochemical detection of emerin within the nuclear matrix

S Squarzoni, P Sabatelli, A Ognibene, D Toniolo, L Cartegni, F Cobianchi, S Petrini, L Merlini, N.M Maraldi

Journal:

Neuromuscular Disorders

Year:

1998

Language:

english

File:

PDF, 573 KB

english, 1998

21

BRCA2 T2722R Is a Deleterious Allele That Causes Exon Skipping

James D. Fackenthal, Luca Cartegni, Adrian R. Krainer, Olufunmilayo I. Olopade

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 435 KB

english, 2002

22

Determinants of Exon 7 Splicing in the Spinal Muscular Atrophy Genes, SMN1 and SMN2

Luca Cartegni, Michelle L. Hastings, John A. Calarco, Elisa de Stanchina, Adrian R. Krainer

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 1.17 MB

english, 2006

23

Seemingly Neutral Polymorphic Variants May Confer Immunity to Splicing-Inactivating Mutations: A Synonymous SNP in Exon 5 of MCAD Protects from Deleterious Mutations in a Flanking Exonic Splicing Enhancer

Karsten Bork Nielsen, Suzette Sørensen, Luca Cartegni, Thomas Juhl Corydon, Thomas Koed Doktor, Lisbeth Dahl Schroeder, Line Sinnathamby Reinert, Orly Elpeleg, Adrian R. Krainer, Niels Gregersen, Jørg

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 1.41 MB

english, 2007

24

Xe

Cartegni, L., Mazzocchi, C., Grzywacz, R., Darby, I. G., Liddick, S. N., Rykaczewski, K. P., Batchelder, J. C., Bianco, L., Bingham, C. R., Freeman, E., Goodin, C., Gross, C. J., Guglielmetti, A., Jos

Journal:

Physical Review C

Year:

2012

Language:

english

File:

PDF, 502 KB

english, 2012

25

C: Testing shell model and ab initio approaches

Petri, M., Paschalis, S., Clark, R. M., Fallon, P., Macchiavelli, A. O., Starosta, K., Baugher, T., Bazin, D., Cartegni, L., Crawford, H. L., Cromaz, M., Datta Pramanik, U., de Angelis, G., Dewald, A.

Journal:

Physical Review C

Year:

2012

Language:

english

File:

PDF, 372 KB

english, 2012

26

Apport de la radiographie du second métacarpien pour la détermination de l’âge osseux

Faruch Bilfeld, M., Dedouit, F., Soumah, M., Cartegnie, S., Joffre, F., Rousseau, H., Rougé, D., Telmon, N.

Journal:

Journal de Radiologie

Year:

2008

Language:

french

File:

PDF, 359 KB

french, 2008

27

Antisense modulation of RNA processing as a therapeutic approach in cancer therapy

Spraggon, Lee, Cartegni, Luca

Journal:

Drug Discovery Today: Therapeutic Strategies

Year:

2013

Language:

english

File:

PDF, 1.70 MB

english, 2013

28

Ga

Korgul, A., Rykaczewski, K. P., Grzywacz, R., Śliwińska, H., Batchelder, J. C., Bingham, C., Borzov, I. N., Brewer, N., Cartegni, L., Fijałkowska, A., Gross, C. J., Hamilton, J. H., Jost, C., Karny, M

Journal:

Physical Review C

Year:

2013

Language:

english

File:

PDF, 301 KB

english, 2013

29

ESEfinder: a web resource to identify exonic splicing enhancers

Journal:

Nucleic Acids Research

Year:

2003

Language:

english

File:

PDF, 586 KB

english, 2003

30

Improving productivity by using strategic inventories: Theoretical issues and field results

Brandolese, A., Cartegni, E, Cigolini, R.

Journal:

International Journal of Production Research

Year:

2001

Language:

english

File:

PDF, 340 KB

english, 2001

31

Design, Manufacture, and Test of the ATLAS Magnet System Run Down Units

Baccaglioni, G., Cartegni, G., Cataneo, F., Volpini, G.

Journal:

IEEE Transactions on Appiled Superconductivity

Year:

2006

Language:

english

File:

PDF, 292 KB

english, 2006

32

State in

Petri, M., Fallon, P., Macchiavelli, A. O., Paschalis, S., Starosta, K., Baugher, T., Bazin, D., Cartegni, L., Clark, R. M., Crawford, H. L., Cromaz, M., Dewald, A., Gade, A., Grinyer, G. F., Gros, S.

Journal:

Physical Review Letters

Year:

2011

Language:

english

File:

PDF, 202 KB

english, 2011

33

Statistical analysis of turbulent flux and intermittency in the nonfusion magnetoplasma Blaamann

Fredriksen, A., Riccardi, C., Cartegni, L., Draghi, D., Trasarti-Battistoni, R., Roman, H. E.

Journal:

Physics of Plasmas

Year:

2003

Language:

english

File:

PDF, 696 KB

english, 2003

34

Shape coexistence along

Liddick, S. N., Suchyta, S., Abromeit, B., Ayres, A., Bey, A., Bingham, C. R., Bolla, M., Carpenter, M. P., Cartegni, L., Chiara, C. J., Crawford, H. L., Darby, I. G., Grzywacz, R., Gürdal, G., Ilyush

Journal:

Physical Review C

Year:

2011

Language:

english

File:

PDF, 249 KB

english, 2011

35

and

Liddick, S. N., Abromeit, B., Ayres, A., Bey, A., Bingham, C. R., Brown, B. A., Cartegni, L., Crawford, H. L., Darby, I. G., Grzywacz, R., Ilyushkin, S., Hjorth-Jensen, M., Larson, N., Madurga, M., Mi

Journal:

Physical Review C

Year:

2013

Language:

english

File:

PDF, 323 KB

english, 2013

36

closed shell [Phys. Rev. C 82 , 064314 (2010)]

Padgett, S., Madurga, M., Grzywacz, R., Darby, I. G., Liddick, S. N., Paulauskas, S. V., Cartegni, L., Bingham, C. R., Gross, C. J., Rykaczewski, K., Shapira, D., Stracener, D. W., Mendez, A. J., Wing

Journal:

Physical Review C

Year:

2011

Language:

english

File:

PDF, 27 KB

english, 2011

37

closed shell

Padgett, S., Madurga, M., Grzywacz, R., Darby, I. G., Liddick, S. N., Paulauskas, S. V., Cartegni, L., Bingham, C. R., Gross, C. J., Rykaczewski, K., Shapira, D., Stracener, D. W., Mendez, A. J., Wing

Journal:

Physical Review C

Year:

2010

Language:

english

File:

PDF, 343 KB

english, 2010

38

Development of Bi-2223/Ag tapes and coils

Bigoni, L., Martini, L., Varesi, E., Zampiceni, E., Zannella, S., Baldini, A., Conti, S., Garre, R., Cartegni, G., De Tommaso, D., Rossi, L.

Journal:

IEEE Transactions on Appiled Superconductivity

Year:

1997

Language:

english

File:

PDF, 588 KB

english, 1997

39

decay

Liddick, S. N., Abromeit, B., Ayres, A., Bey, A., Bingham, C. R., Bolla, M., Cartegni, L., Crawford, H. L., Darby, I. G., Grzywacz, R., Ilyushkin, S., Larson, N., Madurga, M., Miller, D., Padgett, S.,

Journal:

Physical Review C

Year:

2012

Language:

english

File:

PDF, 957 KB

english, 2012

40

-process Zn and Ga Isotopes Measured with Electromagnetic Separation

Madurga, M., Surman, R., Borzov, I. N., Grzywacz, R., Rykaczewski, K. P., Gross, C. J., Miller, D., Stracener, D. W., Batchelder, J. C., Brewer, N. T., Cartegni, L., Hamilton, J. H., Hwang, J. K., Liu

Journal:

Physical Review Letters

Year:

2012

Language:

english

File:

PDF, 346 KB

english, 2012

41

Measurements of coherent structures and transport in the full cross section of a magnetized plasma

A. Fredriksen, C. Riccardi, L. Cartegni

Year:

2003

Language:

english

File:

PDF, 366 KB

english, 2003

42

Orbital Dependent Nucleonic Pairing in the Lightest Known Isotopes of Tin

Darby, I. G., Grzywacz, R. K., Batchelder, J. C., Bingham, C. R., Cartegni, L., Gross, C. J., Hjorth-Jensen, M., Joss, D. T., Liddick, S. N., Nazarewicz, W., Padgett, S., Page, R. D., Papenbrock, T.,

Journal:

Physical Review Letters

Year:

2010

Language:

english

File:

PDF, 316 KB

english, 2010

43

MeV purified radioactive beams

Ilyushkin, S. V., Winger, J. A., Gross, C. J., Rykaczewski, K. P., Batchelder, J. C., Cartegni, L., Darby, I. G., Goodin, C., Grzywacz, R., Hamilton, J. H., Korgul, A., Królas, W., Liddick, S. N., Maz

Journal:

Physical Review C

Year:

2009

Language:

english

File:

PDF, 768 KB

english, 2009

44

and the structure of

Ilyushkin, S. V., Winger, J. A., Rykaczewski, K. P., Gross, C. J., Batchelder, J. C., Cartegni, L., Darby, I. G., Grzywacz, R., Hamilton, J. H., Korgul, A., Królas, W., Liddick, S. N., Mazzocchi, C.,

Journal:

Physical Review C

Year:

2011

Language:

english

File:

PDF, 1.08 MB

english, 2011

45

p53 is a transcriptionally inactive p53 isoform able to reprogram cells toward a metastatic-like state

Senturk, S., Yao, Z., Camiolo, M., Stiles, B., Rathod, T., Walsh, A. M., Nemajerova, A., Lazzara, M. J., Altorki, N. K., Krainer, A., Moll, U. M., Lowe, S. W., Cartegni, L., Sordella, R.

Journal:

Proceedings of the National Academy of Sciences

Year:

2014

Language:

english

File:

PDF, 1.56 MB

english, 2014

46

Antitumorigenic potential of STAT3 alternative splicing modulation

Francesca Zammarchi, Elisa de Stanchina, Eirini Bournazou, Teerawit Supakorndej, Kathryn Martires, Elyn Riedel, Adriana D. Corben, Jacqueline F. Bromberg and Luca Cartegni

Journal:

Proceedings of the National Academy of Sciences

Year:

2011

Language:

english

File:

PDF, 1.79 MB

english, 2011

47

Search of Short Circuits in the Superconducting Coils of the ATLAS Detector

Acerbi, E., Baccaglioni, G., Cartegni, G.C., Sorbi, M., Volpini, G.

Journal:

IEEE Transactions on Appiled Superconductivity

Year:

2005

Language:

english

File:

PDF, 240 KB

english, 2005

48

Exonic Splicing Enhancer Motif Recognized by Human SC35 under Splicing Conditions

Liu, H.-X., Chew, S. L., Cartegni, L., Zhang, M. Q., Krainer, A. R.

Journal:

Molecular and Cellular Biology

Year:

2000

Language:

english

File:

PDF, 1.47 MB

english, 2000

49

A Heroin Addiction Severity-Associated Intronic Single Nucleotide Polymorphism Modulates Alternative Pre-mRNA Splicing of the Opioid Receptor Gene OPRM1 via hnRNPH Interactions

Xu, J., Lu, Z., Xu, M., Pan, L., Deng, Y., Xie, X., Liu, H., Ding, S., Hurd, Y. L., Pasternak, G. W., Klein, R. J., Cartegni, L., Zhou, W., Pan, Y.-X.

Journal:

Journal of Neuroscience

Year:

2014

Language:

english

File:

PDF, 3.66 MB

english, 2014

50

Antitumorigenic potential of STAT3 alternative splicing modulation

Zammarchi, F., de Stanchina, E., Bournazou, E., Supakorndej, T., Martires, K., Riedel, E., Corben, A. D., Bromberg, J. F., Cartegni, L.

Journal:

Proceedings of the National Academy of Sciences

Year:

2011

Language:

english

File:

PDF, 874 KB

english, 2011

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