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34 results on '"Spinelli, Pietro"'

2. OS-090 Novel epigenetic editing technology targets hepatitis B virus in vivo to deeply and durably repress viral markers

Author

Anglero-Rodriguez, Yesseinia, primary, Abubucker, Sahar, additional, Xiong, John, additional, Medina, Jhon, additional, Mugambwa, Caroline, additional, Choo-wing, Rayman, additional, Jacques, Carrietta, additional, Acosta, Glen, additional, Clarkson, Scott, additional, Bayne, Kendra, additional, Morrison, Mary, additional, Friedland, Ari, additional, Wong, Narayan, additional, Hoque, Zohan, additional, DiPiazza, Amber, additional, Koppana, Parthu, additional, Hung, Kuo-Chan, additional, Abraham, Sameer, additional, Zhai, Adam, additional, Spinelli, Pietro, additional, Myer, Vic, additional, and Jaffe, Aron, additional

Published
2024
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3. Stentless florence robotic intracorporeal neobladder (FloRIN), a feasibility prospective randomized clinical trial

Author

Lambertini, Luca, primary, Di Maida, Fabrizio, additional, Cadenar, Anna, additional, Nardoni, Samuele, additional, Grosso, Antonio Andrea, additional, Valastro, Francesca, additional, Spinelli, Pietro, additional, Fantechi, Riccardo, additional, Tuccio, Agostino, additional, Vittori, Gianni, additional, Mari, Andrea, additional, Masieri, Lorenzo, additional, and Minervini, Andrea, additional

Published
2023
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8. Dystrophin Cardiomyopathies: Clinical Management, Molecular Pathogenesis and Evolution towards Precision Medicine

Author

D'Amario, Domenico, Gowran, Aoife, Canonico, Francesco, Castiglioni, Elisa, Rovina, Davide, Santoro, Rosaria, Spinelli, Pietro, Adorisio, Rachele, Amodeo, Antonio, Perrucci, Gianluca Lorenzo, Borovac, Josip A, Pompilio, Giulio, Crea, Filippo, Canonico, Francesco (ORCID:0000-0001-6936-4548), Crea, Filippo (ORCID:0000-0001-9404-8846), D'Amario, Domenico, Gowran, Aoife, Canonico, Francesco, Castiglioni, Elisa, Rovina, Davide, Santoro, Rosaria, Spinelli, Pietro, Adorisio, Rachele, Amodeo, Antonio, Perrucci, Gianluca Lorenzo, Borovac, Josip A, Pompilio, Giulio, Crea, Filippo, Canonico, Francesco (ORCID:0000-0001-6936-4548), and Crea, Filippo (ORCID:0000-0001-9404-8846)

Abstract

Duchenne's muscular dystrophy is an X-linked neuromuscular disease that manifests as muscle atrophy and cardiomyopathy in young boys. However, a considerable percentage of carrier females are often diagnosed with cardiomyopathy at an advanced stage. Existing therapy is not disease-specific and has limited effect, thus many patients and symptomatic carrier females prematurely die due to heart failure. Early detection is one of the major challenges that muscular dystrophy patients, carrier females, family members and, research and medical teams face in the complex course of dystrophic cardiomyopathy management. Despite the widespread adoption of advanced imaging modalities such as cardiac magnetic resonance, there is much scope for refining the diagnosis and treatment of dystrophic cardiomyopathy. This comprehensive review will focus on the pertinent clinical aspects of cardiac disease in muscular dystrophy while also providing a detailed consideration of the known and developing concepts in the pathophysiology of muscular dystrophy and forthcoming therapeutic options.

Published
2018

9. Dystrophin Cardiomyopathies: Clinical Management, Molecular Pathogenesis and Evolution towards Precision Medicine

Author

D’Amario, Domenico, primary, Gowran, Aoife, additional, Canonico, Francesco, additional, Castiglioni, Elisa, additional, Rovina, Davide, additional, Santoro, Rosaria, additional, Spinelli, Pietro, additional, Adorisio, Rachele, additional, Amodeo, Antonio, additional, Perrucci, Gianluca, additional, Borovac, Josip, additional, Pompilio, Giulio, additional, and Crea, Filippo, additional

Published
2018
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10. Generation of induced pluripotent stem cells from a Becker muscular dystrophy patient carrying a deletion of exons 45-55 of the dystrophin gene (CCMi002BMD-A-9 ∆45-55)

Author

Gowran, Aoife, primary, Spaltro, Gabriella, additional, Casalnuovo, Federica, additional, Vigorelli, Vera, additional, Spinelli, Pietro, additional, Castiglioni, Elisa, additional, Rovina, Davide, additional, Paganini, Stefania, additional, Di Segni, Marina, additional, Gervasini, Cristina, additional, Nigro, Patrizia, additional, and Pompilio, Giulio, additional

Published
2018
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11. Derivation of the Duchenne muscular dystrophy patient-derived induced pluripotent stem cell line lacking DMD exons 49 and 50 (CCMi001DMD-A-3, ∆ 49, ∆ 50)

Author

Spaltro, Gabriella, primary, Vigorelli, Vera, additional, Casalnuovo, Federica, additional, Spinelli, Pietro, additional, Castiglioni, Elisa, additional, Rovina, Davide, additional, Paganini, Stefania, additional, Di Segni, Marina, additional, Nigro, Patrizia, additional, Gervasini, Cristina, additional, Pompilio, Giulio, additional, and Gowran, Aoife, additional

Published
2017
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13. Analyses fonctionnelles de les ARN hélicases Vasa et TDRD9 dans la voie des piRNA

Author

Spinelli, Pietro and STAR, ABES

Subjects
Arn, endocrine system, [SDV.SA] Life Sciences [q-bio]/Agricultural sciences, Piwi, urogenital system, PiRNA, Moléculaire, Vasa, Rna, Drosophila, Helicase, Dead, Hélicases
Abstract

PIWI proteins are expressed in the gonads (testis and ovary) of animals where they associate with PIWI-interacting RNAs (piRNAs) and silence transposable elements, defending the integrity of the genome. Indeed, animal knock-outs of Piwi proteins display a loss of piRNAs and activation of transposon sequences with catastrophic consequences: block in germ cell development potentially due to genome damage, resulting in infertility. Silencing is achieved either by piRNA-guided endonuclease activity of cytosolic Piwi protein or by recruitment of transcriptional repression machinery on target genomic loci by nuclear Piwi. Biogenesis of piRNAs can be divided in primary and secondary pathway. Primary pathway describes how long single-stranded RNA precursors are processed into mature 25-30 nt piRNAs and loaded into Piwi proteins. Piwi-loaded piRNAs bind and cleave complementary transposon transcripts generating two RNA products, one of which can be loaded into a new Piwi protein, generating a secondary piRNA. Different protein factors are essential in this process as identified by genetic studies. Few of these factors are putative RNA helicases but their specific role is unknown, mainly because RNA helicase are dynamic enzymes and identification of their targets and protein partners with standard biochemical approaches is challenging.In the first part of this thesis I describe how the introduction of a point mutation in the DEAD box of the RNA helicase Vasa (DEAD to DQAD) can block its activity in vivo and freeze a transient biogenesis complex that contains Vasa and the two Piwi proteins responsible for secondary biogenesis.Crystal structure of VASADQ in complex with ATP or AMPPNP revealed the molecular details of this inhibition and explained the phenotype observed in vivo. VasaDQ has a reduced ATP hydrolysis rate because after hydrolysis the free phosphate is blocked inside the active site due to an additional hydrogen bond formed with the mutated Gln. The reduction in ATP hydrolysis is mirrored by an impaired RNA binding activity as measured with biophysical experiments. Introduction of the same mutation in the mouse homologue of Vasa (MVH) has a dominant-negative phenotype where MVHDQ is clump on an ribonucleoprotein (RNP) complex containing piRNAs and mouse Piwi proteins.In the second part of this thesis I introduce the same mutation in TDRD9, another RNA helicase involved in piRNA pathway with an unknown function. First I expressed and purified TDRD9 and showed that DEVH to DQVH mutation in its helicase domain completely abolishes its ATPase activity but do not affects its stability. Next I created a knock-in mutation in the mouse genomic locus for Tdrd9 and analysed the resulting phenotype in the mutant. Knock-in mice are male sterile with an early block in spermatogenesis that is probably a consequence of uncontrolled DNA damages generated by de-repressed transposon elements. These elements, like Line-1, fail to be correctly methylated at their genomic loci in the Tdrd9 mutant. Although Tdrd9 is important for Line-1 transposon silencing, it is likely not via a role in piRNA biogenesis since Piwi proteins are correctly loaded with Line-1 derived piRNAs. Interestingly a drop in piRNAs that derives from SINE elements is observed in the mutant, probably reflecting a role for Tdrd9 in sorting primary transcripts into MILI and MIWI2 during DNA de novo methylation.Overall I investigated the molecular role of two RNA helicases in the piRNA pathway, elucidating the role of Vasa and show that the ATPase activity of Tdrd9 is essential for transposon regulation in mouse spermatogenesis., Les protéines Piwi sont exprimées dans les gonades (testicules et ovaires) des animaux où elles s'associent à des petits ARN nommés piRNAs (Piwi-interaction RNAs) et répriment les éléments transposables, défendant ainsi de l'intégrité du génome. En effet, les animaux knock-out pour les protéines Piwi montrent une perte de piRNAs et une activation des éléments transposables avec des conséquences catastrophiques: l'arrêt du développement des cellules germinales, due potentiellement à des dommages du génome qui entraîne l'infertilité. Le « Silencing » est réalisé soit par l'activité endonucléase guidée par les piRNAs de la protéine Piwi cytosolique ou par le recrutement de la machinerie de répression transcriptionelle sur les loci génomiques des cibles par Piwi nucléaire. La biogenèse des piRNAs peut être divisée en deux voies, une primaire et une secondaire. De longs ARN précurseurs simple-brin sont transformés en piRNAs matures de 25-30 nt qui sont chargés dans les protéines Piwi. Une fois chargée avec le piRNA, Piwi se lie aux transcrits de transposons ayant la séquence complémentaire et les clive en générant deux ARN, dont l'un peut être chargé dans une nouvelle protéine Piwi, produisant un piRNA secondaire. Des études génétiques ont identifié plusieurs facteurs protéiques essentiels à ce processus. Certain de ces facteurs sont des hélicases à ARN dont le rôle spécifique reste inconnu, principalement parce que ce sont des enzymes dynamiques et l'identification de leurs cibles et leurs partenaires protéiques avec des approches biochimiques standards est difficile.Dans la première partie de cette thèse nous décrivons comment l'introduction d'une mutation ponctuelle dans la boîte DEAD de l'hélicase à ARN Vasa (DEAD à DQAD) peut bloquer son activité in vivo et figer le complexe transitoire de biogenèse qui contient VASA et les deux protéines Piwi responsables de la biogenèse secondaire.La résolution de la structure de VASADQ en complexe avec l'ATP ou l'AMPPNP a révélé les détails moléculaires de cette inhibition et a expliqué le phénotype observé in vivo. VASADQ a un taux d'hydrolyse de l'ATP réduit, car après hydrolyse, le phosphate libre est bloqué à l'intérieur du site actif en raison d'une liaison hydrogène supplémentaire formée avec la Gln mutée. La réduction de l'hydrolyse de l'ATP se traduit par une faible liaison à l'ARN mesurée par des expériences biophysiques. L'introduction de la même mutation chez l'homologue murin de VASA (MVH) produit un phénotype de dominant négatif où MVHDQ est agglutinée sur le complexe RNP contenant les protéines Piwi et les piRNAs.Dans la deuxième partie de cette thèse, nous avons introduit la même mutation dans TDRD9, une autre hélicase à ARN impliquée dans la voie des piRNAs mais dont la fonction est inconnue. Nous avons d'abord exprimé, purifié TDRD9 et montré que la mutation dans son domaine hélicase DEVH à DQVH abolit complètement son activité ATPase sans impacter sur sa stabilité. Par la suite, nous avons généré une souris Knock-in et analysé son phénotype. Les souris Knock-in mâles sont stériles et présentent un blocage au début de la spermatogenèse qui est probablement une conséquence des dommages de l'ADN générés par l'activation des éléments transposables. Ces éléments, comme Line-1, présentent un défaut de méthylation à leur loci génomiques, mais qui ne semble pas être contrôlé par la voie piRNA dans le mutant, étant donné que les protéines Piwis sont correctement chargées avec les piRNAs dérivés de Line-1.Dans l'ensemble, nous avons étudié le rôle moléculaire de deux hélicases à ARN dans la voie des piRNAs, nous avons élucidé le rôle de VASA et nous montrons que l'activité ATPase de TDRD9 est essentielle pour la régulation des transposons au cours de la spermatogenèse de la souris.

Published
2015

15. Durable Multiplex Epigenetic Editing for Generation of Allogeneic CAR T without Chromosomal Rearrangements

Author

Schafer, Jamie, Trombley, Justin, Hallisey, Benjamin, Ahmad, Kunza, Clarkson, Scott, Udo, Thijs, Collins, McKensie, Kehoe, Laura, Hildebrand, Erica, Schneider, Kaylie, Hung, Kuo-Chan, Ramirez, Ricardo N, Morrison, Mary, Maeder, Morgan, Abubucker, Sahar, Friedland, Ari, Spinelli, Pietro, Myer, Vic, and Jaffe, Aron

Abstract

CAR T therapies have provided significant breakthroughs for patients with CD19+ malignancies and multiple myeloma, but a major limitation is the need for individualized manufacturing of autologous T cells, increasing the cost and reducing the availability of these life-saving drugs. An allogeneic CAR T product, available off-the-shelf, could greatly reduce manufacturing burden and improve access to therapy. To date, allogeneic CAR T clinical trials have shown limited durable responses and have reduced only TCR expression to avoid a graft versus host response. Further editing to reduce MHC class I and II expression may produce a cell resistant to allogeneic CD4+ and CD8+ T cell rejection to potentially improve allogeneic CAR T persistence. Conventional genome editing technologies that rely on double or single stranded DNA breaks have the potential to introduce genomic changes including translocations, especially when multiple edits are introduced. Epigenetic editing, in contrast, enables durable modulation of gene expression without cutting or nicking the DNA sequence and is extremely well-suited for simultaneous targeting of multiple genes to enable generation of persistent allogeneic CAR T cells.

Published
2023
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17. Discovery Of Very High Energy Gamma Rays From Pks 1424+240 And Multiwavelength Constraints On Its Redshift

Author

Acciari, V. A., Aliu, E., Arlen, T., Aune, T., Bautista, M., Beilicke, M., Benbow, W., Böttcher, M., Boltuch, D., Bradbury, S. M., Buckley, J. H., Bugaev, V., Byrum, K., Cannon, A., Cesarini, A., Chow, Y. C., Ciupik, L., Cogan, P., Cui, W., Duke, C., Falcone, A., Finley, J. P., Finnegan, G., Fortson, L., Furniss, A., Galante, N., Gall, D., Gillanders, G. H., Godambe, S., Grube, J., Guenette, R., Gyuk, G., Hanna, D., Holder, J., Hui, C. M., Humensky, T. B., Kaaret, P., Karlsson, N., Kertzman, M., Kieda, D., Konopelko, A., Krawczynski, H., Krennrich, F., Lang, M. J., Lebohec, S., Maier, G., Mcarthur, S., Mccann, A., Mccutcheon, M., Millis, J., Moriarty, P., Nagai, T., Ong, R. A., Otte, A. N., Pandel, D., Perkins, J. S., Pichel, A., Pohl, M., Quinn, J., Ragan, K., Reyes, L. C., Reynolds, P. T., Roache, E., Rose, H. J., Schroedter, M., Sembroski, G. H., Demet Senturk, G., Smith, A. W., Steele, D., Swordy, S. P., Theiling, M., Thibadeau, S., Varlotta, A., Vassiliev, V. V., Vincent, S., Wagner, R. G., Wakely, S. P., Ward, J. E., Weekes, T. C., Weinstein, A., Weisgarber, T., Williams, D. A., Wissel, S., Wood, M., Zitzer, B., Abdo, A. A., Ackermann, M., Ajello, M., Baldini, L., Ballet, J., Barbiellini, G., Bastieri, D., Baughman, B. M., Bechtol, K., Bellazzini, R., Berenji, B., Blandford, R. D., Bloom, E. D., Bonamente, E., Borgland, A. W., Bregeon, J., Brez, A., Brigida, Monica, Bruel, P., Burnett, T. H., Caliandro, G. A., Cameron, R. A., Caraveo, P. A., Casandjian, J. M., Cavazzuti, E., Cecchi, C., Çelik, Ö., Chekhtman, A., Cheung, C. C., Chiang, J., Ciprini, S., Claus, R., Cohen-Tanugi, J., Conrad, J., Cutini, S., Dermer, C. D., De Angelis, A., De Palma, F., Do Couto E Silva, E., Drell, P. S., Drlica-Wagner, A., Dubois, R., Dumora, D., Farnier, C., Favuzzi, C., Fegan, S. J., Focke, W. B., Fortin, P., Frailis, M., Fukazawa, Y., Fusco, P., Gargano, F., Gasparrini, D., Gehrels, N., Germani, S., Giebels, B., Giglietto, N., Giommi, P., Giordano, F., Glanzman, T., Godfrey, G., Grenier, I. A., Grove, J. E., Guillemot, L., Guiriec, S., Hanabata, Y., Hays, E., Hughes, R. E., Jackson, M. S., Jóhannesson, G., Johnson, A. S., Johnson, W. N., Kamae, T., Katagiri, H., Kataoka, J., Kawai, N., Kerr, M., Knödlseder, J., Kocian, M. L., Kuss, M., Lande, J., Latronico, L., Longo, F., Loparco, F., Lott, B., Lovellette, M. N., Lubrano, P., Madejski, G. M., Makeev, A., Mazziotta, M. N., Mcenery, J. E., Meurer, C., Michelson, P. F., Mitthumsiri, W., Mizuno, T., Moiseev, A. A., Monte, Claudia, Monzani, M. E., Morselli, A., Moskalenko, I. V., Murgia, S., Nolan, P. L., Norris, J. P., Nuss, E., Ohsugi, T., Omodei, N., Orlando, E., Ormes, J. F., Paneque, D., Parent, D., Pelassa, V., Pepe, M., Pesce-Rollins, M., Piron, F., Porter, T. A., Rainò, S., Rando, R., Razzano, M., Reimer, A., Reimer, O., Reposeur, T., Rodriguez, A. Y., Roth, M., Ryde, F., Sadrozinski, H. F. -W., Sanchez, D., Sander, A., Saz Parkinson, P. M., Scargle, J. D., Sgrò, C., Shaw, M. S., Siskind, E. J., Smith, P. D., Spandre, G., Spinelli, Pietro, Strickman, M. S., Suson, D. J., Tajima, H., Takahashi, H., Tanaka, T., Thayer, J. B., Thayer, J. G., Thompson, D. J., Tibaldo, L., Torres, D. F., Tosti, G., Tramacere, A., Uchiyama, Y., Usher, T. L., Vasileiou, V., Vilchez, N., Vitale, V., Waite, A. P., Wang, P., Winer, B. L., Wood, K. S., Ylinen, T., Ziegler, M., Barber, S. D., Terndrup, D. M., 2010, 1088/2041-8205/708/2/L100, 10., Article, Scopus, 2-s2. 0-77949547554, Acciari, V. A., Aliu, E., Arlen, T., Aune, T., Bautista, M., Beilicke, M., Benbow, W., Bottcher, M., Boltuch, D., Bradbury, S. M., Buckley, J. H., Bugaev, V., Byrum, K., Cannon, A., Cesarini, A., Chow, Y. C., Ciupik, L., Cogan, P., Cui, W., Duke, C., Falcone, A., Finley, J. P., Finnegan, G., Fortson, L., Furniss, A., Galante, N., Gall, D., Gillanders, G. H., Godambe, S., Grube, J., Guenette, R., Gyuk, G., Hanna, D., Holder, J., Hui, C. M., Humensky, T. B., Kaaret, P., Karlsson, N., Kertzman, M., Kieda, D., Konopelko, A., Krawczynski, H., Krennrich, F., Lang, M. J., Lebohec, S., Maier, G., Mcarthur, S., Mccann, A., Mccutcheon, M., Millis, J., Moriarty, P., Nagai, T., Ong, R. A., Otte, A. N., Pandel, D., Perkins, J. S., Pichel, A., Pohl, M., Quinn, J., Ragan, K., Reyes, L. C., Reynolds, P. T., Roache, E., Rose, H. J., Schroedter, M., Sembroski, G. H., Senturk, G. D., Smith, A. W., Steele, D., Swordy, S. P., Theiling, M., Thibadeau, S., Varlotta, A., Vassiliev, V. V., Vincent, S., Wagner, R. G., Wakely, S. P., Ward, J. E., Weekes, T. C., Weinstein, A., Weisgarber, T., Williams, D. A., Wissel, S., Wood, M., Zitzer, B., Abdo, A. A., Ackermann, M., Ajello, M., Baldini, L., Ballet, J., Barbiellini, G., Bastieri, D., Baughman, B. M., Bechtol, K., Bellazzini, R., Berenji, B., Blandford, R. D., Bloom, E. D., Bonamente, E., Borgland, A. W., Bregeon, J., Brez, A., Brigida, M., Bruel, P., Burnett, T. H., Caliandro, G. A., Cameron, R. A., Caraveo, P. A., Casandjian, J. M., Cavazzuti, E., Cecchi, C., Celik, O., Chekhtman, A., Cheung, C. C., Chiang, J., Ciprini, S., Claus, R., Cohen Tanugi, J., Conrad, J., Cutini, S., Dermer, C. D., Angelis, A. d., Palma, F. d., Silva, E. D. E., Drell, P. S., Drlica Wagner, A., Dubois, R., Dumora, D., Farnier, C., Favuzzi, C., Fegan, S. J., Focke, W. B., Fortin, P., Frailis, M., Fukazawa, Y., Fusco, P., Gargano, F., Gasparrini, D., Gehrels, N., Germani, S., Giebels, B., Giglietto, N., Giommi, P., Giordano, F., Glanzman, T., Godfrey, G., Grenier, I. A., Grove, J. E., Guillemot, L., Guiriec, S., Hanabata, Y., Hays, E., Hughes, R. E., Jackson, M. S., Johannesson, G., Johnson, A. S., Johnson, W. N., Kamae, T., Katagiri, H., Kataoka, J., Kawai, N., Kerr, M., Knodlseder, J., Kocian, M. L., Kuss, M., Lande, J., Latronico, L., Longo, Francesco, Loparco, F., Lott, B., Lovellette, M. N., Lubrano, P., Madejski, G. M., Makeev, A., Mazziotta, M. N., Mcenery, J. E., Meurer, C., Michelson, P. F., Mitthumsiri, W., Mizuno, T., Moiseev, A. A., Monte, C., Monzani, M. E., Morselli, A., Moskalenko, I. V., Murgia, S., Nolan, P. L., Norris, J. P., Nuss, E., Ohsugi, T., Omodei, N., Orlando, E., Ormes, J. F., Paneque, D., Parent, D., Pelassa, V., Pepe, M., Pesce Rollins, M., Piron, F., Porter, T. A., Raino, S., Rando, R., Razzano, M., Reimer, A., Reimer, O., Reposeur, T., Rodriguez, A. Y., Roth, M., Ryde, F., Sadrozinski, H. F. W., Sanchez, D., Sander, A., Parkinson, P. M. S., Scargle, J. D., Sgro, C., Shaw, M. S., Siskind, E. J., Smith, P. D., Spandre, G., Spinelli, P., Strickman, M. S., Suson, D. J., Tajima, H., Takahashi, H., Tanaka, T., Thayer, J. B., Thayer, J. G., Thompson, D. J., Tibaldo, L., Torres, D. F., Tosti, G., Tramacere, A., Uchiyama, Y., Usher, T. L., Vasileiou, V., Vilchez, N., Vitale, V., Waite, A. P., Wang, P., Winer, B. L., Wood, K. S., Ylinen, T., Ziegler, M., Barber, S. D., Terndrup, D. M., Astrophysique Interprétation Modélisation (AIM (UMR_7158 / UMR_E_9005 / UM_112)), Centre National de la Recherche Scientifique (CNRS)-Institut national des sciences de l'Univers (INSU - CNRS)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Diderot - Paris 7 (UPD7), Laboratoire Leprince-Ringuet (LLR), Centre National de la Recherche Scientifique (CNRS)-École polytechnique (X)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3), Laboratoire de Physique Théorique et Astroparticules (LPTA), Université Montpellier 2 - Sciences et Techniques (UM2)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS), Centre d'Etudes Nucléaires de Bordeaux Gradignan (CENBG), Université Sciences et Technologies - Bordeaux 1-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS), Centre d'étude spatiale des rayonnements (CESR), Observatoire Midi-Pyrénées (OMP), Météo France-Centre National d'Études Spatiales [Toulouse] (CNES)-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Météo France-Centre National d'Études Spatiales [Toulouse] (CNES)-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Centre National de la Recherche Scientifique (CNRS)-Institut national des sciences de l'Univers (INSU - CNRS)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées, Fermi-LAT, Astrophysique Interprétation Modélisation (AIM (UMR7158 / UMR_E_9005 / UM_112)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut national des sciences de l'Univers (INSU - CNRS)-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-École polytechnique (X)-Centre National de la Recherche Scientifique (CNRS), Université Sciences et Technologies - Bordeaux 1 (UB)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut national des sciences de l'Univers (INSU - CNRS)-Observatoire Midi-Pyrénées (OMP), Institut de Recherche pour le Développement (IRD)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut national des sciences de l'Univers (INSU - CNRS)-Centre National d'Études Spatiales [Toulouse] (CNES)-Centre National de la Recherche Scientifique (CNRS)-Météo-France -Institut de Recherche pour le Développement (IRD)-Institut national des sciences de l'Univers (INSU - CNRS)-Centre National d'Études Spatiales [Toulouse] (CNES)-Centre National de la Recherche Scientifique (CNRS)-Météo-France -Centre National de la Recherche Scientifique (CNRS), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut national des sciences de l'Univers (INSU - CNRS)-Observatoire Midi-Pyrénées (OMP), and Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)

Subjects
[PHYS.ASTR.HE]Physics [physics]/Astrophysics [astro-ph]/High Energy Astrophysical Phenomena [astro-ph.HE], Cosmology and Nongalactic Astrophysics (astro-ph.CO), spectra, Astrophysics::High Energy Astrophysical Phenomena, bl-lacertae objects, blazars, Flux, FOS: Physical sciences, Fermi satellite, Astrophysics, Astrophysics::Cosmology and Extragalactic Astrophysics, 7. Clean energy, 01 natural sciences, High Energy Gamma-ray Astronomy, bl lacertae objects: individual (pks 1424+240=ver j1427+237), gamma rays: observations, BL Lacertae objects: individual (PKS 1424+240 = VER J1427+237), gamma rays: observations, Observatory, veritas, emission, 0103 physical sciences, 010303 astronomy & astrophysics, Physics, High Energy Astrophysical Phenomena (astro-ph.HE), 010308 nuclear & particles physics, [SDU.ASTR.HE]Sciences of the Universe [physics]/Astrophysics [astro-ph]/High Energy Astrophysical Phenomena [astro-ph.HE], Gamma ray, background-radiation, Astronomy and Astrophysics, Active Galactic Nuclei, Redshift, astronomy, large-area telescope, mission, Extragalactic background light, 13. Climate action, Space and Planetary Science, Very High Energy Gamma-ray Astronomy, source list, ddc:520, Spectral energy distribution, High Energy Physics::Experiment, Astrophysics - High Energy Astrophysical Phenomena, BL Lac object, Fermi Gamma-ray Space Telescope, Astrophysics - Cosmology and Nongalactic Astrophysics
Abstract

We report the first detection of very-high-energy (VHE) gamma-ray emission above 140 GeV from PKS 1424+240, a BL Lac object with an unknown redshift. The photon spectrum above 140 GeV measured by VERITAS is well described by a power law with a photon index of 3.8 +- 0.5_stat +- 0.3_syst and a flux normalization at 200 GeV of (5.1 +- 0.9_stat +- 0.5_syst) x 10^{-11} TeV^-1 cm^-2 s^-1, where stat and syst denote the statistical and systematical uncertainty, respectively. The VHE flux is steady over the observation period between MJD 54881 and 55003 (2009 February 19 to June 21). Flux variability is also not observed in contemporaneous high energy observations with the Fermi Large Area Telescope (LAT). Contemporaneous X-ray and optical data were also obtained from the Swift XRT and MDM observatory, respectively. The broadband spectral energy distribution (SED) is well described by a one-zone synchrotron self-Compton (SSC) model favoring a redshift of less than 0.1. Using the photon index measured with Fermi in combination with recent extragalactic background light (EBL) absorption models it can be concluded from the VERITAS data that the redshift of PKS 1424+240 is less than 0.66., Comment: accepted for publication, ApJ

Published
2010
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18. Typicality of words produced on a semantic fluency task in amnesic mild cognitive impairment: linguistic analysis and risk of conversion to dementia

Author

Vita, Maria Gabriella, Marra, Camillo, Spinelli, Pietro, Caprara, Alessia, Scaricamazza, Eugenia, Castelli, Diana, Canulli, Serena, Gainotti, Guido, Quaranta, Davide, Marra, Camillo (ORCID:0000-0003-3994-4044), Vita, Maria Gabriella, Marra, Camillo, Spinelli, Pietro, Caprara, Alessia, Scaricamazza, Eugenia, Castelli, Diana, Canulli, Serena, Gainotti, Guido, Quaranta, Davide, and Marra, Camillo (ORCID:0000-0003-3994-4044)

Abstract

Semantic and, to a lesser extent, phonological verbal fluency tasks are impaired in Alzheimer's disease (AD) and in amnesic mild cognitive impairment (aMCI). Furthermore, both fluency tasks have been considered as possible markers of conversion from aMCI to AD. Up to recent years, the use of fluency tasks has been limited to word count, but, more recently, linguistic variables, such as word frequency, age of acquisition, familiarity, and typicality, have also been considered. In particular, attention has been focused on typicality of words produced on semantic verbal fluency tasks, because the tendency to produce only the more typical members of various categories points to an impoverishment of semantic memory. The aim of our study was to compare in aMCI, AD, and control subjects a lexical (word frequency) and a lexical-semantic variable (item typicality) in a semantic verbal fluency task, and to evaluate the possible value of these variables in predicting conversion from aMCI to AD during a 2 years follow-up period. We found no difference in mean typicality of words produced by aMCI and AD subjects whereas both groups produced words of higher mean typicality than control subjects. Furthermore, to assess the relationship between typicality values and risk of conversion to AD, the aMCI group was split in two subgroups, including subjects who obtained a mean typicality value lower or higher than the median value of the whole aMCI group. Consistent with our hypothesis, conversion to AD was significantly more frequent in high typicality than in low typicality subjects.

Published
2014

21. RNA Clamping by Vasa Assembles a piRNA Amplifier Complex on Transposon Transcripts

Author

Xiol, Jordi, primary, Spinelli, Pietro, additional, Laussmann, Maike A., additional, Homolka, David, additional, Yang, Zhaolin, additional, Cora, Elisa, additional, Couté, Yohann, additional, Conn, Simon, additional, Kadlec, Jan, additional, Sachidanandam, Ravi, additional, Kaksonen, Marko, additional, Cusack, Stephen, additional, Ephrussi, Anne, additional, and Pillai, Ramesh S., additional

Published
2014
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22. The evaluation of sources of knowledge underlying different conceptual categories

Author

Gainotti, Guido, Spinelli, Pietro, Scaricamazza, Eugenia, Marra, Camillo, Marra, Camillo (ORCID:0000-0003-3994-4044), Gainotti, Guido, Spinelli, Pietro, Scaricamazza, Eugenia, Marra, Camillo, and Marra, Camillo (ORCID:0000-0003-3994-4044)

Abstract

According to the "embodied cognition" theory and the "sensory-motor model of semantic knowledge": (a) concepts are represented in the brain in the same format in which they are constructed by the sensory-motor system and (b) various conceptual categories differ according to the weight of different kinds of information in their representation. In this study, we tried to check the second assumption by asking normal elderly subjects to subjectively evaluate the role of various perceptual, motor and language-mediated sources of knowledge in the construction of different semantic categories. Our first aim was to rate the influence of different sources of knowledge in the representation of animals, plant life and artifact categories, rather than in living and non-living beings, as many previous studies on this subject have done. We also tried to check the influence of age and stimulus modality on these evaluations of the "sources of knowledge" underlying different conceptual categories. The influence of age was checked by comparing results obtained in our group of elderly subjects with those obtained in a previous study, conducted with a similar methodology on a sample of young students. And the influence of stimulus modality was assessed by presenting the stimuli in the verbal modality to 50 subjects and in the pictorial modality to 50 other subjects. The distinction between "animals" and "plant life" in the "living" categories was confirmed by analyzing their prevalent sources of knowledge and by a cluster analysis, which allowed us to distinguish "plant life" items from animals. Furthermore, results of the study showed: (a) that our subjects considered the visual modality as the main source of knowledge for all categories taken into account; and (b) that in biological categories the next most important source of information was represented by other perceptual modalities, whereas in artifacts it was represented by the actions performed with them. Finally, age and stimul

Published
2013

23. Asymmetries in gender-related familiarity with different semantic categories. Data from normal adults

Author

Gainotti, Guido, Spinelli, Pietro, Scaricamazza, Eugenia, Marra, Camillo, Marra, Camillo (ORCID:0000-0003-3994-4044), Gainotti, Guido, Spinelli, Pietro, Scaricamazza, Eugenia, Marra, Camillo, and Marra, Camillo (ORCID:0000-0003-3994-4044)

Abstract

The mechanisms subsuming the brain organization of categories and the corresponding gender related asymmetries are controversial. Some authors believe that the brain organization of categories is innate, whereas other authors maintain that it is shaped by experience. According to these interpretations, gender-related asymmetries should respectively be inborn or result from the influence of social roles. In a previous study, assessing the familiarity of young students with different 'biological' and 'artefact' categories, we had observed no gender-related difference on any of these categories. Since these data could be due to the fact that our students belonged to a generation in which the traditional social roles have almost completely disappeared, we predicted that gender-related asymmetries should be found in older men and women. The familiarity of young and elderly men and women with various semantic categories was, therefore, studied presenting in the verbal and pictorial modality different kinds of living and artefact categories. Results confirmed the hypothesis, because elderly women showed a greater familiarity for flowers and elderly men for animals. These findings are consistent with the hypothesis assuming that gender-related asymmetries for different semantic categories is due to the influence of gender-related social roles.

Published
2013

24. Cognitive and behavioural changes after deep brain stimulation of the subthalamic nucleus in Parkinson’s disease

Author

Daniele, Antonio (ORCID:0000-0003-1641-5852), Spinelli, Pietro, Piccininni, Chiara, Daniele, Antonio (ORCID:0000-0003-1641-5852), Spinelli, Pietro, and Piccininni, Chiara

Abstract

Cognitive and behavioural disturbances in patients with Parkinson’s disease seem to be relatively more frequent after deep brain stimulation of the subthalamic nucleus, as compared with deep brain stimulation of the internal globus pallidus. This finding might be at least partially due to the fact that the subthalamic nucleus is a smaller target, with different neural circuits (motor, associative, and limbic circuits) in close proximity to each other. Thus, electrode misplacements or current spreading to non-motor circuits involving the subthalamic nucleus may give rise to cognitive and behavioural disturbances after subthalamic implants.On the whole, nonetheless, most studies agree about the view that the cognitive and behavioural morbidity of deep brain stimulation of the subthalamic nucleus in patients with Parkinson’s disease can be considered relatively low, even in the long term, provided that appropriate criteria are used to select candidates for neurosurgery. Further studies are certainly needed to elucidate the pathophysiological mechanisms underlying the postoperative cognitive and behavioural changes which may be observed in Parkinsonian patients treated by deep brain stimulation of the subthalamic nucleus

Published
2012

25. Selective impairment of action-verb naming and comprehension in progressive supranuclear palsy

Author

Daniele, Antonio, Barbier, Annalisa, Di Giuda, Daniela, Vita, Maria Gabriella, Piccininni, Chiara, Spinelli, Pietro, Fasano, Alfonso, Colosimo, Cesare, Giordano, Alessandro, Gainotti, Guido, Tondo, G, Daniele, Antonio (ORCID:0000-0003-1641-5852), Di Giuda, Daniela (ORCID:0000-0002-5758-3986), Colosimo, Cesare (ORCID:0000-0003-3800-3648), Daniele, Antonio, Barbier, Annalisa, Di Giuda, Daniela, Vita, Maria Gabriella, Piccininni, Chiara, Spinelli, Pietro, Fasano, Alfonso, Colosimo, Cesare, Giordano, Alessandro, Gainotti, Guido, Tondo, G, Daniele, Antonio (ORCID:0000-0003-1641-5852), Di Giuda, Daniela (ORCID:0000-0002-5758-3986), and Colosimo, Cesare (ORCID:0000-0003-3800-3648)

Abstract

Some previous studies in brain-damaged patients suggested that neural systems in the left temporal lobe might be crucial in the production and comprehension of nouns, while analogous systems in posterior frontal cortical areas might be involved in the production and comprehension of verbs. We assessed performance on neuropsychological tasks of production and comprehension of nouns and action-verbs in 10 patients with progressive supranuclear palsy (PSP) and in 10 age-matched healthy controls. PSP patients also underwent measurements of regional cerebral blood flow by means of single photon emission computed tomography (SPECT), using 99mTc-Ethyl Cysteinate Dimer. In all PSP patients, SPECT showed a significant hypoperfusion in the inferior frontal gyrus (IFG). PSP patients performed significantly worse than controls on all lexical-semantic tasks, except for the auditory lexical decision task on nouns. Within PSP patients, however, a significantly lower performance was observed on action-verbs as compared to nouns on various lexical-semantic tasks (oral and written confrontation naming, auditory and visual single-word comprehension). Analysis of individual performance revealed heterogeneous patterns of neuropsychological impairment in different PSP patients. Despite some difficulty in drawing clear-cut conclusions about the locus of functional damage, we hypothesise that in most of our PSP patients such selective impairment in the production and in the comprehension of action-verbs could be due to semantic deficits affecting the conceptual category of actions. These findings are consistent with the hypothesis that in PSP a dysfunction of neural systems in posterior frontal cortical areas (mainly involving the IFG) critical for processing the conceptual category of actions might result in a selective impairment of production and comprehension of action-verbs.

Published
2012

26. Spontaneous recovery from anti-NMDAR encephalitis

Author

Evoli Stampanoni-B, Amelia, Spinelli, Pietro, Frisullo, Giovanni, Alboini, Pe, Servidei, Serenella, Marra, Camillo, Evoli, Amelia (ORCID:0000-0003-0282-8787), Servidei, Serenella (ORCID:0000-0001-8478-2799), Marra, Camillo (ORCID:0000-0003-3994-4044), Evoli Stampanoni-B, Amelia, Spinelli, Pietro, Frisullo, Giovanni, Alboini, Pe, Servidei, Serenella, Marra, Camillo, Evoli, Amelia (ORCID:0000-0003-0282-8787), Servidei, Serenella (ORCID:0000-0001-8478-2799), and Marra, Camillo (ORCID:0000-0003-3994-4044)

Abstract

Encephalitis associated with antibodies (Abs) to the N-methyl-D-aspartate receptor (NMDAR) can occur in a paraneoplastic or non-paraneoplastic form. We report a young woman with non-paraneoplastic anti-NMDAR encephalitis who experienced spontaneous recovery.

Published
2012

32. RNA Clamping by Vasa Assembles a piRNA Amplifier Complex on Transposon Transcripts

Author

Jordi Xiol, Stephen Cusack, Yohann Couté, Maike A. Laussmann, Elisa Cora, David Homolka, Simon J. Conn, Ravi Sachidanandam, Ramesh S. Pillai, Anne Ephrussi, Pietro Spinelli, Zhaolin Yang, Jan Kadlec, Marko Kaksonen, Laboratoire européen de biologie moléculaire - European Molecular Biology Laboratory (EMBL Grenoble), European Molecular Biology Laboratory [Grenoble] (EMBL), Laboratoire d'étude de la dynamique des protéomes (LEDyP), Université Joseph Fourier - Grenoble 1 (UJF)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Unit for Virus Host-Cell Interactions [Grenoble] (UVHCI), Université Joseph Fourier - Grenoble 1 (UJF)-European Molecular Biology Laboratory [Grenoble] (EMBL)-Centre National de la Recherche Scientifique (CNRS), Institut de biologie structurale (IBS - UMR 5075 ), Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019])-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Cold Spring Harbor Laboratory, European Molecular Biology Laboratory [Heidelberg] (EMBL), Xiol, Jordi, Spinelli, Pietro, Laussmann, Maike A, Homolka, David, Yang, Zhaolin, Cora, Elisa, Couté, Yohann, Conn, Simon, Kadlec, Jan, Sachidanandam, Ravi, Kaksonen, Marko, Cusack, Stephen, Ephrussi, Anne, Pillai, Ramesh S, Etude de la dynamique des protéomes (EDyP ), Laboratoire de Biologie à Grande Échelle (BGE - UMR S1038), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019])-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019])-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Centre National de la Recherche Scientifique (CNRS)-European Molecular Biology Laboratory [Grenoble] (EMBL)-Université Joseph Fourier - Grenoble 1 (UJF), Université Grenoble Alpes [2016-2019] (UGA [2016-2019])-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), and Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Centre National de la Recherche Scientifique (CNRS)

Subjects
Transposable element, Small RNA, endocrine system, RNA helicase, DEAD box, Piwi protein, DEAD box protein, [SDV]Life Sciences [q-bio], Piwi-interacting RNA, arginine, protein arginine methyltransferase, General Biochemistry, Genetics and Molecular Biology, Cell Line, DEAD-box RNA Helicases, 03 medical and health sciences, Adenosine Triphosphate, 0302 clinical medicine, Animals, Drosophila Proteins, RasiRNA, RNA, Small Interfering, ComputingMilieux_MISCELLANEOUS, 030304 developmental biology, Genetics, 0303 health sciences, biology, Biochemistry, Genetics and Molecular Biology(all), urogenital system, Ovary, Helicase, RNA, Bombyx, RNA Helicase A, Cell biology, [SDV] Life Sciences [q-bio], Mutation, DNA Transposable Elements, biology.protein, Piwi interacting RNA, Insect Proteins, Female, 030217 neurology & neurosurgery
Abstract

Germline-specific Piwi-interacting RNAs (piRNAs) protect animal genomes against transposons and are essential for fertility. piRNAs targeting active transposons are amplified by the ping-pong cycle, which couples Piwi endonucleolytic slicing of target RNAs to biogenesis of new piRNAs. Here, we describe the identification of a transient Amplifier complex that mediates biogenesis of secondary piRNAs in insect cells. Amplifier is nucleated by the DEAD box RNA helicase Vasa and contains the two Piwi proteins participating in the ping-pong loop, the Tudor protein Qin/Kumo and antisense piRNA guides. These components assemble on the surface of Vasa's helicase domain, which functions as an RNA clamp to anchor Amplifier onto transposon transcripts. We show that ATP-dependent RNP remodeling by Vasa facilitates transfer of 5′ sliced piRNA precursors between ping-pong partners, and loss of this activity causes sterility in Drosophila. Our results reveal the molecular basis for the small RNA amplification that confers adaptive immunity against transposons. Refereed/Peer-reviewed

Published
2014
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33. Dystrophin Cardiomyopathies: Clinical Management, Molecular Pathogenesis and Evolution towards Precision Medicine.

Author

D'Amario D, Gowran A, Canonico F, Castiglioni E, Rovina D, Santoro R, Spinelli P, Adorisio R, Amodeo A, Perrucci GL, Borovac JA, Pompilio G, and Crea F

Abstract

Duchenne's muscular dystrophy is an X-linked neuromuscular disease that manifests as muscle atrophy and cardiomyopathy in young boys. However, a considerable percentage of carrier females are often diagnosed with cardiomyopathy at an advanced stage. Existing therapy is not disease-specific and has limited effect, thus many patients and symptomatic carrier females prematurely die due to heart failure. Early detection is one of the major challenges that muscular dystrophy patients, carrier females, family members and, research and medical teams face in the complex course of dystrophic cardiomyopathy management. Despite the widespread adoption of advanced imaging modalities such as cardiac magnetic resonance, there is much scope for refining the diagnosis and treatment of dystrophic cardiomyopathy. This comprehensive review will focus on the pertinent clinical aspects of cardiac disease in muscular dystrophy while also providing a detailed consideration of the known and developing concepts in the pathophysiology of muscular dystrophy and forthcoming therapeutic options.

Published
2018
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34. Derivation of the Duchenne muscular dystrophy patient-derived induced pluripotent stem cell line lacking DMD exons 49 and 50 (CCMi001DMD-A-3, ∆49, ∆50).

Author

Spaltro G, Vigorelli V, Casalnuovo F, Spinelli P, Castiglioni E, Rovina D, Paganini S, Di Segni M, Nigro P, Gervasini C, Pompilio G, and Gowran A

Subjects
Adult, Cells, Cultured, Cellular Reprogramming genetics, Humans, Induced Pluripotent Stem Cells metabolism, Male, Exons genetics, Induced Pluripotent Stem Cells cytology, Muscular Dystrophy, Duchenne enzymology
Abstract

Duchenne muscular dystrophy (DMD) is caused by abnormalities in the dystrophin gene and is clinically characterised by childhood muscle degeneration and cardiomyopathy. We produced an induced pluripotent stem cell line from a DMD patient's dermal fibroblasts by electroporation with episomal vectors containing: hL-MYC, hLIN28, hSOX2, hKLF4, hOCT3/4. The resultant DMD iPSC line (CCMi001DMD-A-3) displayed iPSC morphology, expressed pluripotency markers, possessed trilineage differentiation potential and was karyotypically normal. MLPA analyses performed on DNA extracted from CCMi001DMD-A-3 showed a deletion of exons 49 and 50 (CCMi001DMD-A-3, ∆49, ∆50)., (Copyright © 2017 The Authors. Published by Elsevier B.V. All rights reserved.)

Published
2017
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