Rezultati - Lorena Travaglini

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  1. 1
    Frataxin Deficiency Leads to Reduced Expression and Impaired Translocation of NF-E2-Related Factor (Nrf2) in Cultured Motor Neurons

    Frataxin Deficiency Leads to Reduced Expression and Impaired Translocation of NF-E2-Related Factor (Nrf2) in Cultured Motor Neurons od Valentina Doria, Stefania Petrini, Lorena Travaglini, Chiara Priori, Emanuela Piermarini, Sara Petrillo, B Carletti, Enrico Bertini, Fiorella Piemonte

    Izdano 2013
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  2. 2
    Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias

    Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias od Giacomo Garone, Alessandro Capuano, Lorena Travaglini, Federica Graziola, Fabrizia Stregapede, Ginevra Zanni, Federico Vigevano, Enrico Bertini, Francesco Nicita

    Izdano 2020
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  3. 3
    Oxidative stress in Duchenne muscular dystrophy: focus on the NRF2 redox pathway

    Oxidative stress in Duchenne muscular dystrophy: focus on the NRF2 redox pathway od Sara Petrillo, Laura Pelosi, Fiorella Piemonte, Lorena Travaglini, Laura Forcina, Michela Catteruccia, Stefania Petrini, Margherita Verardo, Adele D’Amico, Antonio Musarò, Enrico Bertini

    Izdano 2017
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  4. 4
    Epigenetic Silencing of the Myelopoiesis Regulator microRNA-223 by the AML1/ETO Oncoprotein

    Epigenetic Silencing of the Myelopoiesis Regulator microRNA-223 by the AML1/ETO Oncoprotein od Francesco Fazi, Serena Racanicchi, Giuseppe Zardo, Linda M. Starnes, Marco Mancini, Lorena Travaglini, Daniela Diverio, Emanuele Ammatuna, G. Cimino, Francesco Lo‐Coco, F Grignani, Clara Nervi

    Izdano 2007
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  5. 5
    Heterochromatic gene repression of the retinoic acid pathway in acute myeloid leukemia

    Heterochromatic gene repression of the retinoic acid pathway in acute myeloid leukemia od Francesco Fazi, Giuseppe Zardo, Vania Gelmetti, Lorena Travaglini, Alberto Ciolfi, Luciano Di Croce, Alessandro Rosa, Irene Bozzoni, F Grignani, Francesco Lo‐Coco, Pier Giuseppe Pelicci, Clara Nervi

    Izdano 2007
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  6. 6
    <i>RPGRIP1L</i> mutations are mainly associated with the cerebello‐renal phenotype of Joubert syndrome‐related disorders

    <i>RPGRIP1L</i> mutations are mainly associated with the cerebello‐renal phenotype of Joubert syndrome‐related disorders od Francesco Brancati, Lorena Travaglini, Dominika Zablocka, Eugen Boltshauser, Patrizia Accorsi, Giorgia Montagna, JL Silhavy, Giuseppe Barrano, Enrico Bertini, Francesco Emma, Luciana Rigoli, Bruno Dallapiccola, JG Gleeson, Enza Maria Valente

    Izdano 2008
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  7. 7
    MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy

    MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy od Diego Martinelli, Lorena Travaglini, Christian A. Drouin, Irène Ceballos-Picot, Teresa Rizza, Enrico Bertini, Rosalba Carrozzo, Stefania Petrini, Pascale de Lonlay, Maya El Hachem, Laurence Hubert, Alexandre Montpetit, Giuliano Torre, Carlo Dionisi‐Vici

    Izdano 2013
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  8. 8
    Polycombs and microRNA-223 regulate human granulopoiesis by transcriptional control of target gene expression

    Polycombs and microRNA-223 regulate human granulopoiesis by transcriptional control of target gene expression od Giuseppe Zardo, Alberto Ciolfi, Laura Vian, Linda M. Starnes, Monia Billi, Serena Racanicchi, Carmen Maresca, Francesco Fazi, Lorena Travaglini, Nélida I. Noguera, Marco Mancini, Mauro Nanni, G. Cimino, Francesco Lo‐Coco, F Grignani, Clara Nervi

    Izdano 2012
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  9. 9
    Sequential Valproic Acid/All-<i>trans</i> Retinoic Acid Treatment Reprograms Differentiation in Refractory and High-Risk Acute Myeloid Leukemia

    Sequential Valproic Acid/All-<i>trans</i> Retinoic Acid Treatment Reprograms Differentiation in Refractory and High-Risk Acute Myeloid Leukemia od G. Cimino, Francesco Lo‐Coco, Susanna Fenu, Lorena Travaglini, Erica Finolezzi, Marco Mancini, Mauro Nanni, Angela Careddu, Francesco Fazi, Fabrizio Padula, Roberto Fiorini, Maria Antonietta Aloe Spiriti, Maria Concetta Petti, Adriano Venditti, Sergio Amadori, Franco Mandelli, Pier Giuseppe Pelicci, Clara Nervi

    Izdano 2006
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  10. 10
    <i>MKS3/TMEM67</i>mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement

    <i>MKS3/TMEM67</i>mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement od Francesco Brancati, Miriam Iannicelli, Lorena Travaglini, Annalisa Mazzotta, Enrico Bertini, Eugen Boltshauser, Stefano D’Arrigo, Francesco Emma, Elisa Fazzi, Romina Gallizzi, Mattia Gentile, Damir Lončarević, Vlatka Mejaški‐Bošnjak, Chiara Pantaleoni, Luciana Rigoli, Carmelo Salpietro, Sabrina Signorini, Gilda Stringini, Alain Verloès, Dominika Zabloka, Bruno Dallapiccola, Joseph G. Gleeson, Enza Maria Valente

    Izdano 2008
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  11. 11
    Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

    Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies od Stephanie Bielas, Jennifer L. Silhavy, Francesco Brancati, Marina V. Kisseleva, Lihadh Al‐Gazali, László Sztriha, Riad Bayoumi, Maha S. Zaki, Alice Abdel Aleem, Rasim Özgür Rosti, Hülya Kayserili, Dominika Swistun, Lesley C. Scott, Enrico Bertini, Eugen Boltshauser, Elisa Fazzi, Lorena Travaglini, Seth J. Field, Stéphanie Gayral, Monique Jacoby, Stéphane Schurmans, Bruno Dallapiccola, Philip W. Majerus, Enza Maria Valente, Joseph G. Gleeson

    Izdano 2009
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  12. 12
    Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders

    Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders od Lorena Travaglini, Francesco Brancati, Jennifer L. Silhavy, Miriam Iannicelli, Elizabeth Nickerson, Nadia Elkhartoufi, Eric Scott, Emily Spencer, Stacey Gabriel, Sophie Thomas, Bruria Ben‐Zeev, Enrico Bertini, Eugen Boltshauser, Malika Chaouch, Maria Roberta Cilio, Mirjam M. de Jong, Hülya Kayserili, Gönül Oğur, Andrea Poretti, Sabrina Signorini, Graziella Uziel, Maha S. Zaki, Colin A. Johnson, Tania Attié‐Bitach, Joseph G. Gleeson, Enza Maria Valente

    Izdano 2013
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  13. 13
    Novel<i>TMEM67</i>mutations and genotype-phenotype correlates in meckelin-related ciliopathies

    Novel<i>TMEM67</i>mutations and genotype-phenotype correlates in meckelin-related ciliopathies od Miriam Iannicelli, Francesco Brancati, Soumaya Mougou-Zerelli, Annalisa Mazzotta, Sophie Thomas, Nadia Elkhartoufi, Lorena Travaglini, Céline Gomes, Gian Luigi Ardissino, Enrico Bertini, Eugen Boltshauser, Pierangela Castorina, Stefano D’Arrigo, Rita Fischetto, Brigitte Leroy, Philippe Loget, Maryse Bonnière, Lena Starck, Julia Tantau, Barbara Gentilin, Silvia Majore, Dominika Swistun, E. Flori, Faustina Lalatta, Chiara Pantaleoni, Johannes Penzien, Paola Grammatico, the International JSRD Study Group, Bruno Dallapiccola, Joseph G. Gleeson, Tania Attié‐Bitach, Enza Maria Valente

    Izdano 2010
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  14. 14
    CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome–Related Disorders

    CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome–Related Disorders od Francesco Brancati, Giuseppe Barrano, Jennifer L. Silhavy, Sarah Marsh, Lorena Travaglini, Stephanie Bielas, Maria Amorini, Dominika Zablocka, Hülya Kayserili, Lihadh Al‐Gazali, Enrico Bertini, Eugen Boltshauser, Marc D’Hooghe, Elisa Fazzi, Elif Yosunkaya Fenerci, Raoul C. M. Hennekam, Andrea Kiss, Melissa Lees, Elysa Marco, Shubha R. Phadke, Luciana Rigoli, Stéphane Romano, Carmelo Salpietro, Elliott H. Sherr, Sabrina Signorini, Petter Strømme, Bernard Stuart, László Sztriha, David Viskochil, Adnan Yüksel, Bruno Dallapiccola, Enza Maria Valente, Joseph G. Gleeson

    Izdano 2007
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  15. 15
    Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

    Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes od Enza Maria Valente, Clare V. Logan, Soumaya Mougou-Zerelli, Jeong Ho Lee, Jennifer L. Silhavy, Francesco Brancati, Miriam Iannicelli, Lorena Travaglini, Sveva Romani, Barbara Illi, Matthew Adams, Katarzyna Szymańska, Annalisa Mazzotta, Ji Eun Lee, Jerlyn C. Tolentino, Dominika Swistun, Carmelo Salpietro, Carmelo Fede, Stacey Gabriel, Carsten Russ, Kristian Cibulskis, Carrie Sougnez, Friedhelm Hildebrandt, Edgar A. Otto, Susanne Held, Bill H. Diplas, Erica E. Davis, Mario Mikula, Charles M. Strom, Bruria Ben‐Zeev, Dorit Lev, T. Sagie, Marina Michelson, Yuval Yaron, Amanda Krause, Eugen Boltshauser, Nadia Elkhartoufi, J. Roume, Stavit A. Shalev, Arnold Münnich, Sophie Saunier, Chris F. Inglehearn, Ali Saâd, Adila Al‐Kindy, Sophie Thomas, Michel Vekemans, Bruno Dallapiccola, Nicholas Katsanis, Colin A. Johnson, Tania Attié‐Bitach, Joseph G. Gleeson

    Izdano 2010
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  16. 16
    The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study

    The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study od Marcella Neri, Rachele Rossi, Cecilia Trabanelli, Antonio Di Mauro, Rita Selvatici, Maria Sofia Falzarano, N. Spedicato, Alice Margutti, Paola Rimessi, F. Fortunato, M. Fabris, Francesca Gualandi, Giacomo P. Comi, Silvana Tedeschi, Manuela Seia, Chiara Fiorillo, Monica Traverso, Claudio Bruno, Emiliano Giardina, Maria Rosaria Piemontese, Giuseppe Merla, Milena Cau, Monica Marica, Carmela Scuderi, Eugenia Borgione, Alessandra Tessa, Guja Astrea, Filippo M. Santorelli, Luciano Merlini, Marina Mora, Pia Bernasconi, Sara Gibertini, Valeria Sansone, Tiziana Mongini, Angela Berardinelli, Antonella Pini, Rocco Liguori, Massimiliano Filosto, Sonia Messina, Gian Luca Vita, António Toscano, Giuseppe Vita, Marika Pane, Serenella Servidei, Elena Pegoraro, Luca Bello, Lorena Travaglini, Enrico Bertini, Adele D’Amico, Manuela Ergoli, Luisa Politano, Annalaura Torella, Vincenzo Nigro, Eugenio Mercuri, Alessandra Ferlini

    Izdano 2020
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  17. 17
    Biallelic Variants in the Ectonucleotidase <scp><i>ENTPD1</i></scp> Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia

    Biallelic Variants in the Ectonucleotidase <scp><i>ENTPD1</i></scp> Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, a... od Daniel G. Calame, Isabella Herman, Reza Maroofian, Aren E. Marshall, Karina Carvalho Donis, Jawid M. Fatih, Tadahiro Mitani, Haowei Du, Christopher M. Grochowski, Sérgio B. Sousa, Charul Gijavanekar, Somayeh Bakhtiari, Yoko Itō, Clarissa Rocca, Jill V. Hunter, V. Reid Sutton, Lisa Emrick, Kym M. Boycott, Alexander Lossos, Yakov Fellig, Eugenia Prus, Yosef Kalish, Vardiella Meiner, Manon Suerink, Claudia Ruivenkamp, Kayla Muirhead, Nebal Waill Saadi, Maha S. Zaki, Arjan Bouman, Tahsin Stefan Barakat, David Skidmore, Matthew Osmond, Thiago Oliveira Silva, David Murphy, Ehsan Ghayoor Karimiani, Yalda Jamshidi, Asaad Ghanim Jaddoa, Homa Tajsharghi, Sheng Chih Jin, Mohammad Reza Abbaszadegan, Reza Ebrahimzadeh‐Vesal, Susan Hosseini, Shahryar Alavi, Amir Bahreini, Elahe Zarean, Mohammad Mehdi Salehi, Nouriya Al‐Sannaa, Giovanni Zifarelli, Peter Bauer, Simon C. Robson, Zeynep Coban‐Akdemir, Lorena Travaglini, Francesco Nicita, Shalini N. Jhangiani, Richard A. Gibbs, Jennifer E. Posey, Michael C. Kruer, Kristin D. Kernohan, Jonas Alex Morales Saute, Henry Houlden, Adeline Vanderver, Sarah H. Elsea, Davut Pehli̇van, Dana Marafi, James R. Lupski

    Izdano 2022
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