檢索結果 - Simona Orcesi

Refine Results
  1. 1
    Aicardi-Goutieres syndrome

    Aicardi-Goutieres syndrome 由 Simona Orcesi, Roberta La Piana, Elisa Fazzi

    出版 2008
    獲取全文 獲取全文
    Revisão
    加到收藏夾
    Saved in:
  2. 2
    Therapies in Aicardi–Goutières syndrome

    Therapies in Aicardi–Goutières syndrome 由 Yanick J. Crow, Adeline Vanderver, Simona Orcesi, Taco W. Kuijpers, Gillian Rice

    出版 2013
    獲取全文
    Revisão
    加到收藏夾
    Saved in:
  3. 3
    Aicardi-Goutières Syndrome: Neuroradiologic Findings and Follow-Up

    Aicardi-Goutières Syndrome: Neuroradiologic Findings and Follow-Up 由 C. Uggetti, Roberta La Piana, Simona Orcesi, Maria Grazia Egitto, Yanick J. Crow, Elisa Fazzi

    出版 2009
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  4. 4
    Reduction of hRNase H2 activity in Aicardi–Goutières syndrome cells leads to replication stress and genome instability

    Reduction of hRNase H2 activity in Aicardi–Goutières syndrome cells leads to replication stress and genome instability 由 Sara Pizzi, Sarah Sertic, Simona Orcesi, Cristina Cereda, Marika Bianchi, Andrew P. Jackson, Federico Lazzaro, Paolo Plevani, Marco Muzi-Falconi

    出版 2014
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  5. 5
    Recessive Mutations in POLR3B, Encoding the Second Largest Subunit of Pol III, Cause a Rare Hypomyelinating Leukodystrophy

    Recessive Mutations in POLR3B, Encoding the Second Largest Subunit of Pol III, Cause a Rare Hypomyelinating Leukodystrophy 由 Martine Tétreault, Karine Choquet, Simona Orcesi, Davide Tonduti, Umberto Balottin, Martin Teichmann, Sébastien Fribourg, Raphael Schiffmann, Bernard Brais, Adeline Vanderver, Geneviève Bernard

    出版 2011
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  6. 6
    Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome

    Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome 由 Roberta La Piana, C. Uggetti, Federico Roncarolo, Adeline Vanderver, Ivana Olivieri, Davide Tonduti, Guy Helman, Umberto Balottin, Elisa Fazzi, Yanick J. Crow, John Livingston, Simona Orcesi

    出版 2015
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  7. 7
    MCT8 Deficiency

    MCT8 Deficiency 由 Davide Tonduti, Adeline Vanderver, Angela Berardinelli, Johanna Schmidt, Christin Collins, Francesca Novara, Antonia Di Genni, Alda Mita, Fabio Triulzi, Janice Brunstrom-Hernandez, Orsetta Zuffardi, Umberto Balottin, Simona Orcesi

    出版 2012
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  8. 8
    Developmental Outcomes of Aicardi Goutières Syndrome

    Developmental Outcomes of Aicardi Goutières Syndrome 由 Laura Adang, Francesco Gavazzi, Micaela De Simone, Elisa Fazzi, Jessica Galli, Jamie Koh, Julia Kramer-Golinkoff, Valentina De Giorgis, Simona Orcesi, Kyle Peer, Nicole Ulrick, Sarah Woidill, Justine Shults, Adeline Vanderver

    出版 2019
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  9. 9
    Hidden pandemic: COVID-19-related stress, SLC6A4 methylation, and infants’ temperament at 3 months

    Hidden pandemic: COVID-19-related stress, SLC6A4 methylation, and infants’ temperament at 3 months 由 Livio Provenzi, Fabiana Mambretti, Marco Villa, Serena Grumi, Andrea Citterio, Emanuela Bertazzoli, Giacomo Biasucci, Lidia Decembrino, Rossana Falcone, Bárbara Gardella, Maria Roberta Longo, Renata Nacinovich, Camilla Pisoni, Federico Prefumo, Simona Orcesi, Barbara Scelsa, Roberto Giorda, Renato Borgatti

    出版 2021
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  10. 10
    Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform

    Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform 由 Erika Della Mina, Roberto Ciccone, Francesca Brustia, Baran Bayindir, Ivan Limongelli, Annalisa Vetro, Maria Iascone, Laura Pezzoli, Riccardo Bellazzi, Gianfranco Perotti, Valentina De Giorgis, Simona Lunghi, Giangennaro Coppola, Simona Orcesi, Pietro Merli, Salvatore Savasta, Pierangelo Veggiotti, Orsetta Zuffardi

    出版 2014
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  11. 11
    Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots

    Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots 由 Thaís Armangué, Joseph J. Orsini, Asako Takanohashi, Francesco Gavazzi, Alex Conant, Nicole Ulrick, Mark A. Morrissey, Norah Nahhas, Guy Helman, Heather Gordish‐Dressman, Simona Orcesi, Davide Tonduti, Chloe Stutterd, Keith Van Haren, Camilo Toro, Alejandro Iglesias, Marjo S. van der Knaap, Raphaela Goldbach Mansky, Anne B. Moser, Richard O. Jones, Adeline Vanderver

    出版 2017
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  12. 12
    Depression and Anxiety in Mothers Who Were Pregnant During the COVID-19 Outbreak in Northern Italy: The Role of Pandemic-Related Emotional Stress and Perceived Social Support

    Depression and Anxiety in Mothers Who Were Pregnant During the COVID-19 Outbreak in Northern Italy: The Role of Pandemic-Related Emotional Stress and Perceived Social Support 由 Serena Grumi, Livio Provenzi, Patrizia Accorsi, Giacomo Biasucci, Anna Cavallini, Lidia Decembrino, Rossana Falcone, Elisa Fazzi, Bárbara Gardella, Roberta Giacchero, Paola Guerini, Elena Grossi, Maria Luisa Magnani, Eloisa Mariani, Renata Nacinovich, Dario Pantaleo, Camilla Pisoni, Federico Prefumo, Caterina Sabatini, Barbara Scelsa, Maria Valentina Spartà, Arsenio Spinillo, Roberto Giorda, Simona Orcesi, Renato Borgatti

    出版 2021
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  13. 13
    Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease

    Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease 由 C. David, Mihaly Badonyi, Robin Kechiche, Antonella Insalaco, Marco Zecca, Fabrizio De Benedetti, Simona Orcesi, Luisa Chiapparini, Patrizia Comoli, Silvia Federici, Marco Gattorno, Monia Ginevrino, Elisa Giorgio, Valentina Matteo, Patricia Morán‐Álvarez, Davide Politano, Giusi Prencipe, Fabio Sirchia, Stefano Volpi, Cécile Masson, Gillian Rice, Marie‐Louise Frémond, Alice Lepelley, Joseph A. Marsh, Yanick J. Crow

    出版 2024
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  14. 14
    Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and <i>PTEN</i> mutations

    Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and <i>PTEN</i> mutations 由 Adeline Vanderver, Davide Tonduti, Ilana Kahn, Johanna Schmidt, Līvija Medne, Jodie M. Vento, Kimberly A. Chapman, Brendan C. Lanpher, Phillip L. Pearl, Andrea Gropman, Charles Marques Lourenço, J. Bamforth, Cynthia Sharpe, Mercédes Pineda, Jens Schallner, Olaf A. Bodamer, Simona Orcesi, Saskia A.J. Lesnik Oberstein, Erik A. Sistermans, Helger G. Yntema, C. Bönnemann, Amy Waldman, Marjo S. van der Knaap

    出版 2013
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  15. 15
    DNA damage contributes to neurotoxic inflammation in Aicardi-Goutières syndrome astrocytes

    DNA damage contributes to neurotoxic inflammation in Aicardi-Goutières syndrome astrocytes 由 Anna M. Giordano, Marco Luciani, Francesca Gatto, Monah Abou Alezz, Chiara Beghè, Lucrezia della Volpe, Alessandro Migliara, Sara Valsoni, Marco Genua, Monika Dzieciątkowska, Giacomo Frati, Julie Tahraoui‐Bories, Silvia Giliani, Simona Orcesi, Elisa Fazzi, Renato Ostuni, Angelo D’Alessandro, Raffaella Di Micco, Ivan Merelli, Angelo Lombardo, Martin A.M. Reijns, Natalia Gromak, Angela Gritti, Anna Kajaste‐Rudnitski

    出版 2022
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  16. 16
    Prenatal maternal stress during the COVID-19 pandemic and infant regulatory capacity at 3 months: A longitudinal study

    Prenatal maternal stress during the COVID-19 pandemic and infant regulatory capacity at 3 months: A longitudinal study 由 Livio Provenzi, Serena Grumi, Lilia Altieri, Giulia Bensi, Emanuela Bertazzoli, Giacomo Biasucci, Anna Cavallini, Lidia Decembrino, Rossana Falcone, Anna Freddi, Bárbara Gardella, Roberta Giacchero, Roberto Giorda, Elena Grossi, Paola Guerini, Maria Luisa Magnani, Paola Martelli, Mario Motta, Renata Nacinovich, Dario Pantaleo, Camilla Pisoni, Federico Prefumo, Laura Riva, Barbara Scelsa, Maria Valentina Spartà, Arsenio Spinillo, Patrizia Vergani, Simona Orcesi, Renato Borgatti

    出版 2021
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  17. 17
    The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE/PRAAS, SAVI and AGS

    The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology points to consider for diagnosis and management of autoinflammatory type I interferonop... 由 Kader Cetin Gedik, Lovro Lamot, Micol Romano, Erkan Demirkaya, David Piskin, Sofia Torreggiani, Laura Adang, Thaís Armangué, Kathe Barchus, Devon Cordova, Yanick J. Crow, Russell C. Dale, Karen Durrant, Despina Eleftheriou, Elisa Fazzi, Marco Gattorno, Francesco Gavazzi, Eric P. Hanson, Min Ae Lee‐Kirsch, Gina A. Montealegre Sanchez, Bénédicte Neven, Simona Orcesi, Seza Özen, M. Cecilia Poli, Elliot Schumacher, Davide Tonduti, Katsiaryna Uss, Daniel Aletaha, Brian M. Feldman, Adeline Vanderver, Paul Brogan, Raphaela Goldbach‐Mansky

    出版 2022
    獲取全文 獲取全文
    Revisão
    加到收藏夾
    Saved in:
  18. 18
    Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review

    Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review 由 Jessica Garau, Vanessa Cavallera, Marialuisa Valente, Davide Tonduti, Daisy Sproviero, Susanna Zucca, Domenica Battaglia, Roberta Battini, Enrico Bertini, Silvia Cappanera, Luisa Chiapparini, Camilla Crasà, Giovanni Crichiutti, Elvio Dalla Giustina, Stefano D’Arrigo, Valentina De Giorgis, Micaela De Simone, Jessica Galli, Roberta La Piana, Tullio Messana, Isabella Moroni, Nardo Nardocci, Celeste Panteghini, Cecilia Parazzini, Anna Pichiecchio, Antonella Pini, Federica Ricci, Veronica Saletti, E. Salvatici, Filippo M. Santorelli, Stefano Sartori, Francesca Tinelli, C. Uggetti, E. Veneselli, Giovanna Zorzi, Barbara Garavaglia, Elisa Fazzi, Simona Orcesi, Cristina Cereda

    出版 2019
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  19. 19
    Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

    Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response 由 Gillian Rice, Jacquelyn Bond, Aruna Asipu, Rebecca Brunette, Iain W. Manfield, Ian Carr, Jonathan C. Fuller, Richard M. Jackson, Teresa M. Lamb, Tracy A. Briggs, Manir Ali, Hannah Gornall, Lydia R Couthard, Alec Aeby, Simon Attard-Montalto, Enrico Bertini, Christine Bodemer, Knut Brockmann, Louise Brueton, Peter Corry, Isabelle Desguerre, Elisa Fazzi, Àngels García Cazorla, Blanca Gener, Ben C.J. Hamel, Arvid Heiberg, Matthew F. Hunter, Marjo S. van der Knaap, Ram Kumar, Lieven Lagae, P. Landrieu, Charles Marques Lourenço, Daphna Marom, Michael McDermott, William van der Merwe, Simona Orcesi, Julie Prendiville, Magnhild Rasmussen, Stavit A. Shalev, Doriette Soler, Marwan Shinawi, Ronen Spiegel, Tiong Yang Tan, Adeline Vanderver, Emma Wakeling, Evangeline Wassmer, Elizabeth Whittaker, Pierre Lebon, Daniel B. Stetson, David T. Bonthron, Yanick J. Crow

    出版 2009
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  20. 20
    Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease

    Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease 由 Gillian Rice, Naoki Kitabayashi, Magalie Barth, Tracy A. Briggs, Annabel Burton, Maria Luisa Carpanelli, Alfredo Cerisola, Cindy Colson, Russell C. Dale, Federica Rachele Danti, Niklas Darín, Begoña De Azua, Valentina De Giorgis, Christian De Goede, Isabelle Desguerre, Corinne De Laet, Atieh Eslahi, Michael Fahey, Penny Fallon, Alex J. Fay, Elisa Fazzi, Mark Gorman, Nirmala Gowrinathan, Marie Hully, Manju A. Kurian, Nicolas Leboucq, Jean‐Pierre Lin, Matthew A. Lines, Soe Mar, Reza Maroofian, Laura Martí‐Sánchez, Gary McCullagh, Majid Mojarrad, Vinodh Narayanan, Simona Orcesi, Juan Darío Ortigoza‐Escobar, Belén Pérez‐Dueñas, Florence Petit, Keri Ramsey, Magnhild Rasmussen, François Rivier, Pilar Rodríguez‐Pombo, Agathe Roubertie, Tommy Stödberg, Mehran Beiraghi Toosi, Annick Toutain, Florence Uettwiller, Nicole Ulrick, Adeline Vanderver, Amy Waldman, John H. Livingston, Yanick J. Crow

    出版 2017
    獲取全文
    Artigo
    加到收藏夾
    Saved in:

檢索工具: