Zobrazeno 1 - 10
of 47
pro vyhledávání: '"Rosa Santacroce"'
Autor:
Elvira Grandone, Pasquale Martinelli, Michela Villani, Gennaro Vecchione, Lucia Fischetti, Angelica Leccese, Rosa Santacroce, Gaetano Corso, Maurizio Margaglione
Publikováno v:
BMC Pregnancy and Childbirth, Vol 19, Iss 1, Pp 1-4 (2019)
Abstract Background Cobalamin metabolism disorders are rare, inherited diseases which cause megaloblastic anaemia and other clinical manifestations. Early diagnosis of these conditions is essential, in order to allow appropriate treatment as early as
Externí odkaz:
https://doaj.org/article/2f70e9aad4a04219918067b21e1b4cd2
Autor:
Barbara Lunghi, Anna Lecchi, Rosa Santacroce, Mariangela Scavone, Rita Paniccia, Andrea Artoni, Christian Gachet, Giancarlo Castaman, Maurizio Margaglione, Francesco Bernardi, Marco Cattaneo
Publikováno v:
Haematologica, Vol 105, Iss 7 (2020)
Externí odkaz:
https://doaj.org/article/e54f4b52fd9c461fa6ddc88aa031d6e3
Autor:
Gianluca Sottilotta, Francesca Luise, Vincenzo Oriana, Angela Piromalli, Rosa Santacroce, Alessandra Di Lelio
Publikováno v:
Hematology Reports, Vol 11, Iss 1 (2019)
Despite many articles regarding the antihemorrhagic treatment and prophylaxis, there is a lack of experience about how to best conduct major surgical procedures in patients with congenital factor XIII (FXIII) deficiency. Here we report a case of surg
Externí odkaz:
https://doaj.org/article/c3214c7de4084157868b569a124706b7
Autor:
Margaglione, Maria d’Apolito, Caterina Ceccarini, Rosa Savino, Iolanda Adipietro, Ighli di Bari, Rosa Santacroce, Maria Curcetti, Giovanna D’Andrea, Anna-Irma Croce, Carla Cesarano, Anna Nunzia Polito, Maurizio
Publikováno v:
Genes; Volume 14; Issue 7; Pages: 1380
Background: Essential tremor (ET) is one of the more common movement disorders. Current diagnosis is solely based on clinical findings. ET appears to be inherited in an autosomal dominant pattern. Several loci on specific chromosomes have been studie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=multidiscipl::c5376d1ffc8782de669abf54d9f6447c
Autor:
Redoy Ranjan, Gie Ken-Dror, Ida Martinelli, Elvira Grandone, Sini Hiltunen, Erik Lindgren, Maurizio Margaglione, Veronique Le Cam Duchez, Aude Bagan Triquenot, Marialuisa Zedde, Michelangelo Mancuso, Ynte M Ruigrok, Brad Worrall, Jennifer J Majersik, Jukka Putaala, Elena Haapaniemi, Susanna M Zuurbier, Matthijs C Brouwer, Serena M Passamonti, Maria Abbattista, Paolo Bucciarelli, Robin Lemmens, Emanuela Pappalardo, Paolo Costa, Marina Colombi, Diana Aguiar de Sousa, Sofia Rodrigues, Patrícia Canhao, Aleksander Tkach, Rosa Santacroce, Giovanni Favuzzi, Antonio Arauz, Donatella Colaizzo, Kostas Spengos, Amanda Hodge, Reina Ditta, Thang S Han, Alessandro Pezzini, Jonathan M Coutinho, Vincent Thijs, Katarina Jood, Turgut Tatlisumak, José M Ferro, Pankaj Sharma
Publikováno v:
European Stroke Journal. SAGE Publications Inc.
Eur Stroke J
Eur Stroke J
Background: Cerebral venous thrombosis (CVT) is an uncommon cause of stroke in young adults. We aimed to determine the impact of age, gender and risk factors (including sex-specific) on CVT onset. Methods: We used data from the BEAST (Biorepository t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2dd71fb5155fd8de33df4be3f1baaef9
http://www.scopus.com/inward/record.url?scp=85146097582&partnerID=8YFLogxK
http://www.scopus.com/inward/record.url?scp=85146097582&partnerID=8YFLogxK
Autor:
Ilaria Ragnatela, Francesco Santoro, Enrica Vitale, Rosa Cetera, Rosa Santacroce, Maurizio Margaglione, Natale Daniele Brunetti
Publikováno v:
European Heart Journal Supplements. 24
Introduction Desmoplakin is a human protein which plays a key role into desmosomes structure. Desmoplakin gene mutations can cause the so-called "desmoplakin cardiomyopathy", a form of arrhythmogenic cardiomyopathy. Its clinical history is characteri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ec16407ba044a4d03ed21278f5e9ff05
https://doi.org/10.1093/eurheartjsupp/suac121.418
https://doi.org/10.1093/eurheartjsupp/suac121.418
Autor:
Maria d’Apolito, Francesco Santoro, Rosa Santacroce, Giorgia Cordisco, Ilaria Ragnatela, Girolamo D’Arienzo, Pier Luigi Pellegrino, Natale Daniele Brunetti, Maurizio Margaglione
Publikováno v:
Genes
Volume 14
Issue 2
Pages: 427
Volume 14
Issue 2
Pages: 427
Background: Brugada syndrome (BrS) is an inherited primary channelopathy syndrome associated to sudden cardiac death. Overall, variants have been identified in eighteen genes encoding for ion channel subunits and seven genes for regulatory proteins.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23a27bc63a1a18f02030662b88394084
https://doi.org/10.3390/genes14020427
https://doi.org/10.3390/genes14020427
Autor:
Serena M. Passamonti, Aleksander Tkach, José M. Ferro, Susanna M. Zuurbier, Stéphanie Debette, Pankaj Sharma, Christina Jern, Ida Martinelli, Elena Haapaniemi, Patrícia Canhão, Braxton D. Mitchell, Giovanni Favuzzi, Guillaume Paré, Alessandro Pezzini, Antonio Arauz, Erik Lindgren, Donatella Colaizzo, Aude Bagan Triquenot, Véronique Le Cam Duchez, K. Spengos, Marina Colombi, Jonathan M. Coutinho, Rosa Santacroce, Paolo Bucciarelli, B. B. Worrall, Ioana Cotlarciuc, Jukka Putaala, Paolo Costa, Reina Ditta, Maurizio Margaglione, Emanuela Pappalardo, Tiina M. Metso, Jennifer J. Majersik, Steven J. Kittner, Turgut Tatlisumak, Sini Hiltunen, Michelangelo Mancuso, Elvira Grandone, Amanda Hodge, Robin Lemmens, Katarina Jood, Marialuisa Zedde, Matthijs C. Brouwer, Sofia Leal Rodrigues, Gie Ken-Dror, Thomas Marjot, Ynte M. Ruigrok, Maria Abbattista, Diana Aguiar de Sousa, Vincent Thijs
Publikováno v:
Annals of Neurology
Annals of Neurology, Wiley, 2021, ⟨10.1002/ana.26205⟩
Ann Neurol
Annals of neurology, 90(5), 777-788. John Wiley and Sons Inc.
Annals of Neurology, Wiley, 2021, ⟨10.1002/ana.26205⟩
Ann Neurol
Annals of neurology, 90(5), 777-788. John Wiley and Sons Inc.
Objective Cerebral venous thrombosis (CVT) is an uncommon form of stroke affecting mostly young individuals. Although genetic factors are thought to play a role in this cerebrovascular condition, its genetic etiology is not well understood. Methods A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e48a366d0ee2c2bf1d91d2731b195c57
https://hal.archives-ouvertes.fr/hal-03363623
https://hal.archives-ouvertes.fr/hal-03363623
Autor:
Giovanna D'Andrea, Rosa Santacroce, Maria D'Apolito, Maurizio Margaglione, Angela Bruna Maffione
Publikováno v:
Journal of Clinical Medicine, Vol 10, Iss 2023, p 2023 (2021)
Journal of Clinical Medicine
Journal of Clinical Medicine
Hereditary angioedema is a rare inherited disorder characterized by recurrent episodes of the accumulation of fluids outside of the blood vessels, causing rapid swelling of tissues in the hands, feet, limbs, face, intestinal tract, or airway. Mutatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4cba3878a897a77eea7db9a3fc8da8dd
https://www.mdpi.com/2077-0383/10/9/2023
https://www.mdpi.com/2077-0383/10/9/2023
Autor:
Rita Paniccia, Barbara Lunghi, Rosa Santacroce, Giancarlo Castaman, Francesco Bernardi, Maurizio Margaglione, Marco Cattaneo, Christian Gachet, Mariangela Scavone, Anna Lecchi, Andrea Artoni
Publikováno v:
Haematologica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3dd6afa34f4697595f49537b344ccf74
https://europepmc.org/articles/PMC7327643/
https://europepmc.org/articles/PMC7327643/