Zobrazeno 1 - 10
of 264
pro vyhledávání: '"Mariasavina, Severino"'
Autor:
Carolina Saffioti, Marta Nebiolo, Roberta Caorsi, Alessio Mesini, Mariasavina Severino, Giacomo Brisca, Elio Castagnola, Marco Gattorno
Publikováno v:
Infectious Disease Reports, Vol 16, Iss 2, Pp 269-280 (2024)
We describe an atypical case of Whipple disease exclusively involving the spinal cord in an adolescent receiving immunosuppressive therapy for systemic lupus erythematosus. The diagnosis was particularly difficult since lupus and Whipple disease can
Externí odkaz:
https://doaj.org/article/c0e6f99e4c5e47288a8d6dae7aaa0e63
Autor:
Andrea Accogli, Saurabh Shakya, Taewoo Yang, Christine Insinna, Soo Yeon Kim, David Bell, Kirill R. Butov, Mariasavina Severino, Marcello Niceta, Marcello Scala, Hyun Sik Lee, Taekyeong Yoo, Jimmy Stauffer, Huijie Zhao, Chiara Fiorillo, Marina Pedemonte, Maria C. Diana, Simona Baldassari, Viktoria Zakharova, Anna Shcherbina, Yulia Rodina, Christina Fagerberg, Laura Sønderberg Roos, Jolanta Wierzba, Artur Dobosz, Amanda Gerard, Lorraine Potocki, Jill A. Rosenfeld, Seema R. Lalani, Tiana M. Scott, Daryl Scott, Mahshid S. Azamian, Raymond Louie, Hannah W. Moore, Neena L. Champaigne, Grace Hollingsworth, Annalaura Torella, Vincenzo Nigro, Rafal Ploski, Vincenzo Salpietro, Federico Zara, Simone Pizzi, Giovanni Chillemi, Marzia Ognibene, Erin Cooney, Jenny Do, Anders Linnemann, Martin J. Larsen, Suzanne Specht, Kylie J. Walters, Hee-Jung Choi, Murim Choi, Marco Tartaglia, Phillippe Youkharibache, Jong-Hee Chae, Valeria Capra, Sung-Gyoo Park, Christopher J. Westlake
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-20 (2024)
Abstract WDR44 prevents ciliogenesis initiation by regulating RAB11-dependent vesicle trafficking. Here, we describe male patients with missense and nonsense variants within the WD40 repeats (WDR) of WDR44, an X-linked gene product, who display cilio
Externí odkaz:
https://doaj.org/article/af57c8de8d9140e89c63f41fb89329f6
Autor:
Alice Dainelli, Michele Iacomino, Sara Rossato, Samuela Bugin, Monica Traverso, Mariasavina Severino, Stefano Gustincich, Valeria Capra, Marco Di Duca, Federico Zara, Marcello Scala, Pasquale Striano
Publikováno v:
Epilepsia Open, Vol 8, Iss 4, Pp 1314-1330 (2023)
Abstract Objective NPRL3‐related epilepsy (NRE) is an emerging condition set within the wide GATOR‐1 spectrum with a particularly heterogeneous and elusive phenotypic expression. Here, we delineated the genotype–phenotype spectrum of NRE, repor
Externí odkaz:
https://doaj.org/article/eb8d50b2e41347548f8a1f08cb9fc520
Autor:
Ferruccio Romano, Elisabetta Amadori, Francesca Madia, Mariasavina Severino, Valeria Capra, Renata Rizzo, Rita Barone, Beatrice Corradi, Luca Maragliano, Mohammad Sadegh Shams Nosrati, Antonio Falace, Pasquale Striano, Federico Zara, Marcello Scala
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
Rotatin, encoded by the RTTN gene, is a centrosomal protein with multiple, emerging functions, including left-right specification, ciliogenesis, and neuronal migration. Recessive variants in RTTN are associated with a neurodevelopmental disorder with
Externí odkaz:
https://doaj.org/article/f31b7188a4fb46e98c9c34516b293263
Autor:
Chiara Panicucci, Maria Cristina Schiaffino, Claudia Nesti, Maria Derchi, Gianluca Trocchio, Mariasavina Severino, Nicola Stagnaro, Enrico Priolo, Federico Zara, Filippo M. Santorelli, Claudio Bruno
Publikováno v:
Italian Journal of Pediatrics, Vol 48, Iss 1, Pp 1-6 (2022)
Abstract Background Sengers syndrome is characterized by congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy, and lactic acidosis associated with mutations in AGK gene. Clinical course ranges from a severe fatal neonatal form, to
Externí odkaz:
https://doaj.org/article/0d3f19fa84244821be31d2f1fda0bffe
Autor:
Silvia Buratti, Marisa Mallamaci, Giulia Tuo, Mariasavina Severino, Domenico Tortora, Costanza Parodi, Andrea Rossi, Francesco Pasetti, Lucio Castellan, Valeria Capra, Ferruccio Romano, Patrizia De Marco, Marco Pavanello, Gianluca Piatelli, Dario Paladini, Maria Grazia Calevo, Andrea Moscatelli
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
BackgroundVein of Galen aneurysmal malformation (VGAM) is a rare cerebral vascular malformation associated with significant morbidity and mortality. Newborns with VGAM without adequate treatment may develop rapidly deteriorating high output heart fai
Externí odkaz:
https://doaj.org/article/1d268747ab414e9ab5cd2e11d12024f4
Autor:
Rúben Maia, André Miranda, Ana Filipa Geraldo, Luísa Sampaio, Antonia Ramaglia, Domenico Tortora, Mariasavina Severino, Andrea Rossi
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
Sellar/suprasellar tumors comprise about 10% of all pediatric Central Nervous System (CNS) tumors and include a wide variety of entities, with different cellular origins and distinctive histological and radiological findings, demanding customized neu
Externí odkaz:
https://doaj.org/article/d898660330144a85a4b33aae8e9cb403
Autor:
Sara Larivière, Jessica Royer, Raúl Rodríguez-Cruces, Casey Paquola, Maria Eugenia Caligiuri, Antonio Gambardella, Luis Concha, Simon S. Keller, Fernando Cendes, Clarissa L. Yasuda, Leonardo Bonilha, Ezequiel Gleichgerrcht, Niels K. Focke, Martin Domin, Felix von Podewills, Soenke Langner, Christian Rummel, Roland Wiest, Pascal Martin, Raviteja Kotikalapudi, Terence J. O’Brien, Benjamin Sinclair, Lucy Vivash, Patricia M. Desmond, Elaine Lui, Anna Elisabetta Vaudano, Stefano Meletti, Manuela Tondelli, Saud Alhusaini, Colin P. Doherty, Gianpiero L. Cavalleri, Norman Delanty, Reetta Kälviäinen, Graeme D. Jackson, Magdalena Kowalczyk, Mario Mascalchi, Mira Semmelroch, Rhys H. Thomas, Hamid Soltanian-Zadeh, Esmaeil Davoodi-Bojd, Junsong Zhang, Gavin P. Winston, Aoife Griffin, Aditi Singh, Vijay K. Tiwari, Barbara A. K. Kreilkamp, Matteo Lenge, Renzo Guerrini, Khalid Hamandi, Sonya Foley, Theodor Rüber, Bernd Weber, Chantal Depondt, Julie Absil, Sarah J. A. Carr, Eugenio Abela, Mark P. Richardson, Orrin Devinsky, Mariasavina Severino, Pasquale Striano, Domenico Tortora, Erik Kaestner, Sean N. Hatton, Sjoerd B. Vos, Lorenzo Caciagli, John S. Duncan, Christopher D. Whelan, Paul M. Thompson, Sanjay M. Sisodiya, Andrea Bernasconi, Angelo Labate, Carrie R. McDonald, Neda Bernasconi, Boris C. Bernhardt
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-16 (2022)
Epilepsy is a brain network disorder with associated genetic risk factors. Here, the authors show that spatial patterns of transcriptomic vulnerability co-vary with structural brain network alterations in focal and generalized epilepsy.
Externí odkaz:
https://doaj.org/article/42a2adc39a114a5faf720bcffa41fabd
Autor:
Cristina Chelleri, Marcello Scala, Patrizia De Marco, Monica Traverso, Marzia Ognibene, Irene Bruno, Gianluca Piccolo, Pasquale Striano, Mariasavina Severino, Federico Zara, Maria Cristina Diana, Marco Pavanello
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
Neurofibromatosis type 1 (NF1) is a neurocutaneous syndrome caused by pathogenic variants in the NF1 gene, encoding a multidomain inhibitor of Ras activity. Thus, NF1 is considered a RASopathy and drugs targeting the RAS/mitogen-activated protein kin
Externí odkaz:
https://doaj.org/article/342fde3708c94e9eac4a962b6da70973
Autor:
Andrea Accogli, Stacy Goergen, Giana Izzo, Kshitij Mankad, Karina Krajden Haratz, Cecilia Parazzini, Michael Fahey, Lara Menzies, Julia Baptista, Lucia Carpineta, Domenico Tortora, Ezio Fulcheri, Valerio Gaetano Vellone, Dario Paladini, Luigina Spaccini, Valentina Toto, Claire Trayers, Liat Ben Sira, Adi Reches, Gustavo Malinger, Vincenzo Salpietro, Patrizia De Marco, Myriam Srour, Federico Zara, Valeria Capra, Andrea Rossi, Mariasavina Severino
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 8, Iss 10, Pp 2004-2012 (2021)
Abstract Data on fetal MRI in L1 syndrome are scarce with relevant implications for parental counseling and surgical planning. We identified two fetal MR imaging patterns in 10 fetuses harboring L1CAM mutations: the first, observed in 9 fetuses was c
Externí odkaz:
https://doaj.org/article/d39d340140d54e11af25c53ccc7c57e0