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Autor:
Tuuli Kasso, Jens Stenger, Caterina Zaggia, Gianluca Pastorelli, Max Ramsøe, Tina Ravnsborg, Ole N. Jensen, Elsa Yvanez, Chiara Spinazzi-Lucchesi, Matthew J. Collins, Cecilie Brøns
Publikováno v:
Heritage Science, Vol 12, Iss 1, Pp 1-22 (2024)
Abstract Funerary masks played a crucial role in ancient Egyptian burial practices, as part of the rituals to ensure a successful afterlife. This study presents the first comprehensive analysis of a gilded mummy mask from the Roman period in Egypt fr
Externí odkaz:
https://doaj.org/article/9b1c92c99d86437b84095efc0b9409d7
Autor:
Enrico Radaelli, Charles-Antoine Assenmacher, Jillian Verrelle, Esha Banerjee, Florence Manero, Salim Khiati, Anais Girona, Guillermo Lopez-Lluch, Placido Navas, Marco Spinazzi
Publikováno v:
eLife, Vol 13 (2024)
Externí odkaz:
https://doaj.org/article/6f0393dc2860402fb63fbef2355f349c
Autor:
Spinazzi, Noemi Alice1 noemi.spinazz@ucsf.edu, Velasco, Alyssa Bianca2,3, Wodecki, Drew James4, Patel, Lina5
Publikováno v:
Journal of Autism & Developmental Disorders. Mar2024, Vol. 54 Issue 3, p1171-1180. 10p.
Autor:
Emmanuelle Salort-Campana, Guilhem Solé, Armelle Magot, Céline Tard, Jean-Baptiste Noury, Anthony Behin, Elisa De La Cruz, François Boyer, Claire Lefeuvre, Marion Masingue, Louise Debergé, Armelle Finet, Mélanie Brison, Marco Spinazzi, Antoine Pegat, Sabrina Sacconi, Edoardo Malfatti, Ariane Choumert, Rémi Bellance, Anne-Laure Bedat-Millet, Léonard Feasson, Carole Vuillerot, Agnès Jacquin-Piques, Maud Michaud, Yann Pereon, Tanya Stojkovic, Pascal Laforêt, Shahram Attarian, Pascal Cintas
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-13 (2024)
Abstract Background In 2017, a new treatment by nusinersen, an antisense oligonucleotide delivered by repeated intrathecal injections, became available for patients with spinal muscular atrophy (SMA), whereas clinical trials had mainly involved child
Externí odkaz:
https://doaj.org/article/b995c184e3d74c469752208af81f61fa
Autor:
Cardanho-Ramos, Carlos, Simões, Rúben Alves, Wang, Yi-Zhi, Faria-Pereira, Andreia, Bomba-Warczak, Ewa, Craessaerts, Katleen, Spinazzi, Marco, Savas, Jeffrey N., Morais, Vanessa A.
Publikováno v:
In iScience 19 April 2024 27(4)
Autor:
Natalie K. Boyd, Julia Nguyen, Mellad M. Khoshnood, Timothy Jiang, Lina Nguyen, Lorena Mendez, Noemi A. Spinazzi, Melanie A. Manning, Michael S. Rafii, Jonathan D. Santoro
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 15, Iss 1, Pp 1-10 (2023)
Abstract Background Plasma levels of vitamin D have been reported to be low in persons with Down syndrome (DS) and existing data is limited to small and homogenous cohorts. This is of particular importance in persons with DS given the high rates of a
Externí odkaz:
https://doaj.org/article/91a0dc18d8984955bc8d3db0868bb451
Autor:
Jonathan D. Santoro, Noemi A. Spinazzi, Robyn A. Filipink, Panteha Hayati-Rezvan, Ryan Kammeyer, Lina Patel, Elise A. Sannar, Luke Dwyer, Abhik K. Banerjee, Mellad Khoshnood, Saba Jafarpour, Natalie K. Boyd, Rebecca Partridge, Grace Y. Gombolay, Alison L. Christy, Diego Real de Asua, Maria del Carmen Ortega, Melanie A. Manning, Heather Van Mater, Gordan Worley, Cathy Franklin, Maria A. Stanley, Ruth Brown, George T. Capone, Eileen A. Quinn, Michael S. Rafii
Publikováno v:
Translational Psychiatry, Vol 13, Iss 1, Pp 1-11 (2023)
Abstract Down syndrome regression disorder (DSRD) is a clinical symptom cluster consisting of neuropsychiatric regression without an identifiable cause. This study evaluated the clinical effectiveness of IVIg and evaluated clinical characteristics as
Externí odkaz:
https://doaj.org/article/7e9281de584d4011887c454ae04c7609
Autor:
Carlos Cardanho-Ramos, Rúben Alves Simões, Yi-Zhi Wang, Andreia Faria-Pereira, Ewa Bomba-Warczak, Katleen Craessaerts, Marco Spinazzi, Jeffrey N. Savas, Vanessa A. Morais
Publikováno v:
iScience, Vol 27, Iss 4, Pp 109136- (2024)
Summary: In neurons, it is commonly assumed that mitochondrial replication only occurs in the cell body, after which the mitochondria must travel to the neuron’s periphery. However, while mitochondrial DNA replication has been observed to occur awa
Externí odkaz:
https://doaj.org/article/8d5d140180a74cc88ceb68b53d5521cb
Autor:
Damour, A., Delalande, P., Cordelières, F., Lafon, M.E., Faure, M., Segovia-Kueny, S., Stalens, C., Mathis, S., Spinazzi, M., Violleau, M.H., Wodrich, H., Solé, G.
Publikováno v:
In Revue Neurologique November 2023 179(9):983-992