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Akademický článek

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy

Autor: Emily Banks, Vincent Francis, Sheng-Jia Lin, Fares Kharfallah, Vladimir Fonov, Maxime Lévesque, Chanshuai Han, Gopinath Kulasekaran, Marius Tuznik, Armin Bayati, Reem Al-Khater, Fowzan S. Alkuraya, Loukas Argyriou, Meisam Babaei, Melanie Bahlo, Behnoosh Bakhshoodeh, Eileen Barr, Lauren Bartik, Mahmoud Bassiony, Miriam Bertrand, Dominique Braun, Rebecca Buchert, Mauro Budetta, Maxime Cadieux-Dion, Daniel G. Calame, Heidi Cope, Donna Cushing, Stephanie Efthymiou, Marwa Abd Elmaksoud, Huda G. El Said, Tawfiq Froukh, Harinder K. Gill, Joseph G. Gleeson, Laura Gogoll, Elaine S.-Y. Goh, Vykuntaraju K. Gowda, Tobias B. Haack, Mais O. Hashem, Stefan Hauser, Trevor L. Hoffman, Jacob S. Hogue, Akimoto Hosokawa, Henry Houlden, Kevin Huang, Stephanie Huynh, Ehsan G. Karimiani, Silke Kaulfuß, G. Christoph Korenke, Amy Kritzer, Hane Lee, James R. Lupski, Elysa J. Marco, Kirsty McWalter, Arakel Minassian, Berge A. Minassian, David Murphy, Juanita Neira-Fresneda, Hope Northrup, Denis M. Nyaga, Barbara Oehl-Jaschkowitz, Matthew Osmond, Richard Person, Davut Pehlivan, Cassidy Petree, Lynette G. Sadleir, Carol Saunders, Ludger Schoels, Vandana Shashi, Rebecca C. Spillmann, Varunvenkat M. Srinivasan, Paria N. Torbati, Tulay Tos, Undiagnosed Diseases Network, Maha S. Zaki, Dihong Zhou, Christiane Zweier, Jean-François Trempe, Thomas M. Durcan, Ziv Gan-Or, Massimo Avoli, Cesar Alves, Gaurav K. Varshney, Reza Maroofian, David A. Rudko, Peter S. McPherson

Publikováno v: Nature Communications, Vol 15, Iss 1, Pp 1-22 (2024)

Abstract Developmental and epileptic encephalopathies (DEEs) feature altered brain development, developmental delay and seizures, with seizures exacerbating developmental delay. Here we identify a cohort with biallelic variants in DENND5A, encoding a

Externí odkaz: https://doaj.org/article/67b9cc39749f4c32a8e5662c1d902770

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Akademický článek

Comparison between qualitative rockfall risk rating systems for a road affected by high traffic intensity

Autor: P. Budetta, M. Nappi

Publikováno v: Natural Hazards and Earth System Sciences, Vol 13, Iss 6, Pp 1643-1653 (2013)

The paper deals with the assessment of the rockfall risk for a road stretch, in southern Italy, affected by high traffic intensity. Three qualitative rockfall risk rating systems (QRSs) which use an exponential scoring with a base of 3 were employed,

Externí odkaz: https://doaj.org/article/d65b2f7c7cc5465b83f54b2ab1bbfaba

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Akademický článek

Rockfall-induced impact force causing a debris flow on a volcanoclastic soil slope: a case study in southern Italy

Autor: P. Budetta

Publikováno v: Natural Hazards and Earth System Sciences, Vol 10, Iss 9, Pp 1995-2006 (2010)

On 10 January 2003, a rockfall of approximately 10 m3 affected a cliff some 25 m high located along the northern slopes of Mt. St. Angelo (Nocera Inferiore, province of Salerno) in the southern Italian region of Campania. The impact of boulders on th

Externí odkaz: https://doaj.org/article/edcffb12d1214c0f9cd2d69f16a14a29

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Akademický článek

Assessment of rockfall risk along roads

Autor: P. Budetta

Publikováno v: Natural Hazards and Earth System Sciences, Vol 4, Iss 1, Pp 71-81 (2004)

This paper contains a method for the analysis of rockfall risk along roads and motorways. The method is derived from the Rockfall Hazard Rating System (RHRS) developed by Pierson et al. (1990) at the Oregon State Highway Division. The RHRS provides a

Externí odkaz: https://doaj.org/article/62971552e63341e2b9e9af49d70ca46a

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