Zobrazeno 1 - 10
of 1 060
pro vyhledávání: '"P, Lesca"'
Autor:
Christy W. LaFlamme, Cassandra Rastin, Soham Sengupta, Helen E. Pennington, Sophie J. Russ-Hall, Amy L. Schneider, Emily S. Bonkowski, Edith P. Almanza Fuerte, Talia J. Allan, Miranda Perez-Galey Zalusky, Joy Goffena, Sophia B. Gibson, Denis M. Nyaga, Nico Lieffering, Malavika Hebbar, Emily V. Walker, Daniel Darnell, Scott R. Olsen, Pandurang Kolekar, Mohamed Nadhir Djekidel, Wojciech Rosikiewicz, Haley McConkey, Jennifer Kerkhof, Michael A. Levy, Raissa Relator, Dorit Lev, Tally Lerman-Sagie, Kristen L. Park, Marielle Alders, Gerarda Cappuccio, Nicolas Chatron, Leigh Demain, David Genevieve, Gaetan Lesca, Tony Roscioli, Damien Sanlaville, Matthew L. Tedder, Sachin Gupta, Elizabeth A. Jones, Monika Weisz-Hubshman, Shamika Ketkar, Hongzheng Dai, Kim C. Worley, Jill A. Rosenfeld, Hsiao-Tuan Chao, Undiagnosed Diseases Network, Geoffrey Neale, Gemma L. Carvill, University of Washington Center for Rare Disease Research, Zhaoming Wang, Samuel F. Berkovic, Lynette G. Sadleir, Danny E. Miller, Ingrid E. Scheffer, Bekim Sadikovic, Heather C. Mefford
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-21 (2024)
Abstract Sequence-based genetic testing identifies causative variants in ~ 50% of individuals with developmental and epileptic encephalopathies (DEEs). Aberrant changes in DNA methylation are implicated in various neurodevelopmental disorders but rem
Externí odkaz:
https://doaj.org/article/56ab879163324f04934308a670c8a49d
Autor:
Simon Hirschberger, David Effinger, Polina Yoncheva, Annika Schmid, Mara-Noel Weis, Lesca-Miriam Holdt, Daniel Teupser, Simone Kreth
Publikováno v:
iScience, Vol 27, Iss 12, Pp 111291- (2024)
Summary: A ketogenic diet (KD) is increasingly debated as a countermeasure against nutrition-related modern diseases. While being immunologically beneficial, KD is still suspected of having severe metabolic side effects and negatively impacting gener
Externí odkaz:
https://doaj.org/article/712136c67019437eb82f66a39dc770c6
Autor:
Mariagrazia Talarico, Francesco Fortunato, Audrey Labalme, Louis Januel, Nicolas Chatron, Damien Sanlaville, Ilaria Sammarra, Monica Gagliardi, Radha Procopio, Paola Valentino, Grazia Annesi, Gaetan Lesca, Antonio Gambardella
Publikováno v:
Epilepsia Open, Vol 9, Iss 3, Pp 951-959 (2024)
Abstract Objectives Myotonia is a clinical sign typical of a group of skeletal muscle channelopathies, the non‐dystrophic myotonias. These disorders are electrophysiologically characterized by altered membrane excitability, due to specific genetic
Externí odkaz:
https://doaj.org/article/5869bb0106244745b99b7d725dff3c47
Autor:
Maria T. Papadopoulou, Lorenzo Muccioli, Francesca Bisulli, Kerstin Alexandra Klotz, Carmen Fons, Marina Trivisano, Teia Kabulashvili, Nicola Specchio, Gaetan Lesca, Alexis Arzimanoglou
Publikováno v:
Epilepsia Open, Vol 9, Iss 3, Pp 996-1006 (2024)
Abstract Objective The increasingly rapid pace of advancement in genetic testing may lead to inequalities in technical and human resources with a negative impact on optimal epilepsy clinical practice. In this view, the European Reference Network (ERN
Externí odkaz:
https://doaj.org/article/a4b6b2fc2f654ee089043121e6151671
Autor:
Fawaz, Hassan, Lesca, Julien, Quang, Pham Tran Anh, Leguay, Jérémie, Zeghlache, Djamal, Medagliani, Paolo
In this paper, we explore the use of multi-agent deep learning as well as learning to cooperate principles to meet stringent service level agreements, in terms of throughput and end-to-end delay, for a set of classified network flows. We consider age
Externí odkaz:
http://arxiv.org/abs/2205.12009
Autor:
Gianni Cutillo, Silvia Masnada, Gaetan Lesca, Dorothée Ville, Patrizia Accorsi, Lucio Giordano, Anna Pichiecchio, Marialuisa Valente, Paola Borrelli, Ottavia Eleonora Ferraro, Pierangelo Veggiotti
Publikováno v:
Epilepsia Open, Vol 9, Iss 1, Pp 106-121 (2024)
Abstract Objective Adenylosuccinate lyase (ADSL) deficiency is a rare inherited metabolic disorder with a wide phenotypic presentation, classically grouped into three types (neonatal, type I, and type II). We aim to better delineate the pathological
Externí odkaz:
https://doaj.org/article/824525d7bb3b493c91fbe235e276060d
Autor:
Nathan Buijsse, Floor E. Jansen, Charlotte W. Ockeloen, Marjan J. A. vanKempen, Shimriet Zeidler, Marjolein H. Willemsen, Emanuela Scarano, Sonia Monticone, Evelien Zonneveld‐Huijssoon, Karen J. Low, Allan Bayat, Sanjay M. Sisodiya, Debopam Samanta, Gaetan Lesca, Danielle deJong, Jaqcues C. Giltay, Nienke E. Verbeek, Tjitske Kleefstra, Eva H. Brilstra, Danique R. M. Vlaskamp
Publikováno v:
Epilepsia Open, Vol 8, Iss 4, Pp 1300-1313 (2023)
Abstract Objective The aim of this study was to describe the epilepsy phenotype in a large international cohort of patients with KBG syndrome and to study a possible genotype–phenotype correlation. Methods We collected data on patients with ANKRD11
Externí odkaz:
https://doaj.org/article/aed334dc863943859f018af92b96be34
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