Results 71 to 80 of about 6,058 (200)

Clinical and genetic landscape of epilepsies with absence seizures and single‐gene etiology

Epilepsia, EarlyView.
Abstract Objective To characterize the clinical, electroencephalographic, and genetic features of epilepsies featuring absence seizures within monogenic etiology, highlighting the diagnostic, treatment and prognostic implications. Methods We conducted a retrospective, multicenter study including patients with monogenic epilepsies and ...
Simona Balestrini, Ilaria Galli, Maria Luisa Ricci, Elena Parrini, Davide Mei, Mario Mastrangelo, Francesco Pisani, Corinna Filippi, Lucio Giordano, Elisabetta Cesaroni, Carla Marini, Emanuele Cerulli Irelli, Carlo di Bonaventura, Marica Rubino, Antonietta Coppola, Jacopo Proietti, Tommaso Lo Barco, Francesca Darra, Laura Licchetta, Francesca Bisulli, Marco Perulli, Domenica Battaglia, Angela De Dominicis, Marina Trivisano, Nicola Specchio, Roberta Solazzi, Davide Caputo, Laura Canafoglia, LICE Collaborative group, Carmen Barba, Emanuele Bartolini, Pia Bernardo, Maria Paola Canevini, Gaetano Cantalupo, Susanna Casellato, Mara Cavallin, Ilaria Contaldo, Alessandro Ferretti, Maria Luigia Gambardella, Tiziana Granata, Giuliana Lentini, Anna Luchetti, Federico Melani, Pasquale Parisi, Simona Pellacani, Laura Pietrangelo, Tiziana Pisano, Ilaria Onida, Emilia Ricci, Aglaia Vignoli, Renzo Guerrini   +50 more
wiley   +1 more source

Primed to Burst: Corepressors Coordinate Transcriptional Activation and Efficient Switching Between Cell States

BioEssays, Volume 48, Issue 1, January 2026.
We hypothesize that the TPL corepressor (and likely others) acts as a transcriptional linchpin, stabilizing a state similar yet distinct from the metazoan paused state by recruiting Mediator and other components needed to initiate and coordinate transcriptional bursts across multiple genes.
Alexander R. Leydon, Jennifer L. Nemhauser   +1 more
wiley   +1 more source

Chern-Simons Matter Theories and Higher Spin Gravity

, 2017
We compute the parity violating three point amplitudes with one scalar leg in higher spin gravity and compare results with those of Chern-Simons matter theories. The three-point correlators of the free boson, free fermion, critical vector model and Gross-
Sezgin, Ergin, Skvortsov, Evgeny D., Zhu, Yaodong   +2 more
core   +1 more source

Magnetic field reversals in an experimental turbulent dynamo [PDF]

, 2007
We report the first experimental observation of reversals of a dynamo field generated in a laboratory experiment based on a turbulent flow of liquid sodium. The magnetic field randomly switches between two symmetric solutions B and -B.
Berhanu, M., Bourgoin, M., Chiffaudel, A., Daviaud, F., Dubrulle, B., Fauve, S., Marie, L., Monchaux, R., Mordant, N., Odier, Ph., Petrelis, F., Pinton, J. -F., Ravelet, F., Volk, R.   +13 more
core   +4 more sources

An Essential Postdevelopmental Role for Lis1 in Mice [PDF]

eneuro, 2018
LIS1 mutations cause lissencephaly (LIS), a severe developmental brain malformation. Much less is known about its role in the mature nervous system. LIS1 regulates the microtubule motor cytoplasmic dynein 1 (dynein), and as LIS1 and dynein are both expressed in the adult nervous system, Lis1 could potentially ...
Timothy J. Hines, Xu Gao, Subhshri Sahu, Meghann M. Lange, Jill R. Turner, Jeffery L. Twiss, Deanna S. Smith   +6 more
openaire   +2 more sources

Postnatal Mouse Brain Region‐Resolved Peptidomic Resource of Conditional Ndel1 Loss: Comparison of Acidic and Alcoholic Extraction Strategies

Journal of Neurochemistry, Volume 169, Issue 12, December 2025.
The Ndel1 protein is crucial for neurodevelopment, but its role in the brain peptidome is unknown. Here we compared the peptidome of Ndel1 conditional knockout (Ndel1_cKO) mice with controls (CTRL) in four brain regions. Peptides were extracted using acidic (Acetic Acid, AcOH) and organic (Methanol, MeOH) methods and analyzed by Liquid Chromatography ...
João V. Nani, Jackelinne Yuka Hayashi, Joana D. Campeiro, Guilherme Araújo Câmara, Atsushi Saito, William Y. Oyadomari, Akira Sawa, Atsushi Kamiya, Alexandre K. Tashima, Mirian A. F. Hayashi   +9 more
wiley   +1 more source

Fighting Cancer Stem Cell Fate by Targeting LIS1 a WD40 Repeat Protein

Frontiers in Oncology, 2019
Cancer is one of the most frequent and devastating diseases. Previous reports have shown that radio and chemo-resistant cancer stem cell (CSC) population is primarily responsible for cancer recurrences after radiotherapy and chemotherapy.
Felix M. Brehar, Felix M. Brehar, Mihnea P. Dragomir, Mihnea P. Dragomir, George E. D. Petrescu, George E. D. Petrescu, Radu M. Gorgan, Radu M. Gorgan   +7 more
doaj   +1 more source

A microscopy-based screen employing multiplex genome sequencing identifies cargo-specific requirements for dynein velocity [PDF]

, 2014
The timely delivery of membranous organelles and macromolecules to specific locations within the majority of eukaryotic cells depends on microtubule-based transport.
Abenza JF, Anthony J. Roberts, Bailleul B, Barbour L, Cho C, Eckley DM, Egan MJ, Egan MJ, Erzberger JP, Fernandez-Abalos JM, Galagan J, Gero Steinberg, Gibson DG, Hammer JA, Hendricks AG, Huang J, Ikenaga M, Imamula K, Kaeling Tan, Kon T, Laan L, Lee SB, Lefrancois P, Lenz JH, Li H, Li H, Ligon LA, Malone CJ, Mark Chonofsky, Martin J. Egan, McKenna A, Meyer M, Morris NR, Murakami K, Nayak T, Orr-Weaver TL, Perlson E, Qiu W, Reck-Peterson SL, Requena N, Samara L. Reck-Peterson, Schafer DA, Schmidt H, Seidel C, Shaner NC, Sivagurunathan S, Subach OM, Szewczyk E, Todd RB, Todd RB, Vogel SK, Wortman JR, Xiang X, Xiang X, Zhang J, Zhang J   +55 more
core   +3 more sources

Diagnosis and treatment of occipital brain lesions in children

Developmental Medicine &Child Neurology, Volume 67, Issue 11, Page 1409-1420, November 2025.
Occipital brain lesions in children represent a diagnostic challenge due to the large spectrum of etiologies and overlapping clinical features. This review analyses common and less common causes of occipital brain lesions in children, including malformative, vascular, genetic/metabolic, infectious, inflammatory, and neoplastic conditions.
Luca Bartolini, Giulia Savoca, Matteo Tassone, Tiziana Metitieri, Renzo Guerrini   +4 more
wiley   +1 more source

Malformations of cortical development: Embryology and epilepsy

Epilepsia, Volume 66, Issue 10, Page 3642-3655, October 2025.
Abstract One in seven patients with focal epilepsy has a malformation of cortical development (MCD) as underlying cause. Understanding normal cortical development combined with knowledge of where, when, and what goes wrong in different types of MCD provides insight into the mechanisms of epileptogenesis.
M. Christianne Hoeberigs, Simon Tousseyn, on behalf of the ACE Study Group, Gwendolyn de Bruyn, Albert Colon, Jim Dings, Marc Hendriks, Danny Hilkman, Christianne Hoeberigs, Jochem van der Pol, Lotte de Jong, Kim Rijkers, Sylvia Klinkenberg, Vivianne van Kranen Mastenbroek, Jeske Nelissen, Pieter Kubben, Walter M. Palm, Rob P. W. Rouhl, Remco Santegoeds, Olaf Schijns, Ilse van Straaten, Marielle Vlooswijk, Louis Wagner, Dorien Weckhuysen   +23 more
wiley   +1 more source