Results 81 to 90 of about 8,390 (226)

Malformations of cortical development: Embryology and epilepsy

Epilepsia, EarlyView.
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

DISC1 genetics, biology and psychiatric illness [PDF]

, 2013
Psychiatric disorders are highly heritable, and in many individuals likely arise from the combined effects of genes and the environment. A substantial body of evidence points towards DISC1 being one of the genes that influence risk of schizophrenia ...
A. Amador-Arjona, A. Ames 3rd, A. Chen, A. Crepel, A. D. Lopez, A. Dammermann, A. Enomoto, A. Giorgio Di, A. Guven, A. Hayashi-Takagi, A. Honda, A. Ingason, A. J. Ramsey, A. K. Alkhaja, A. K. Kähler, A. Kamiya, A. Kamiya, A. Louvi, A. Marley, A. Meyer-Lindenberg, A. Olincy, A. R. Kriegstein, A. Ram Murthy, A. Rastogi, A. Rauch, A. Raznahan, A. Schosser, A. Serretti, A. Steinecke, A. Wynshaw-Boris, A. Wynshaw-Boris, B. A. Karpinski, B. Abazyan, B. C. Carlyle, B. J. Maher, B. K. Tiwary, B. Kirkpatrick, C. H. Chiang, C. Korth, C. Korth, C. L. Frank, C. Lam, C. M. Drerup, C. Ott, C. P. Austin, D. Bartsch, D. C. Soares, D. H. Blackwood, D. Ibi, D. M. Collins, D. P. Prata, D. P. Prata, D. Porteous, D. R. Lemos, D. Wu, D. Zhou, E. A. Nigg, E. K. Green, E. K. Green, E. Kang, E. L. Malavasi, E. S. Gershon, E. Spiteri, E. Sprooten, F. H. Lee, F. Hildebrandt, F. Mouaffak, F. N. Haque, F. Papaleo, F. S. Alkuraya, F. Silva Alves da, F. Zheng, G. B. John, G. Chakirova, G. M. Rice, G. Rienzo De, G. T. Rezin, G. W. Beecham, H. B. Clay, H. C. Whalley, H. J. Carlisle, H. Koike, H. Le-Niculescu, H. Murdoch, H. Murdoch, H. R. Higginbotham, H. Shoji, H. Toda, I. Filges, I. Mata, I. Mathieson, J. A. Lee, J. A. Morris, J. A. Siuciak, J. An, J. C. Crabbe, J. D. Wood, J. E. Buizer-Voskamp, J. E. Chubb, J. E. Eykelenboom, J. E. Landers, J. E. Zimmerman, J. H. Callicott, J. Ikuta, J. J. Breunig, J. K. Millar, J. K. Millar, J. K. Millar, J. K. Millar, J. K. Millar, J. Os van, J. P. McEvoy, J. S. Domire, J. Schumacher, J. Y. Kim, J. Y. Kim, J. Yingling, J.M. Williams, K. Ameri, K. D. Meyer, K. E. Burdick, K. E. Miller, K. Ishizuka, K. Jepsen, K. K. Nicodemus, K. K. Singh, K. K. Singh, K. Kubo, K. Kuroda, K. Maeda, K. Miyoshi, K. Miyoshi, K. Mykytyn, K. Nakata, K. R. Rosenbloom, K. Tomita, K. Ushijima, K. Wulff, K. Wulff, L. A. Greene, L. K. Paul, L. M. Houlihan, L. Ma, L. N. Moens, L. V. Kristiansen, L.M. Camargo, M. A. Carless, M. A. Trinh, M. Ayalew, M. Bakircioglu, M. Costa-Mattioli, M. Costa-Mattioli, M. D. Houslay, M. Gentile, M. Händel, M. Kuijpers, M. Kvajo, M. Kvajo, M. M. Chakravarty, M. Niwa, M. S. Taylor, M. V. Pletnikov, M. Valiente, M. Yi, M.J. Puthuran, N. A. Sachs, N. D. Hanson, N. F. Berbari, N. J. Bradshaw, N. J. Bradshaw, N. J. Bradshaw, N. J. Brandon, N. J. Brandon, N. J. Brandon, N. Kumamoto, N. Osbun, N. Sawamura, N. Sawamura, O. M. Palo, O. Reiner, O. Zuk, P. A. Thomson, P. F. Sullivan, P. Jia, P. Katsel, P. Ottis, P. R. Szeszko, P. Saetre, P. Schulz, Q. Wang, Q. Wei, R. 3. Flores, R. Boxall, R. Debono, R. Hashimoto, R. James, R. L. Faulkner, R. M. Walker, S. Brauns, S. C. Vernes, S. Chiba, S. E. Harris, S. Hoppins, S. J. Clapcote, S. Kim, S. Koyanagi, S. L. Eastwood, S. L. Eastwood, S. M. Brown, S. Narayanan, S. R. Leliveld, S. R. Leliveld, S. Sasaki, S. Seshadri, S. Shen, S. Shimizu, S. Taya, S. Y. Chen, T. A. Atkin, T. A. Atkin, T. A. Green, T. D. Cannon, T. Fujita, T. Fukuda, T. Hikida, T. Igarashi, T. J. Stuhlmiller, T. L. Gasperoni, T. L. Young-Pearse, T. L. Young-Pearse, T. Nagai, T. Namba, T. Shinoda, T. Takahashi, T. V. Lipina, T. V. Lipina, T. V. Lipina, V. M. Pogorelov, W. Hennah, W. Hennah, W. Hennah, W. Li, W. Song, W. Song, X. Duan, X. J. Han, X. Zhou, X. Zhou, Y. Feng, Y. G. Han, Y. Hotta, Y. Mao, Y. Ozeki, Y. U. Park, Y. Wang, Y. Watatani   +255 more
core   +1 more source

Differential Effects of LIS1 On Processive Dynein-Dynactin Motility [PDF]

, 2017
AbstractCytoplasmic dynein is the primary minus-end directed microtubule motor protein in cells. LIS1 is a highly conserved dynein regulatory factor that binds directly to the dynein motor domain, uncoupling the enzymatic and mechanical cycles of the motor, and stalling dynein on the microtubule track.
Pedro Antonio Gutiérrez, Richard J. McKenney   +1 more
openalex   +3 more sources

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

Lissencephaly-1 is a context-dependent regulator of the human dynein complex

eLife, 2017
The cytoplasmic dynein-1 (dynein) motor plays a central role in microtubule organisation and cargo transport. These functions are spatially regulated by association of dynein and its accessory complex dynactin with dynamic microtubule plus ends. Here, we
Janina Baumbach, Andal Murthy, Mark A McClintock, Carly I Dix, Ruta Zalyte, Ha Thi Hoang, Simon L Bullock   +6 more
doaj   +1 more source

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

Aetiopathogenesis of infantile epileptic spasms syndrome and mechanisms of action of adrenocorticotrophin hormone/corticosteroids in children: A scoping review

Developmental Medicine &Child Neurology, Volume 67, Issue 8, Page 1004-1025, August 2025.
Why does infantile epileptic spasms syndrome (IESS) occur with a variety of underlying conditions and why does it respond to adrenocorticotrophin hormone (ACTH)/corticosteroids? Our scoping review summarizes five hypotheses from the literature: gene/epigenetic regulation, stress/HPA axis activation, neuroinflammation/immune function, altered neuronal ...
Emily A. Innes, Velda X. Han, Shrujna Patel, Michelle A. Farrar, Deepak Gill, Shekeeb S. Mohammad, Russell C. Dale   +6 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

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

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