Results 71 to 80 of about 4,135 (194)

GNAO1 encephalopathy: broadening the phenotype and evaluating treatment and outcome [PDF]

, 2017
OBJECTIVE: To describe better the motor phenotype, molecular genetic features, and clinical course of GNAO1-related disease. METHODS: We reviewed clinical information, video recordings, and neuroimaging of a newly identified cohort of 7 patients ...
Bianchini, C, Carss, Kj, Dale, Rc, Danti, FEDERICA RACHELE, Galosi, Serena, Guerrini, R. 1., Kurian, Ma, Leuzzi, Vincenzo, Mahant, N, Mcshane, T, Mctague, A, Mohammad, Ss, Montomoli, M, Ng, J, Parrini, E, Raymond, Fl, Romani, M, Samanta, R, Shah, U, Vadlamani, G, Valente, Em   +20 more
core   +3 more sources

Translating advances in the molecular basis of schizophrenia into novel cognitive treatment strategies [PDF]

, 2017
The presence and severity of cognitive symptoms, including working memory, executive dysfunction and attentional impairment, contributes materially to functional impairment in schizophrenia.
Abdolmaleky, Abe, Alexander, Alexander, Alexander, Alexander, Alexander, Allen, Anagnostaras, Babovic, Bado, Ballard, Barch, Bartko, Basu, Beaulieu, Bogdan, Bugarski-Kirola, Bugarski-Kirola, Burdick, Cannon, Carpenter, Carr, Carter, Chen, Chong, Chong, Chubb, Clapcote, Clifton, CNV and Schizophrenia Working Groups of the Psychiatric Genomics Consortium, Cohen, Cope, Cosgrove, Cui, Cuthbert, Devaraju, Devito, Downing, Duan, Duffy, Dunlop, Egerton, El-Ghundi, Evensen, Falkenberg, Farrell, Fernandes, Freedman, Fromer, Fujioka, Gatt, Genovese, Ghoshal, Glahn, Gogos, Gong, Gonzalez-Burgos, Gottesman, Gould, Grannan, Green, Hahn, Hall, Hall, Harris, Harrison, Harrison, Hennah, Holmes, Hopkins, Howes, Howes, Hoyle, Iacono, Iacono, International Schizophrenia Consortium, Iwakura, Jentsch, Johnson, Johnson, Johnstone, Jonas, Jones, Kaiser, Kao, Karam, Karlsgodt, Kato, Kern, Kinon, Kirov, Kleinman, Kogan, Koike, Krivoy, Krivoy, Kunii, Kvajo, Labrie, Law, Law, Law, Lee, Lencz, Lerner, Lewis, Li, Li, Li, Lieblich, Lin, Lipina, Long, Maric, McCarroll, Meechan, Meechan, Mei, Mexal, Miyakawa, Moore, Moran, Moran, Morris, Mostaid, Muir, Mukai, Munafò, Neddens, Neddens, Nicodemus, Nicodemus, Nong, Nuechterlein, Nuechterlein, O'Tuathaigh, O'Tuathaigh, O'Tuathaigh, Ouchi, Pan, Papaleo, Papaleo, Papaleo, Papaleo, Papaleo, Park, Parlapani, Paterlini, Paterson, Patil, Pei, Petit, Piskorowski, Pletnikov, Porteous, Pratt, Preskorn, Prickaerts, Pritchett, Pritchett, Pull, Rafter, Reynolds, Ribeiz, Rosell, Ruderfer, Sarter, Schizophrenia Working Group of the Psychiatric Genomics Consortium, Schlumberger, Schneider, Schubert, Seamans, Ser, Shekhar, Shiraishi, Shirey, Sigurdsson, Singer, Singer, Singh, Siuta, Southan, Stark, Stauffer, Stefanis, Stroup, Su, Suzuki, Svensson, Takao, Talbot, Talbot, Tamura, Tandon, Tang, Tost, Tunbridge, Turetsky, Urs, Urs, Veerman, Vijayraghavan, Waddington, Walling, Walsh, Walters, Wang, Wang, Weickert, Weickert, Weinberg, Weinstein, Weiser, Winchester, Woolley, Xu, Yee, Young, Young, Young, Young, Young, Young, Young, Zai, Zhang, Zhou   +227 more
core   +2 more sources

Recent Synthetic Advances in C–H/N–H Functionalization of 1H‐Pyrazoles: Diverse Strategies Across Variously Substituted Scaffolds

The Chemical Record, Volume 25, Issue 12, December 2025.
Systematic overview of pyrazole functionalization reactions from C‐5 to N−H. It covers different strategies, from traditional cross‐coupling of prefunctionalized pyrazoles to more efficient direct functionalizations. This review briefly and systematically overviews C–H and N–H functionalization reactions of pyrazoles, aimed at creating new CC and C ...
Karolina Dzedulionytė Müldür, Asta Žukauskaitė, Algirdas Šačkus, Eglė Arbačiauskienė   +3 more
wiley   +1 more source

Gene expression within the extended amygdala of 5 pairs of rat lines selectively bred for high or low ethanol consumption [PDF]

, 2013
The objectives of this study were to determine innate differences in gene expression in 2 regions of the extended amygdala between 5 different pairs of lines of male rats selectively bred for high or low ethanol consumption: a) alcohol-preferring (P) vs.
Bell, Richard L., Colombo, Giancarlo, Ding, Zheng-Ming, Edenberg, Howard J., Hyytia, Petri, Kimpel, Mark W., Liang, Tiebing, Lumeng, Lawrence, McBride, William J., McClintick, Jeanette N.   +9 more
core   +2 more sources

The Concise Guide to PHARMACOLOGY 2025/26: Enzymes

British Journal of Pharmacology, Volume 182, Issue S1, Page S307-S403, December 2025.
The Concise Guide to Pharmacology 2025/26 marks the seventh edition in this series of biennial publications in the British Journal of Pharmacology. Presented in landscape format, the guide provides a comparative overview of the pharmacology of drug target families. The concise nature of the Concise Guide refers to the style of presentation, being clear,
Stephen P. H. Alexander, Doriano Fabbro, Alasdair J. Gibb, Eamonn Kelly, Alistair A. Mathie, Chloe J. Peach, Emma L. Veale, Jane F. Armstrong, Elena Faccenda, Simon D. Harding, Christopher Southan, Jamie A. Davies, Stephanie Annett, Detlev Boison, Kathryn Elisa Burns, Carmen Dessauer, Jürg Gertsch, Nuala Ann Helsby, Angelo A. Izzo, Rennolds Ostrom, Ester Pagano, Andreas Papapetropoulos, Nigel J. Pyne, Susan Pyne, Tracy Robson, Roland Seifert, Johannes‐Peter Stasch, Csaba Szabo, Mario van der Stelt, Albert van der Vliet, Val Watts, Szu Shen Wong   +31 more
wiley   +1 more source

Motor, epileptic, and developmental phenotypes in genetic disorders affecting G protein coupled receptors-cAMP signaling

Frontiers in Neurology, 2022
Over the last years, a constantly increasing number of genetic diseases associated with epilepsy and movement disorders have been recognized. An emerging group of conditions in this field is represented by genetic disorders affecting G-protein-coupled ...
Serena Galosi, Luca Pollini, Maria Novelli, Katerina Bernardi, Martina Di Rocco, Simone Martinelli, Vincenzo Leuzzi   +6 more
doaj   +1 more source

Chorea-related mutations in PDE10A result in aberrant compartmentalization and functionality of the enzyme [PDF]

, 2020
A robust body of evidence supports the concept that phosphodiesterase 10A (PDE10A) activity in the basal ganglia orchestrates the control of coordinated movement in human subjects.
Baillie, George S., Brandon, Nicholas J., Bürli, Roland W., Deeb, Tarek Z., Moss, Stephen J., Sheridan, Eamonn, Tejeda, Gonzalo S., Whiteley, Ellanor L.   +7 more
core   +1 more source

Maternal Nutritional Status Governs Fetal Development by Modulating Imprinting Gene GAB1‐Mediated Trophoblast Differentiation in the Placenta

Cell Proliferation, Volume 58, Issue 12, December 2025.
Maternal nutrient restriction disrupts placental homeostasis via GAB1 dysregulation—involving both transcriptional downregulation and autophagy‐dependent protein degradation. These molecular alterations inhibit MAPK signalling‐mediated trophoblast fusion, leading to structural and functional deficits in the maternal–fetal exchange interface.
Mingming Fan, Hongyu Wu, Yuan Xie, Ming Liu, Xin Yu, Feiyang Wang, Zhenyu Xiao, Hongmei Wang, Xuan Shao, Yan‐Ling Wang   +9 more
wiley   +1 more source

Levodopa-induced dyskinesia in Parkinson disease: Current and Evolving Concepts. [PDF]

, 2018
Levodopa‐induced dyskinesia is a common complication in Parkinson disease. Pathogenic mechanisms include phasic stimulation of dopamine receptors, nonphysiological levodopa‐to‐dopamine conversion in serotonergic neurons, hyperactivity of corticostriatal ...
Ahlskog, Ahmed, Alcacer, Antonini, Barnum, Bastide, Bez, Bezard, Bezard, Bordia, Calabresi, Calabresi, Carlsson, Carta, Cerasa, Cerasa, Cerasa, Cerasa, Cilia, Durif, Durif, Elia, Espay, Espay, Fahn, Fahn, Fasano, Feyder, Fieblinger, Fiorentini, Fox, Fox, Fox, Freitas, Fuente-Fernandez, Garcia, Gardoni, Gerlach, Goetz, Goetz, Grandas, Gray, Grondin, Herz, Herz, Herz, Huang, Hung, Huot, Iderberg, Jones, Katzenschlager, Kimber, Kishore, Kleiner-Fisman, Kosillo, Krack, Laere, Lau, Lee, Lee, Lim, Litim, Mansouri, Mellone, Meloni, Merola, Morgante, Morgese, Mura, Nadjar, Niccolini, Nicoletti, Nutt, Olanow, Olanow, Pahwa, Parkinson Study Group, Pavon, Picconi, Politis, Porras, Potts, Prescott, Rocha, Rosa, Rosa, Roussakis, Ruzicka, Samadi, Santini, Shen, Sierra, Smith, Stanic, Stathis, Stelt, Suarez, Svenningsson, Swann, Tanaka, Thiele, Tison, Trenkwalder, Verhagen Metman, Whone, Wichmann, Wood, Yamamura   +108 more
core   +1 more source

Cytokine, Chemokine, and Neurofilament Light Chain Signatures in LGI1 Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, Volume 12, Issue 11, Page 2258-2270, November 2025.
ABSTRACT Objectives To investigate the value of cytokine, chemokine, and neurofilament light chain (NfL) concentrations in predicting relapse risk, chronic epilepsy, and functional impairment in LGI1 autoimmune encephalitis (AE). Methods Cytokines/chemokines (IL‐1‐beta, IL‐2, IL‐4, IL‐5, IL‐6, IL‐8/CXCL8, IL‐10, IL‐12p70, IL‐13, IL‐17A, GM‐CSF, TNF ...
Albert Aboseif, Georgios Mangioris, Binxia Yang, Vanessa K. Pazdernik, Jeffrey W. Britton, Divyanshu Dubey, Eoin P. Flanagan, Sarosh R. Irani, Gregory S. Day, Charles L. Howe, A. Sebastian López‐Chiriboga, Andrew McKeon, John R. Mills, Yahel Segal, Michel Toledano, Ivana Vodopivec, Sean J. Pittock, Anastasia Zekeridou   +17 more
wiley   +1 more source