Oral phenotype and scoring of vascular Ehlers–Danlos syndrome: a case–control study by Lisa Golmard, Ariane Berdal, François Côme Ferré, Michael Frank, Bruno Gogly, Adrien Naveau, Hafida Chérifi, Joseph Emmerich, Frédérick Gaultier, Xavier Jeunemaitre, Benjamin P J Fournier

“…Objective Vascular Ehlers–Danlos syndrome (vEDS) is a rare genetic condition related to mutations in the COL3A1 gene, responsible of vascular, digestive and uterine accidents. …”
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An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants by Bruce Nmezi, Guillermo Rodriguez Bey, Talia DeFrancesco Oranburg, Kseniia Dudnyk, Santana M. Lardo, Nathan Herdman, Anastasia Jacko, Sandy Rubio, Emanuel Loeza-Alcocer, Julia Kofler, Dongkyeong Kim, Julia Rankin, Emma Kivuva, Nicholas Gutowski, Katherine Schon, Jelle van den Ameele, Patrick F. Chinnery, Sérgio B. Sousa, Filipe Palavra, Camilo Toro, Filippo Pinto e Vairo, Jonas Saute, Lisa Pan, Murad Alturkustani, Robert Hammond, Francois Gros-Louis, Michael S. Gold, Yungki Park, Geneviève Bernard, Raili Raininko, Jian Zhou, Sarah J. Hainer, Quasar S. Padiath

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Quantitative N-glycoproteomic analysis reveals glycosylation signatures of plasma immunoglobulin G in systemic sclerosis by Lu Cheng, Lu Cheng, Yanhong Li, Yu Zhou, Yingying Ling, Tong Wu, Zongan Liang, Yinlan Wu, Chunyu Tan, Yi Liu, Yong Zhang

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Paracrine activity of Smurf1-silenced mesenchymal stem cells enhances bone regeneration and reduces bone loss in postmenopausal osteoporosis by Alberto González-González, Itziar Álvarez-Iglesias, Daniel García-Sánchez, Monica Dotta, Ricardo Reyes, Ana Alfonso-Fernández, Alfonso Bolado-Carrancio, Patricia Díaz-Rodríguez, María Isabel Pérez-Núñez, José Carlos Rodríguez-Rey, Jesús Delgado-Calle, Flor M. Pérez-Campo

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Clinical, genomic, and histopathologic diversity in cerebral cavernous malformations by Jian Ren, Daochao Wang, Leiming Wang, Chendan Jiang, An Tian, Ziwei Cui, Yeqing Ren, Lisong Bian, Gao Zeng, Guolu Meng, Yongzhi Shan, Jiantao Liang, Xinru Xiao, Jie Tang, Yukui Wei, Chuan He, Liyong Sun, Yongjie Ma, Jiaxing Yu, Guilin Li, Ming Ye, Peng Hu, Jingwei Li, Ye Li, Lijian Niu, Qianwen Li, Feng Ling, Jan-Karl Burkhardt, Hongqi Zhang, Tao Hong

“…This study aimed to clarify the clinical, genetic, and pathological features of CCMs using a multicenter cohort across three Chinese centers. …”
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Sex differences in the peripheral levels of cytokines during 12-month antipsychotic treatment in a drug-naïve schizophrenia spectrum cohort by I. Ratke, A. Torsvik, C.A. Bartz-Johannessen, F. Fathian, I. Joa, S.M. Klæbo Reitan, E.M. Løberg, M. Rettenbacher, S. Skrede, V.M. Steen, E. Johnsen, R.A. Kroken

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Prion protein promotes copper toxicity in Wilson disease by Raffaella Petruzzelli, Federico Catalano, Roberta Crispino, Elena V. Polishchuk, Mariantonietta Elia, Antonio Masone, Giada Lavigna, Anna Grasso, Maria Battipaglia, Lucia Vittoria Sepe, Banu Akdogan, Quirin Reinold, Eugenio Del Prete, Diego Carrella, Annalaura Torella, Vincenzo Nigro, Enrico Caruso, Nicole Innocenti, Emiliano Biasini, Ludmila V. Puchkova, Alessia Indrieri, Ekaterina Y. Ilyechova, Pasquale Piccolo, Hans Zischka, Roberto Chiesa, Roman S. Polishchuk

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Protein arginine methyltransferase 7 linked to schizophrenia through regulation of neural progenitor cell proliferation and differentiation by Ting Shen, Jing Yu, Bin Xie, Cuiping Huang, Jingjie Cui, Kefu Liu, Chunyu Liu, Chao Chen

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Efficacy of identifying Treatment-Resistant and non-Treatment-Resistant Schizophrenia using niacin skin flushing response combined with clinical feature by Jizhi Wang, Jinfeng Wang, Siyuan Wang, Yu Gu, Kai Liang, Yingxu Li, Zheng Zhang, Yan Li, Xiaoping Wang, Huijuan Guo, Jiansong Zhou

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Microplastics: A threat to Fetoplacental unit and Reproductive systems by Abass Toba Anifowoshe, Md Noor Akhtar, Abisola Majeed, Asem Sanjit Singh, Toyyibah Funmilayo Ismail, Upendra Nongthomba

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Heterogeneous clinical phenotypes of sporadic early-onset Alzheimer’s disease: a neuropsychological data-driven approach by Deepti Putcha, Yuta Katsumi, Alexandra Touroutoglou, Ani Eloyan, Alexander Taurone, Maryanne Thangarajah, Paul Aisen, Jeffrey L. Dage, Tatiana Foroud, Clifford R. Jack, Joel H. Kramer, Kelly N. H. Nudelman, Rema Raman, Prashanthi Vemuri, Alireza Atri, Gregory S. Day, Ranjan Duara, Neill R. Graff-Radford, Ian M. Grant, Lawrence S. Honig, Erik C. B. Johnson, David T. Jones, Joseph C. Masdeu, Mario F. Mendez, Erik Musiek, Chiadi U. Onyike, Meghan Riddle, Emily Rogalski, Stephen Salloway, Sharon Sha, R. Scott Turner, Thomas S. Wingo, David A. Wolk, Kyle Womack, Maria C. Carrillo, Gil D. Rabinovici, Bradford C. Dickerson, Liana G. Apostolova, Dustin B. Hammers, the LEADS Consortium

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Gender Dysphoria and Its Non-Surgical and Surgical Treatments by Danyon Anderson, Himasa Wijetunge, Peyton Moore, Daniel Provenzano, Nathan Li, Jamal Hasoon, Omar Viswanath, Alan D. Kaye, Ivan Urits

“…The pathophysiology of gender dysphoria is multifactorial and incompletely understood. Genetics, androgen exposure, neuroanatomy, brain connectivity, history of trauma, parents with psychological disorders, and being raised by less than two parents are associated with gender dysphoria. …”
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Cellular rejuvenation protects neurons from inflammation-mediated cell death by Sienna S. Drake, Abdulshakour Mohammadnia, Aliyah Zaman, Christine Gianfelice, Kali Heale, Adam M.R. Groh, Elizabeth M.-L. Hua, Matthew A. Hintermayer, Yuancheng Ryan Lu, David Gosselin, Stephanie Zandee, Alexandre Prat, Jo Anne Stratton, David A. Sinclair, Alyson E. Fournier

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The endocytic adaptor AP-2 maintains Purkinje cell function by balancing cerebellar parallel and climbing fiber synapses by Marianna Tolve, Janine Tutas, Ebru Özer-Yildiz, Ines Klein, Anne Petzold, Veronika J. Fritz, Melina Overhoff, Quinn Silverman, Ellie Koletsou, Filip Liebsch, Guenter Schwarz, Tatiana Korotkova, Silvana Valtcheva, Graziana Gatto, Natalia L. Kononenko

“…Summary: The loss of cerebellar Purkinje cells is a hallmark of neurodegenerative movement disorders, but the mechanisms remain enigmatic. We show that endocytic adaptor protein complex 2 (AP-2) is crucial for Purkinje cell survival. …”
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Predicting amyloid proteins using attention-based long short-term memory by Zhuowen Li

“…Alzheimer’s disease (AD) is one of the genetically inherited neurodegenerative disorders that mostly occur when people get old. …”
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The hypolipidemic effect of MI-883, the combined CAR agonist/ PXR antagonist, in diet-induced hypercholesterolemia model by Jan Dusek, Ivana Mejdrová, Klára Dohnalová, Tomas Smutny, Karel Chalupsky, Maria Krutakova, Josef Skoda, Azam Rashidian, Ivona Pavkova, Kryštof Škach, Jana Hricová, Michaela Chocholouskova, Lucie Smutna, Rajamanikkam Kamaraj, Miloš Hroch, Martin Leníček, Stanislav Mičuda, Dirk Pijnenburg, Rinie van Beuningen, Michal Holčapek, Libor Vítek, Magnus Ingelman-Sundberg, Oliver Burk, Thales Kronenberger, Radim Nencka, Petr Pavek

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Comparison of specialist ataxia centres with non-specialist services in terms of care access and organisation, health services resource utilisation and costs in Germany using patie... by Julie Vallortigara, Julie Greenfield, Barry Hunt, Holm Graessner, Carola Reinhard, Andreas Nadke, Bart-Jan Schuman, Deborah Hoffman, Steve Morris, Paola Giunti

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Incidence of extended spectrum beta-lactamase (ESBL) producing Escherichia coli isolated from women with urinary tract infections in Jordan by Rania Al-Groom

“…In addition, clinical disorders may result from the presence of bacteria or fungi in urine. …”
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Predictive value of different baseline optical coherence tomography biomarkers for visual acuity changes in neovascular age-related macular degeneration by Hamid Riazi-Esfahani, Hooshang Faghihi, Fatemeh Bazvand, Mohammadreza Mehrabi Bahar, Hassan Khojasteh, Ahmed Husein Ahmed, Shahin Faghihi, Ali Fakhraie, Mohammad Hossein Zamani, Samin Ghasemi, Esmaeil Asadi Khameneh, Elias Khalili Pour

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Effective gene therapy for metachromatic leukodystrophy achieved with minimal lentiviral genomic integrations by Lucas Tricoli, Sunetra Sase, Julia L. Hacker, Vi Pham, Maxwell Chappell, Laura Breda, Stephanie N. Hurwitz, Naoto Tanaka, Carlo Castruccio Castracani, Amaliris Guerra, Zhongqi Hou, Lars Schlotawa, Karthikeyan Radhakrishnan, Matthew Hogenauer, Aoife Roche, John Everett, Frederic Bushman, Peter Kurre, Rebecca Ahrens-Nicklas, Laura A. Adang, Adeline L. Vanderver, Stefano Rivella

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