Results 141 to 150 of about 1,989,460 (302)
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang +21 morewiley +1 more sourceTiO2 nanotube platforms for smart drug delivery: a review
International Journal of Nanomedicine, 2016 Qun Wang,1,2,* Jian-Ying Huang,1,* Hua-Qiong Li,3 Zhong Chen,4 Allan Zi-Jian Zhao,3 Yi Wang,3 Ke-Qin Zhang,1 Hong-Tao Sun,2 Salem S Al-Deyab,5 Yue-Kun Lai1 1National Engineering Laboratory for Modern Silk, College of Textile and Clothing Engineering ...Wang Q, Huang JY, Li HQ, Chen Z, Zhao AZJ, Wang Y, Zhang KQ, Sun HT, Al-Deyab SS, Lai YK +9 moredoaj Comparing the Effect of Semi‐Immersive Virtual Reality, Computerized Cognitive Training, and Traditional Rehabilitation on Cognitive Function in Multiple Sclerosis: A Randomized Clinical Trial
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background
Cognitive impairment is a common non‐motor symptom in Multiple Sclerosis (MS), negatively affecting autonomy and Quality of Life (QoL). Innovative rehabilitation strategies, such as semi‐immersive virtual reality (VR) and computerized cognitive training (CCT), may offer advantages over traditional cognitive rehabilitation (TCR ...Maria Grazia Maggio, Desiree Latella, Lilla Bonanno, Paulo Cezar Rocha dos Santos, Marcos Maldonado‐Díaz, Meir Plotnik, Rosaria De Luca, Angelo Quartarone, Rocco Salvatore Calabrò +8 morewiley +1 more sourceUnraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...Melissa B. DeLeeuw, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang +5 morewiley +1 more sourcePlasma EV Proteomics Identifies ECM Remodeling and Inflammatory Proteins LUM and C7 as Candidate Biomarkers in FSHD
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...Mustafa Bilal Bayazit, Chiranth K. Nagaraj, Jackson S. Newell, Kim Truc Nguyen, Xilal Y. Rima, Jacob Doon‐Ralls, Eduardo Reátegui, Jeffrey M. Statland, Rabi Tawil, Kevin M. Flanigan, Scott Q. Harper, Nizar Y. Saad +11 morewiley +1 more sourceIntegration of Serum Neurofilament Light Chain and Cortical Dysfunction Improves Diagnostic Accuracy in ALS
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
To determine whether integration of serum neurofilament light chain (NfL) and cortical dysfunction improves diagnostic accuracy in amyotrophic lateral sclerosis (ALS) when applied alongside the Gold Coast criteria (GCC). Methods
In this prospective study, 148 participants with suspected ALS were recruited (101 ALS and 47 with ALS ...Aicee Dawn Calma, Nathan Pavey, Yukiko Tsuji, Amirul Ab Ghapar, Mehdi A.J. van den Bos, Bronwen Orden, Grace Lee, Linda Mekhael, Julie Ryder, Cláudia Santos Silva, David McDonald, Fakhria Kakar, Con Yiannikas, Matthew C. Kiernan, David A. Brown, Parvathi Menon, Steve Vucic +16 morewiley +1 more sourceClinical Impact of MGMT Promoter Methylation in IDH‐Mutant Gliomas: Influence of Threshold Selection and Clinical Confounding
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background
The clinical relevance of MGMT promoter methylation in IDH‐mutant gliomas remains controversial in the era of molecular classification. We aimed to systematically evaluate its clinical relevance by integrating quantitative assessment, cutoff exploration, and adjustment for clinical confounding.Haihui Jiang, Linxi Cao, Xiaodong Chen, Siqi Tong, Qinghui Zhu, Jun Yang, Song Lin, Yong Cui +7 morewiley +1 more sourceBiodegradable drug-eluting nanofiber-enveloped implants for sustained release of high bactericidal concentrations of vancomycin and ceftazidime: in vitro and in vivo studies
, 2014 Yung-Heng Hsu,1,2 Dave Wei-Chih Chen,1 Chun-Der Tai,3 Ying-Chao Chou,1,2 Shih-Jung Liu,2 Steve Wen-Neng Ueng,1 Err-Cheng Chan4 1Department of Orthopedic Surgery, Chang Gung Memorial Hospital, Guishan Township, 2Department of Mechanical Engineering ...Hsu YH, Liu SJ, Chen DWC, Chou YC, Ueng SWN, Tai CD, Chan EC +6 morecore Cumulative Social Disadvantage and Disease Activity in Juvenile Idiopathic Arthritis: A Childhood Arthritis and Rheumatology Research Alliance Registry Study
Arthritis Care &Research, EarlyView.Objective
Social determinants of health (SDOH) contribute to juvenile idiopathic arthritis (JIA) disparities, but most studies have assessed SDOH independently rather than cumulatively across individual, family, and neighborhood levels. Using a socioecological framework, we investigated the relationship among cumulative social disadvantage ...William Daniel Soulsby, John Boscardin, Andrea Knight, Daniel B. Horton, Karine Toupin‐April, Emily von Scheven, on behalf of the Childhood Arthritis and Rheumatology Research Alliance (CARRA) Registry Investigators and for the CARRA Health Equity Work Group, R. Aamir, K. Abulaban, A. Adams, C. Aguiar Lapsia, H. Ahmed, S. Akoghlanian, A. AlBijadi, E. Allenspach, M. Alpizar, G. Amarilyo, M. Amoruso, S. Angeles‐Han, S. Ardoin, S. Armendariz, N. Aviran Dagan, I. Balboni, S. Balevic, S. Ballinger, S. Baluta, L. Barillas‐Arias, L. Barillas‐Arias, M. Basiaga, K. Baszis, M. Becker, A. Begezda, E. Beil, H. Bell‐Brunson, H. Benham, S. Benseler, L. Bermudez‐Santiago, W. Bernal, T. Bigley, C. Bingham, B. Binstadt, C. Black, B. Blackmon, M. Blakley, J. Bohnsack, A. Boneparth, H. Bradfield, J. Bridges, E. Brooks, M. Brothers, D. Brown, H. Brunner, L. Buckley, Mary Buckley, Meredith Buckley, H. Bukulmez, D. Bullock, A. Cancino, S. Canna, L. Cannon, S. Canny, V. Cartwright, E. Chalom, Johanna Chang, Joyce Chang, M. Chang, A. Chang‐Hoftman, A. Chen, P. Chiraseveenuprapund, K. Ciaglia, M. Cidon, D. Co, E. Cohen, R. Connor, K. Cook, A. Cooper, J. Cooper, K. Corbin, C. Correll, R. Cron, M. Curry, A. Dagci, A. Dalrymple, E. Datyner, T. Davis, D. De Ranieri, J. Dean, C. DeCoste, F. Dedeoglu, M. DeGuzman, N. Delnay, E. L. DeSantis, R. Devine, M. Dhalla, A. Dhanrajani, D. Dissanayake, B. Dizon, J. Drew, K. Driest, Q. Du, E. Duncan, K. Dunnock, D. Durkee, J. Dvergsten, A. Eberhard, K. Ede, B. Edelheit, C. Edens, M. Elder, Y. Elzaki, C. Failing, D. Fair, L. Favier, B. Feldman, J. Fennell, I. Ferguson, P. Ferguson, C. Figueroa, E. Flanagan, L. Fogel, E. Fox, M. Fox, L. Franklin, R. Fuhlbrigge, J. Fuller, T. Futch‐West, S. Gagne, M. Geiszler, D. Gerstbacher, M. Gilbert, A.C. Gironella, D. Glaser, I. Goh, S. Gorry, N. Goswami, B. Gottlieb, T. Graham, S. Grevich, T. Griffin, A. Grim, A. Grom, M. Guevara, L. Guzman, T. Hahn, O. Halyabar, E. Hammelev, T. Hammond, S. Haro, J. Harris, O. Harry, J. Hausmann, A. Hay, K. Hays, K. Hayward, L. Henderson, M. Henrickson, A. Hersh, L. Hiraki, M. Hiskey, P. Hobday, C. Hoffart, M. J. Holland, M. Hollander, S. Hong, D. Horton, J. Hsu, A. Huber, J. Huggins, J. Hui‐Yuen, M. Ibarra, A. Imlay, L. Imundo, C. Inman, A. Jackson, K. James, G. Janow, Y. Jiang, L. Johnson, N. Johnson, J. Jones, D. Kafisheh, K. Kaidar, S. Kasinathan, R. Kaur, E. Kessler, B. Kienzle, S. Kim, Y. Kimura, D. Kingsbury, M. Kitcharoensakkul, J. Klauss, K. Klein, M. Klein‐Gitelman, A. Knight, L. Kovalick, D. Krajewski, C. Kremer, T. LaFlam, B. Lang, S. Lapidus, B. Lapin, A. Lasky, E. Lawson, R. Laxer, A. Lee, Patricia Lee, Pui Lee, T. Lee, E. Leisinger, L. Lentini, M. Lerman, Y. Levinsky, D. Levy, S. Li, S. Lieberman, L. Lim, E. Limenis, C. Lin, N. Ling, G. Lionetti, R. Livny, M. Lo, A. Long, M. Lopez‐Peña, D. Lovell, S. Lvovich, A. Lytch, M. Ma, A. Machado, J. MacMahon, J. Madison, M. Mannion, C. Manos, L. Mansfield, B. Marston, K. Marzan, T. Mason, S. Matossian, L. McAllister, K. McBrearty, D. McCurdy, K. McDaniels, J. McDonald, L. McIntosh, E. Meidan, E. Mellins, Z. Mian, P. Miettunen, M. Miller, D. Milojevic, R. Mitacek, R. Modica, S. Mohan, K. Moore, T. Moore, L. Moorthy, J. Moreno, E. Morgan, A. Moyer, B. Murante, A. Murphy, E. Muscal, O. Mwizerwa, A. Najafi, K. Nanda, L. Nassi, S. Nativ, M. Natter, J. Neely, L. Newhall, A. Nuyen, P. Nigrovic, J. Nocton, B. Nolan, A. Nowakowski, K. Nowicki, R. Oakes, E. Oberle, S. Ogbonnaya‐Whittesley, E. Ogbu, M. Oliver, R. Olveda, K. Onel, A. Orandi, J. Padam, N. Pan, J. Pandya, S. Panupattanapong, A. Pappo Toledano, J. Patel, P. Patel, A. Patrick, S. Patrizi, S. Paul, J. Perfetto, M. Perron, M. Peskin, C. Pinotti, L. Ponder, R. Pooni, S. Prahalad, M. Quinlan‐Waters, J. Rafko, H. Rahimi, S. Ramsey, R. Randell, L. Ray, Ann Reed, Annelle Reed, H. Reid, D. Reiff, I. Reyhan, B. Richard, M. Riebschleger, E. Rife, M. Riskalla, A. Robinson, L. Robinson, L. Rodgers, M. Rodriquez, D. Rogers, T. Ronis, A. Rosado, M. Rosenkranz, N. Rosenwasser, H. Rothermel, D. Rothman, E. Rothschild, K. Rouster ‐ Stevens, T. Rubinstein, N. Ruth, S. Sabbagh, R. Sadun, L. Santiago, V. Saper, A. Sarkissian, L. Scalzi, J. Schahn, K. Schikler, A. Schlefman, B. Schlichting, H. Schmeling, E. Schmitt, G. Schulert, C. Schutt, C. Seper, B. Shaham, R. Sheets, A. Shehab, S. Shenoi, M. Sherman, J. Shirley, M. Shishov, N. Singer, V. Sivaraman, E. Sloan, C. Smith, J. Smith, E. Smitherman, J. Soep, M. B. Son, C. Spencer, L. Spiegel, J. Spitznagle, H. Srinivasalu, H. Stapp, A. Stephens, Y. Sterba Rakovchik, S. Stern, B. Stevens, R. Stevenson, C. Stingl, M. Stoll, E. Stringer, S. Sule, J. Sullivan, R. Sundel, M. Sutter, C. Swaffar, N. Swayne, T. Symington, G. Syverson, A.M. Szymanski, S. Taber, R. Tal, A. Tambralli, A. Taneja, T. Tanner, S. Tarvin, A. Taxter, M. Tesher, T. Thakurdeen, A. Theisen, G. Thieroff, B. Thomas, L. Thomas, N. Thomas, L. Timmerman, T. Ting, C. Todd, D. Toib, K. Torok, H. Tory, M. Toth, E. Treemarcki, S. Tse, T. Tse, C. Tsin, J. Twachtman‐Bassett, M. Twilt, T. Valcarcel, R. Valdovinos, A. Vallee, H. Van Mater, S. Vandenbergen, C. Varghese, N. Vasquez, P. Vega‐Fernandez, J. Verbsky, R. Verstegen, E. von Scheven, S. Vora, L. Wagner‐Weiner, D. Wahezi, S. Wakefield, B. Walker, S. Wallgren, H. Walters, M. Waterfield, J. Weiss, P. Weiss, E. Wershba, V. Westheuser, K. Widrick, C. Williams, S. Wong, S. Wooldridge, L. Woolnough, T. Wright, E. Wu, A. Yalcindag, R. Yeung, K. Yomogida, A. Zeft, Y. J. Zhang, Y. D. Zhao, Z. Zheng, A. Zhu, C. Zic +448 morewiley +1 more source
