Results 131 to 140 of about 30,148 (300)
Plasma 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 sourceA 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT
Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to the abnormal accumulation of metabolic products such as methylmalonic acid, propionic acid,Wei Zhao, Yingli Zhang, Hongliang Zhengwiley +1 more sourceOnasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.Kayoko Saito, Kamal Benguerba, Ken Tsuchida, Kazushige Yazawa, Isao Tsumiyama, Hiromitsu Kayama, Sandra P. Reyna, Farid Khan, Richard S. Finkel +8 morewiley +1 more sourceProminent Movement Disorders in RNU2‐2‐Related Spliceosomopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT
Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...Magdalena Krygier, Ugo Sorrentino, Matias Wagner, Marta Zawadzka, Anna Lemska, Maria Mazurkiewicz‐Bełdzińska, Michael Zech +6 morewiley +1 more sourceThe Effect of Parenting Styles on Children Attachment Dimensions
فصلنامه خانواده پژوهی, 2014 The purpose of this study is to determine the effects of parenting style on prediction of children's attachment style. To achieve this aim, the study investigates whether different parenting styles (authoritative, authoritarian, permissive and neglectful)علي زيناليdoaj 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 sourceParenting styles in Rasht parents
Journal of Holistic Nursing and Midwifery, 2009 Introduction: The parenting styles used in different periods of childhood can have an effect on child personality evolution. Child and parents relationship in addition to comfort provision and feeling reinforcement like trust, confidence, security and independence, can be a predisposing factor for physical, psychological and especially ...mahshid mirzaie, minoomitra chehrzad, yasaman yaghoobi +2 moreopenaire +1 more sourceNFDI MatWerk Ontology (MWO): A BFO‐Compliant Ontology for Research Data Management in Materials Science and Engineering
Advanced Engineering Materials, EarlyView.This article presents the NFDI‐MatWerk Ontology (MWO), a Basic Formal Ontology‐based framework for interoperable research data management in materials science and engineering (MSE). Covering consortium structures, research data management resources, services, and instruments, MWO enables semantic integration, Findable, Accessible, Interoperable, and ...Hossein Beygi Nasrabadi, Ebrahim Norouzi, Kostiantyn Hubaiev, Jörg Waitelonis, Harald Sack +4 morewiley +1 more source