Results 101 to 110 of about 15,881 (257)
Unraveling 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 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 sourceRe‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT
Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...Moran Hausman‐Kedem, Noa Bielopolski, Vijai Krishnan, Shane Wald‐Altman, Shelly I Shrian, Omer Bar‐Yosef, Livia Kapusta, Claire Shamber, Patricia L. Musolino, Miguel Weil +9 morewiley +1 more sourceCumulative 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
