Results 141 to 150 of about 30,658 (264)
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann +23 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 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 sourceDigital Cognitive Phenotyping for Differential Diagnosis and Monitoring in Neurological Conditions
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
To assess the utility, accessibility, and equivalence to supervised scales of online cognitive assessment in older individuals with cognitive impairment. Methods
Patients with Alzheimer's disease (AD, n = 31), idiopathic normal pressure hydrocephalus (iNPH, n = 26), and traumatic brain injury (TBI, n = 23) completed online cognitive ...Martina Del Giovane, Valentina Giunchiglia, Michael C. B. David, Magdalena A. Kolanko, William R. Trender, Peter J. Hellyer, Harmeena Kaur, David J. Sharp, Christopher Carswell, Paresh A. Malhotra, Adam Hampshire +10 morewiley +1 more sourceDigital Cognitive Testing in Mitochondrial Disease: Validity and Challenges for Clinical Trial Use
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background
Primary mitochondrial disease is a group of genetic disorders caused by pathogenic variants in nuclear or mitochondrial DNA, often resulting in progressive neurodegeneration and cognitive decline. Current management is primarily supportive, though recent research offers hope for disease‐modifying treatments in the future.Oksana Pogoryelova, Jan Smeitink, Herma Renkema, Rosabeth White, Frankie Barton, Rachel Lyon, Jane Newman, Aye Moe, Yi Shiau Ng, Grainne Siobhan Gorman +9 morewiley +1 more sourceClaustrum Involvement in New Onset Refractory Status Epilepticus: A Systematic Review
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT
The claustrum sign is a distinctive neuroimaging finding characterized by bilateral T2/FLAIR hyperintensity of the claustrum, one of the most interconnected regions of the human brain. It was first described in new‐onset refractory status epilepticus (NORSE) and febrile infection–related epilepsy syndrome (FIRES).Margherita Burani, Lorenzo Muccioli, Giada Giovannini, Niccolò Orlandi, Francesca Bisulli, Stefano Meletti +5 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 sourceClinical, Histologic, and Serological Predictors of Renal Function Loss in Lupus Nephritis
Arthritis Care &Research, EarlyView.Objective
Kidney survival is the ultimate goal in lupus nephritis (LN) management, but long‐term predictors remain inadequately studied, requiring long‐term follow‐up. This study aimed to identify baseline and early longitudinal predictors of kidney survival in the Accelerating Medicines Partnership LN longitudinal cohort.Shangzhu Zhang, Laurence Magder, Daniel Goldman, Judith A. James, Joel M. Guthridge, Carla Guthridge, Peter Izmirly, Jill P. Buyon, H. Michael Belmont, Richard A. Furie, Noa Schwartz, Chaim Putterman, Jennifer L. Barnas, Jennifer H. Anolik, Sarah French, Maria Dall'Era, Avi Z. Rosenberg, Jeffrey Hodgin, Dawit S. Demeke, the Accelerating Medicines Partnership Rheumatoid Arthritis and Systemic Lupus Erythematosus (RA/SLE) Network, Michelle Petri, Andrea Fava +21 morewiley +1 more source
