Results 131 to 140 of about 2,490 (267)

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 more
wiley   +1 more source

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 more
wiley   +1 more source

Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs, Marcel Naumann, Annaliis Lehto, Hanna Schön, Jens Kurth, Johannes Prudlo, Andreas Hermann, Elisabeth Kasper   +7 more
wiley   +1 more source

Validation of the Pediatric Arthritis Ultrasound Scoring System for the Elbow, Wrist, and Finger Joints in Children With Juvenile Idiopathic Arthritis

Arthritis Care &Research, EarlyView.
Objective We aimed to validate the Pediatric Arthritis Ultrasound Scoring System (PAUSS) for upper extremity joints in children with juvenile idiopathic arthritis (JIA). Methods Children with JIA were evaluated for elbow, wrist, or finger arthritis by clinical examination (CE) and musculoskeletal ultrasound (MSUS) with images scored according to the ...
Patricia Vega‐Fernandez, Pinar Ozge Avar‐Aydin, Kelly Rogers, Daniel J. Lovell, Jennifer Huggins, Alexei Grom, Hermine I. Brunner, Grant S. Schulert, Sheila T. Angeles‐Han, Mekibib Altaye, Amy Cassedy, Arthur B. Meyers, Tracy V. Ting   +12 more
wiley   +1 more source

Evaluation of a Novel Electric Health Record Sidecar Application to Display Rheumatoid Arthritis Clinical Outcomes During Clinic Visits: Results of a Stepped‐Wedge Cluster Randomized Pragmatic Trial

Arthritis Care &Research, EarlyView.
Objective We developed a novel electronic health record sidecar application to visualize key rheumatoid arthritis (RA) outcomes, including disease activity, physical function, and pain, via a patient‐facing graphical interface designed for use during outpatient visits (“RA PRO dashboard”).
Gabriela Schmajuk, Jing Li, Cathy Nasrallah, Cherish Wilson, Alicia Hamblin, Christine Hariz, Cammie Young, Stephen Shiboski, Emma Kersey, Mary Nakamura, Judith F. Ashouri, Mehrdad Matloubian, Andrew J. Gross, Jennifer Barton, Beth Berrean, Jonathan Prugh, Jinoos Yazdany   +16 more
wiley   +1 more source

Marked Long‐Term Improvement in Lung Function in Melanoma Differentiation–Associated Protein 5 Antibody–Positive Dermatomyositis Patients: Experience of a Single‐Center Longitudinal Cohort in North America

Arthritis Care &Research, EarlyView.
Objective The objective of this study was to describe the longitudinal disease course and pulmonary outcomes of North American patients with melanoma differentiation–associated protein 5 (MDA5) antibody–associated dermatomyositis (DM). Methods Thirty patients with MDA5 antibody–associated DM were identified in a single‐center longitudinal cohort of 352
Jenice X. Cheah, Sangmee S. Bae, Tiffany De Leon, Yuna Lee, Rong Guo, David Elashoff, Jennifer Wang, Ani Shahbazian, Christina Charles‐Schoeman   +8 more
wiley   +1 more source

Prevalence of Systemic Lupus Erythematosus in Australia, 2010–2022: A Population‐Based Study Using Linked National Administrative Health Data

Arthritis Care &Research, EarlyView.
Objective Systemic lupus erythematosus (SLE) is a heterogenous inflammatory condition with widely varying global prevalence estimates. The frequency of SLE in the general population of Australia has been reported to be notably lower than contemporary estimates in countries such as the United States or United Kingdom, at 19 to 39 per 100,000 as opposed ...
Lucinda Roper, Rachel Black, Joanna Tieu, Winnie Chen, Matthew Parker, Catherine Hill, Natasha Nassar, Mandana Nikpour   +7 more
wiley   +1 more source

A binary-related origin mediated by environmental conditions for blue straggler stars. [PDF]

Nat Commun
Ferraro FR, Lanzoni B, Vesperini E, Dalessandro E, Cadelano M, Pallanca C, Beccari G, Nardiello D, Libralato M, Piotto G.   +9 more
europepmc   +1 more source

Trajectories of Physical Function in Canadian Children With Juvenile Idiopathic Arthritis

Arthritis Care &Research, EarlyView.
Objective We describe trajectories of physical function in children newly diagnosed with juvenile idiopathic arthritis (JIA) and identify trajectories with persisting functional impairments and associated baseline characteristics. Methods We included patients enrolled in the Canadian Alliance of Pediatric Rheumatology Investigators (CAPRI) Registry ...
Clare Cunningham, Meghan McPherson, Lillian Lim, Roberta A. Berard, Matthew Berkowitz, Jean‐Philippe Proulx‐Gauthier, Brian M. Feldman, Nicole Johnson, Dax G. Rumsey, Heinrike Schmeling, Lori B. Tucker, Thomas Loughin, Kristin M. Houghton, Jaime Guzman, for the Canadian Alliance of Pediatric Rheumatology Investigators (CAPRI) Registry Investigators, David A. Cabral, Gaëlle Chédeville, Ciarán M. Duffy, Kerstin Gerhold, Jaime Guzman, Linda Hiraki, Adam M. Huber, Heinrike Schmeling, Natalie J. Shiff, Lori B. Tucker, Julie Barsalou, Daniah Basodan, Michelle Batthish, Roberta A. Berard, Nicholas Blanchette, Gilles Boire, Roxana Bolaria, Alessandra Bruns, David A. Cabral, Sarah Campillo, Tania Cellucci, Mercedes Chan, Gaëlle Chédeville, Amieleena Chhabra, Julie Couture, Paul Dancey, Jean‐Jacques De Bruycker, Erkan Demirkaya, Muhammed Dhalla, Ciarán M. Duffy, Talal El Tal, Tommy Gerschman, Jaime Guzman, Liane Heale, Julie Herrington, Kristin M. Houghton, Adan M. Huber, Andrea Human, Nicole Johnson, Roman Jurencak, Bianca Lang, Claire LeBlanc, Lillian Lim, Lily S. H. Lim, Nadia Luca, Jeanine McColl, Tara McGrath, Tamara McMillan, Megan McPherson, Paivi Miettunen, Kimberly Morishita, Honyan Ng, Jonathan Park, Jean‐Philippe Proulx‐Gauthier, Johannes Roth, Evelyn Rozenblyum, Dax G. Rumsey, Heinrike Schmeling, Rosie Scuccimarri, Gordon Soon, Rebeka Stevenson, Elizabeth Stringer, Herman Tam, Lori B. Tucker, Marinka Twilt, Ruud H. J. Verstegen, Karen Watanabe Duffy   +81 more
wiley   +1 more source

The emergence of globular clusters and globular-cluster-like dwarfs. [PDF]

Nature
Taylor ED, Read JI, Orkney MDA, Kim SY, Pontzen A, Agertz O, Rey MP, Andersson EP, Collins MLM, Yates RM.   +9 more
europepmc   +1 more source