Results 111 to 120 of about 25,617 (259)

Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT PPP2R5D‐related neurodevelopmental disorder (Houge–Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease‐modifying
Katerina Bernardi, Enrique Gonzalez Saez‐Diez, Joshua Rong, Beril Ay, Shabbir Merchant, Kathryn Yang, Darius Ebrahimi‐Fakhari   +6 more
wiley   +1 more source

Re‐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 more
wiley   +1 more source

Stage‐Dependent β‐Synuclein Links MRI and Cognitive Decline in Alzheimer's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Synaptic degeneration drives cognitive decline in Alzheimer's disease (AD), but synaptic biomarkers are scarce. Brain‐enriched β‐synuclein emerged as a synaptic damage marker. We investigated its diagnostic, prognostic, and structural correlates across the AD continuum.
Ulaş Ay, Merve Alaylioglu, Erdi Sahin, Sanem Sultan Yoruk Oner, Gulce Iskan, Gulce Cosku Yilmaz Cakan, Gozde Kizilates‐Evin, Emre Hari, Elif Kurt, Erdinc Dursun, Basar Bilgic, Hasmet Hanagasi, Hakan Gurvit, Tamer Demiralp, Duygu Gezen‐Ak, Bedia Samanci   +15 more
wiley   +1 more source

Troponin T and Neurofilament Light Chain Levels as Complementary Biomarkers of Disease Accumulation and Aggressiveness in Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a clinically heterogeneous neurodegenerative disease requiring reliable biomarkers to improve patient stratification and trial design. While serum neurofilament light chain (sNfL) reflects neuroaxonal stress and disease aggressiveness, troponin T (TnT) may capture complementary aspects of ...
Julia Sellin, Sofia Waldorf, Janina von der Gablentz, Torsten Grehl, Huelya Nazlican, Thomas Meyer, Julian Grosskreutz, Patrick Weydt, Sarah Bernsen   +8 more
wiley   +1 more source

Notes on Degeneracy and Robustness

CoRR
Degeneracy is the ability of structurally different elements to perform the same function or yield the same output under certain constraints. In contrast to redundancy, which implies identical backups, degeneracy allows diverse components to step in and perform the same or similar role.
Indrakshi Dey, Nicola Marchetti
openaire   +2 more sources

Associations of Sleep and Shift Work With Osteoarthritis Risk

Arthritis Care &Research, EarlyView.
Objective Daily rhythms may be critical for maintaining homeostasis of joint tissues. We aimed to investigate the relationships among circadian clock disruption, sleep, and osteoarthritis (OA) risk in humans. Methods In the UK Biobank, a prospective 500,000–person cohort, we evaluated associations among sleep duration, sleeplessness/insomnia, and shift
Elizabeth L. Yanik, Abigail Bridgeman, Erik D. Herzog, Vy Pham, Bradley A. Evanoff, Farshid Guilak   +5 more
wiley   +1 more source

Retractions in Rheumatology: Trends, Causes, and Implications for Research Integrity

Arthritis Care &Research, EarlyView.
Objective We aimed to describe the trends and main reasons for study retraction in rheumatology literature. Methods We reviewed the Retraction Watch database to identify retracted articles in rheumatology. We recorded the main study characteristics, authors’ countries, reasons for retraction, time from publication to retraction, and trends over time ...
Anna Maria Vettori, Michele Iudici
wiley   +1 more source

Perceived Impacts and Predictors of Cannabis Products Used by Patients with Rheumatologic Conditions in Alberta, Canada: A Multivariable Analysis of Cross‐Sectional Survey Data

Arthritis Care &Research, EarlyView.
Objective This study aimed to characterize cannabis product choices (cannabinoid content and formulation) among patients with rheumatologic conditions and their associations with patient factors, patient‐reported perceived side effects, and positive impacts.
Susan Zhang, Samuel A.J. Lowe, Frank Sun, Allyson Jones, Tarek Turk, Joanne Olson, Pauline Paul, Shelby Yamamoto, Linda Kolewaski, Elaine Yacyshyn, Cheryl A. Sadowski   +10 more
wiley   +1 more source

Individuals with Multi‐Joint Osteoarthritis Demonstrate Larger Longitudinal Declines in Frailty: Data from the Canadian Longitudinal Study on Aging

Arthritis Care &Research, Accepted Article.
Objective Test the hypothesis that multi‐joint osteoarthritis would modify the relation between time and frailty progression, where more affected joints would lead to larger declines over 6‐years compared to those without osteoarthritis using data from the Canadian Longitudinal Study on Aging.
Carson Halliwell, Rebecca Moyer, Myles W. O'Brien   +2 more
wiley   +1 more source

Extending Service Beyond Active Duty: Generalizability of Rheumatoid Arthritis Research Conducted Among U.S. Veterans

Arthritis Care &Research, Accepted Article.
Biomedical research involving United States Veterans continues to advance healthcare beyond the Veterans Health Administration. This is particularly true in rheumatoid arthritis (RA), where Veteran‐centric research has uncovered novel insights into pathogenesis, risk factors, and disease manifestations, informing clinical care and research across both ...
Austin M. Wheeler, Joshua F. Baker, Jennifer L. Barton, Maria I. Danila, Tate M. Johnson, Kamini Kuchinad, Kaleb Michaud, Amir A. Razmjou, J. Steuart Richards, Namrata Singh, Isaac D. Smith, Katherine D. Wysham, Grant W. Cannon, Bryant R. England, Amy Joseph, Deana Lazaro, Katherine P. Liao, Courtney Loecker, Andreas Reimold, Beth I. Wallace, Ted R. Mikuls   +20 more
wiley   +1 more source