Results 131 to 140 of about 957,753 (218)

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

Cognitive decline and risk of stroke in older women: a cohort study. [PDF]

BMC Geriatr
Schulz RS, Glatz T, Buring JE, Kang JH, Kurth T, Rist PM.   +5 more
europepmc   +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

Barriers Associated with Help-Seeking for Stroke Symptoms Despite Public Awareness Campaigns: A Cross-Sectional Study. [PDF]

NeuroSci
Baig SS, Aziz M, Sara S, Ingram S, Majid A, Abbey E, Eaves LA, Sharrack N, Ali A, Redgrave JN.   +9 more
europepmc   +1 more source

Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan, Jordan Safran, Anna Loughman, Grace Lin, Shivanshi Vaid, Dana Allababidi, Peter M. Tessier, Louis T. Dang   +7 more
wiley   +1 more source

Use of a Molecular Signature Response Classifier to Inform Treatment Selection Improves Clinical Disease Activity Among Patients with Rheumatoid Arthritis Initiating a Biologic or Targeted Synthetic Disease‐Modifying Antirheumatic Drug

Arthritis Care &Research, EarlyView.
Objective We assessed the effectiveness of PrismRA to improve clinical outcomes among patients with rheumatoid arthritis (RA) initiating treatment with a biologic or targeted synthetic disease‐modifying antirheumatic drug (b/tsDMARD). Methods PrismRA incorporated 19 gene expression features and four clinical features to assess a patient's likelihood of
Fenglong Xie, Timothy Beukelman, Nicholas P. McCormick, Jeffrey R. Curtis   +3 more
wiley   +1 more source

Developing a core outcome set for intervention studies in post stroke cognitive impairment (COS-PSCI): a protocol. [PDF]

BMJ Open
Purcell S, Robinson K, O'Connor M, Salsberg J, Morrissey AM, Hayes S.   +5 more
europepmc   +1 more source

Evaluating a Pragmatic Strength Alternative for Frailty Measurement and Assessing Its Predictive Capacity Against Established Frailty Instruments in Rheumatoid Arthritis

Arthritis Care &Research, EarlyView.
Objective Frailty occurs prematurely in rheumatoid arthritis (RA) and is associated with poor health outcomes. We compared the performance of four frailty instruments, including a pragmatic alternative measure using chair sit‐to‐stand (STS), and evaluated their abilities to predict poor health outcomes.
Kylie E. Riggles, Hannah F. Brubeck, Adrienne D. Tanus, Courtney N. Loecker, Punyasha Roul, Bryant R. England, Elizabeth R. Wahl, James S. Andrews, Namrata Singh, Joshua F. Baker, Patricia P. Katz, Dolores M. Shoback, Jose M. Garcia, Ariela R. Orkaby, Katherine D. Wysham   +14 more
wiley   +1 more source

Transcarotid Artery Revascularization for Asymptomatic Carotid Stenosis: A Systematic Review and Meta-Analysis. [PDF]

Transl Stroke Res
Jiang ZC, Hu QF, Huang JM, Wang XW, Lin T, Gao XL, Cui JW, Zhao JL, Chen D, Li SP.   +9 more
europepmc   +1 more source

Formal and Informal Social Care in People With Rheumatic and Musculoskeletal Diseases: A Cross‐Sectional Multicenter Survey

Arthritis Care &Research, EarlyView.
Objective Rheumatic and musculoskeletal diseases (RMDs) are leading causes of physical disability, necessitating support with activities of daily living. This study describes social care received by patients with RMDs in two disparate regions of England: Salford (urban) and Norfolk (rural).
Mehreen Somro, Karen Durrant, William G. Dixon, John McBeth, Alex MacGregor, Max Yates, Jenny H. Humphreys   +6 more
wiley   +1 more source