Results 161 to 170 of about 1,196,310 (302)

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

Chronic Ankle Instability and Low Back Pain: A Narrative Review With a Conceptual Framework Linking Distal and Proximal Sensorimotor Dysfunction. [PDF]

Physiother Res Int
Abdallah EA, Elshinnawy AM, Abdelhaleem MD.   +2 more
europepmc   +1 more source

Evaluation of Dried Plasma Spot‐Based Quantification of Glial Fibrillary Acidic Protein as a Disease‐Associated Biomarker in Neuromyelitis Optica Spectrum Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate the diagnostic accuracy of glial fibrillary acidic protein (GFAP) measured in dried plasma spots versus conventional plasma‐ and serum‐GFAP testing for assessment of disease severity in aquaporin‐4 immunoglobulin G–positive neuromyelitis optica spectrum disorder (AQP4‐IgG+ NMOSD).
Felix Wohlrab, Evelyn Alvarez, Roua Hamdi, Bingqing Zhang, Hayeun Ji, Niyati Jhaveri, Patrick Schindler, Pedro Sanchez, Pia S. Sperber, Tanja Schmitz‐Hübsch, Frederike C. Oertel, Nisa Vorasoot, Najib Kissani, Falko Böhringer, Jens Kuhle, Anne‐Katrin Pröbstel, Xiao‐Jun Ma, Péter Körtvelyessy, Patrick Waters, Friedemann Paul   +19 more
wiley   +1 more source

The Effectiveness and Security of the Tapered 4-Bladed Valvulotome (TF VenoCure2: VC) Used in Non-Reversed Translocated Saphenous Vein Bypass Surgeries. [PDF]

Ann Vasc Dis
Furuya T, Nagai M, Akai T, Nishimura T.
europepmc   +1 more source

Cerebrospinal Fluid Over Plasma Links Analytes to Cognitive Decline in Older Adults at Risk for Alzheimer's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To identify inflammatory analytes in cerebrospinal fluid (CSF) and plasma associated with cognitive decline in cognitively normal (CN) older adults at risk for Alzheimer's disease (AD). Methods In a longitudinal study of 118 CN older adults (65–80 years, 54% APOE ε4, 26% preclinical AD), 1331 CSF and 1501 plasma analytes were ...
Jagan A. Pillai, Audrey Zhu, Chunxuan Ma, Ming Wang, Yifan Yang, Lynn M. Bekris, Maria Khrestian, Frank P. DiFilippo, Mikhail Nasrallah, Aaron Burberry, James B. Leverenz, Yuan Hou, Feixiong Cheng, Stephen M. Rao   +13 more
wiley   +1 more source

Proximal Anastomosis for the Treatment of Acute Type A Aortic Dissection: An Operative Technical Note. [PDF]

J Clin Med
Follis M, Urbanowicz T, Segreto A, Pisano C, Morsolini M, Kowalewski M, Bellavia D, Raffa GM, Follis F.   +8 more
europepmc   +1 more source

microRNA‐7‐5p and α‐Synuclein SAA Predict Parkinson's Disease Phenoconversion

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Corroborate blood neuron‐derived extracellular vesicle (NDEV) alpha‐synuclein (αSyn), the CSF αSyn seed amplification assay (αSyn‐SAA), and blood microRNA‐7‐5p (miR‐7‐5p) as markers for Parkinson's disease (PD) phenoconversion and determine if combining these markers would help select subjects who would be more likely to phenoconvert.
Shayan Zadegan, Praveen Velammal, Kanmani Muthiah, Madhu Jatty, Christopher Adams   +4 more
wiley   +1 more source

Proximal spinal muscular atrophy: current orthopedic perspective

, 2013
Gerrit Haaker, Albert Fujak Department of Orthopaedic Surgery, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany Abstract: Spinal muscular atrophy (SMA) is a hereditary neuromuscular disease of lower motor neurons that is ...
Fujak A, Haaker G
core  

Biopsychosocial Determinants of Hand Function and Its Trajectories Over Five Years in Patients With Hand Osteoarthritis

Arthritis Care &Research, EarlyView.
Objective This study aimed to investigate hand function trajectories over five years in primary hand osteoarthritis (OA). Additionally, determinants of baseline and longitudinal hand function were assessed. Methods A total of 538 patients with both baseline and five‐year study visits were analyzed.
Annemiek V. E. M. Olde Meule, Coen van der Meulen, Jos Runhaar, Frits R. Rosendaal, Margreet Kloppenburg   +4 more
wiley   +1 more source

A Case of Proximal Humerus Fracture Metastasis due to Clear Cell Renal Carcinoma Treated With Modular Hemiarthroplasty. [PDF]

Case Rep Orthop
Puddu G, Piras M, Congia S.
europepmc   +1 more source