Results 211 to 220 of about 100,690 (267)

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Optimized Detection of Left Ventricular Hyperpolarized [1-¹³C]Pyruvate Signal in Human Cardiac Metabolic Imaging. [PDF]

Magn Reson Med
Khashami F, Dimitrov IE, Fuetterer M, Glöggler S, Zhang B, Tan E, Kozerke S, Henning A, Hussain T, Malloy CR, Unni N, Zaha VG, CTOX Trial Investigator(s).   +12 more
europepmc   +1 more source

Advancing Age Modulates Associations Between Cognitive Impairment and Brain Volumes in Early MS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Cognitive impairment is common in multiple sclerosis (MS), but manifestations following the first demyelinating event are relatively unexplored. We investigated cross‐sectional associations between magnetic resonance imaging (MRI)–derived brain volumes and the presence of cognitive impairment outcomes five years after the first ...
Piriyankan Ananthavarathan, Marco Pitteri, Michael Foster, Sara Collorone, Sara Salama, Elisa Colato, Ferran Prados, Baris Kanber, Marios Yiannakas, Claudia A. M. Gandini Wheeler‐Kingshott, Indran Davagnanam, Frederik Barkhof, Declan Chard, Olga Ciccarelli, Ahmed Toosy   +14 more
wiley   +1 more source

Anatomically constrained volumetric smoothing enhances fMRI reliability while avoiding smoothing artifacts. [PDF]

Front Neuroimaging
Ellis DG, Aizenberg MR.
europepmc   +1 more source

Prognostic Value of Neurofilament Light Chain and Glial Fibrillary Acidic Protein in ALD‐Related Myelopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background X‐linked adrenoleukodystrophy (X‐ALD) is a neurometabolic disorder caused by pathogenic variants in ABCD1, leading to slowly progressive spinal cord disease in nearly all affected men. Sensitive biomarkers to quantify disease severity and predict progression are needed for clinical care and trial design.
Eda G. Kabak, Marije M. C. Voermans, Hans Heijst, Charlotte E. Teunissen, Marc Engelen   +4 more
wiley   +1 more source

A Machine learning pipeline to investigate tissue ingrowth in cerebral aneurysms using preclinical animal models. [PDF]

Sci Rep
Afsari F, Ansari I, Martinez ME, Atchison L, Mimar S, Hosaka K, Hoh B, Sarder P.   +7 more
europepmc   +1 more source

Single-Operator Cancer Vision Goggles for Quantitative Near-Infrared Fluorescence-Guided Oncologic Surgery. [PDF]

IEEE Trans Biomed Eng
Xu X, Zhang H, Ta C, Zurutuza I, Blasi N, Gautam KS, Hongsermeier C, Trivedi V, Jovan J, Nussinov Z, Seidel A, Li F, Shen M, Leu W, Hite H, Dunn J, Buras W, Gao J, Sumer B, Akers WJ, Achilefu S.   +20 more
europepmc   +1 more source

Comparing Mean-anchored Generalized Linear Binning with Established Methods to Quantify Xenon-129 Ventilation Defect Percentage. [PDF]

Acad Radiol
Hussain R, Bdaiwi AS, Plummer JW, Masokano BI, Willmering MM, Walkup LL, Cleveland ZI.   +6 more
europepmc   +1 more source

Bridging classical and neural methods for improved segmentation in mathematical text based images. [PDF]

Sci Rep
Sakshi, Sharma C, Bhardwaj V, Aggarwal G.   +3 more
europepmc   +1 more source

Effects of electrocardiogram qrs detection algorithms in heart rate variability metrics. [PDF]

Sci Rep
Weinstein A, Rodiño J, Otero M.
europepmc   +1 more source