Results 191 to 200 of about 127,668 (260)

Functional profiling of 2,193 ASS1 missense variants: Insights into variant pathogenicity and epistatic interactions in citrullinemia type I. [PDF]

PLoS Genet
Lo RS, Cromie GA, Tang M, Sirr A, Caldovic L, Morizono H, Ah Mew N, Gropman A, Dudley AM.   +8 more
europepmc   +1 more source

Baseline Neuroinflammation Stratifies TSPO‐PET Response to Disease‐Modifying Therapy in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To investigate which baseline clinical and imaging characteristics best predict TSPO‐PET‐measurable reduction in glial activation following treatment of multiple sclerosis (MS), to utilize this information for designing more efficient biomarker‐based clinical trials targeting glial activation.
Marlene T. Morch, Markus Matilainen, Giulia N. Baldrighi, Marjo Nylund, Maija Saraste, Laura Airas   +5 more
wiley   +1 more source

Microbial Primer: Understanding the exponential growth of epidemics. [PDF]

Microbiology (Reading)
King KC, Saad-Roy CM, Coombs D, Ashby B.
europepmc   +1 more source

Deep Learning Pose Estimation for Phenotyping of Co‐Occurring Hyperkinetic Movement Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To explore whether routine outpatient video combined with deep learning‐based pose estimation and clinically interpretable kinematic features can support multi‐label phenotyping of co‐occurring hyperkinetic movement disorders (HMDs).
Laura Cif, Diane Demailly, Gabriella A. Horvàth, Juan Dario Ortigoza Escobar, Nathalie Dorison, Mayté Castro Jiménez, Cécile A. Hubsch, Thomas Wirth, Gun‐Marie Hariz, Sophie Huby, Morgan Dornadic, Zohra Souei, Muhammad Mushhood Ur Rehman, Simone Hemm, Mehdi Boulaymen, Eduardo M. Moraud, Jocelyne Bloch, Xavier Vasques   +17 more
wiley   +1 more source

Gut microbial bile salt hydrolase as a metabolic gatekeeper in digestive homeostasis and disease. [PDF]

Front Immunol
Chu H, Song X, Liu C, Ma T, Cui W.
europepmc   +1 more source

Gravity‐Dependent Modulation of Downbeat Nystagmus: Insights From Velocity‐Storage Dysfunction

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Downbeat nystagmus varies with head position, a phenomenon termed gravity‐dependent modulation. We aimed to clarify its mechanism using a velocity‐storage model. Methods In 10 patients with downbeat nystagmus due to cerebellar disorders, we recorded eye movements at different pitch‐ and roll‐axis head positions.
Ji‐Hyung Park, Eun‐Hyuk Choi, Jorge Otero‐Millan, David S. Zee, Jeong‐Yoon Choi, Ji‐Soo Kim   +5 more
wiley   +1 more source

Clinical validation of a high-performance somatic exome sequencing assay: from target-enrichment strategy to variant calling. [PDF]

NPJ Genom Med
Tsuji J, Rickles-Young M, Abreu J, Friedman A, Petersen C, Bryan J, Scheffler K, O'Connell T, Heyns T, Malolepsza E, Fleharty M, Larkin K, Livak KJ, Li S, Reardon DA, Wu CJ, Ott PA, Dao F, Rehm H, Jan M, Stewart C, Getz G, Jain V, Catreux S, Cibulskis C, Lennon N.   +25 more
europepmc   +1 more source

Modern Management of Asymptomatic Carotid Stenosis: A Meta‐Analysis of CREST‐2, SPACE‐2, and ECST‐2

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Recent randomized trials (CREST‐2, SPACE‐2, and ECST‐2) have compared carotid revascularization (carotid endarterectomy [CEA] or carotid artery stenting [CAS]) plus contemporary medical therapy (CMT) versus CMT alone in asymptomatic carotid stenosis.
Aasim Ali, Waqar Ahmed Cheema, Fiza Nisar, Muhammad Shamoon, Sameen Sarfaraz, Ahmad Butt, Muhammad Abdullah Ali, Armaghana Abdullah, Muhammad Asad Shabbir, Muhammad Talha, Hammad Azam, Aimen Anwaar Pannun, Usama Saleem, Anousha Tanveer, Mukesh Sharma   +14 more
wiley   +1 more source

Thermodynamic metabolic modeling of growth and bioproduction potential of the acetogen <i>Acetobacterium woodii</i> with and without redox cofactor swaps. [PDF]

Synth Syst Biotechnol
Bauer J, von Kamp A, Pflügl S, Klamt S.
europepmc   +1 more source

Global Rather Than Vertical‐Selective Saccadic Abnormalities in Progressive Supranuclear Palsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To test whether vertical saccades are preferentially affected in Progressive Supranuclear Palsy (PSP). Methods PSP patients (n = 24) were compared to age‐matched controls (n = 94) and two degenerative groups (Alzheimer's disease, n = 20; Lewy body disease, n = 50).
Duy Duan Nguyen, Mark Paine, Soohyun Lee, Amir Fazlollahi, Baibin (Ben) Wang, John D. O'Sullivan, Peter J. Nestor   +6 more
wiley   +1 more source