Bi‐ and Mono‐Allelic RFC1 Expansion in a North American Cohort With Idiopathic Axonal Neuropathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective RFC1 biallelic repeat expansion is increasingly recognized as a cause of chronic idiopathic axonal polyneuropathy (CIAP), but it remains challenging to know who to test. This study aims to determine the prevalence of biallelic and monoallelic RFC1 expansions and their corresponding neuropathy phenotypes in CIAP patients and identify ...
Amro M. Stino +25 more
wiley +1 more source
Digital Cognitive Testing in Mitochondrial Disease: Validity and Challenges for Clinical Trial Use
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Primary mitochondrial disease is a group of genetic disorders caused by pathogenic variants in nuclear or mitochondrial DNA, often resulting in progressive neurodegeneration and cognitive decline. Current management is primarily supportive, though recent research offers hope for disease‐modifying treatments in the future.
Oksana Pogoryelova +9 more
wiley +1 more source
Ultrasonographic assessment of the renal size using a kidney length to vertebral body length ratio in cats. [PDF]
Front Vet Sci, 2022 Martinez M +4 more
europepmc +1 more source
Morphology as function of body length (BL) in nauplii.
, 2012 Regression lines are power laws fitted to the data. A) Aspect ratio (AR, body width/body length). Blue circles, T.
Christian Marc Andersen Borg (123627) +2 more
core +1 more source
Characterizing Cutaneous α‐Synuclein Deposition and Seeding Activity in Parkinson's Disease Subtypes
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Cutaneous phosphorylated α‐synuclein (p‐syn) and α‐synuclein seeding activity are promising biomarkers for Parkinson's disease (PD), but their clinical value remains uncertain due to disease heterogeneity. This study evaluates these two biomarkers in PD patients to inform phenotype‐specific diagnosis and disease severity assessment ...
Yuting Jin +8 more
wiley +1 more source
BSSRO Improves Mandibular Morphology Mainly through Correction of Body Length and Volume in Patients with Asymmetric Mandibular Prognathism. [PDF]
J Clin Med, 2022 Liu Y, Li Y.
europepmc +1 more source
Growth pattern for body weight, hip height and body length of Brakmas cattle
, 2014 The objective of this study was to determine the growth pattern for body weight, hip height and body length using non-linear model and the correlation between the parameters in Brakmas cows. Cross-sectional data of body weight, hip height and body length
A. W., Mohd Hafiz +2 more
core +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 +17 more
wiley +1 more source
Automated extraction of right whale morphometric data from drone aerial photographs
Remote Sensing in Ecology and ConservationAerial photogrammetry is a popular non‐invasive tool to measure the size, body morphometrics and body condition of wild animals. While the method can generate large datasets quickly, the lack of efficient processing tools can create bottlenecks that ...
Chhandak Bagchi +4 more
doaj +1 more source
WormRuler: A software to track body length used to characterize a super red-shifted channelrhodopsin in Caenorhabditis elegans. [PDF]
MicroPubl Biol, 2022 Seidenthal M +2 more
europepmc +1 more source