Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero +15 more
wiley +1 more source
Comparison of simple graphical process models
Journal of Information and Organizational Sciences, 2012 Comparing structure of graphical process models can reveal different variations of processes. Since most contemporary norms for process modeling lean on directed connectivity of objects in the model, their connections structure form sequences which can ...
Katarina Tomicic-Pupek +2 more
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Graphical Representation of a Generalized Linear Model-Based Statistical Test Estimating the Fit of the Single-Hit Poisson Model to Limiting Dilution Assays [PDF]
, 2001 Thierry Bonnefoix +4 more
openalex +1 more source
Histone Deacetylase 6 Brain PET in Amyotrophic Lateral Sclerosis‐Frontotemporal Spectrum Disorder
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective [18F]EKZ‐001 is a positron emission tomography (PET) tracer targeting histone deacetylase 6 (HDAC6), an enzyme responsible for intracellular transport and clearance of misfolded proteins. HDAC6 modulation is a promising treatment strategy in neurodegenerative disorders, including amyotrophic lateral sclerosis (ALS).
Greet Vanderlinden +15 more
wiley +1 more source
Prediction and prevention of pandemics via graphical model inference and convex programming. [PDF]
Sci Rep, 2022 Krechetov M +4 more
europepmc +1 more source
Glycosylation Gene Signatures as Prognostic Biomarkers in Glioblastoma
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Glioblastoma (GBM) is an aggressive brain tumor characterized by significant heterogeneity. This study investigates the role of glycosylation‐related genes in GBM subtyping, prognosis, and response to therapy. Methods We analyzed mRNA expression data and clinical information from The Cancer Genome Atlas (TCGA) and Gene Expression ...
Tong Zhao +4 more
wiley +1 more source
GENI: A graphical environment for model-based control
, 1990 S.D. Kleban, Martin Lee, Y. Zambre
openalex +1 more source
Correctness of Belief Propagation in Gaussian Graphical Models of Arbitrary Topology [PDF]
, 2001 Yair Weiss, William T. Freeman
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Actionable Wearables Data for the Neurology Clinic: A Proof‐of‐Concept Tool
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Wearable devices can monitor key health and fitness domains. In multiple sclerosis (MS), monitoring step count and sleep is feasible, valid, and offers a holistic glimpse of patient functioning and worsening. However, data generated from wearables are typically unavailable at the point of care.
Nicolette Miller +12 more
wiley +1 more source
Spectron: Graphical Model for Interacting With Timbre
TecnoLógicas, 2009 The algorithms for creating and manipulating sound by electronic or digital means have grown in number and complexity since the creation of the first analog synthesizers.
Daniel Gómez
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