Results 231 to 240 of about 380,300 (294)

Abnormal Newborn Screening Resembling Carnitine Palmitoyltransferase 1a Deficiency in Three Patients With <i>COASY</i> Protein Associated Neurodegeneration. [PDF]

JIMD Rep
Lynch M, Manoy S, Murray C, Wallace G, Pereira N, Price R, Inwood A, McGill J, Coman D.   +8 more
europepmc   +1 more source

A Robust Deep Temporal Causal Discovery Platform for Single‐Cell Gene Regulatory Network Reconstruction

Advanced Intelligent Discovery, EarlyView.
scTIGER2.0 is a deep‐learning framework that infers gene regulatory networks from single‐cell RNA sequencing data. By integrating correlation, pseudotime ordering, deep learning and bootstrap‐based significance testing, it reduces false positives and reveals directional gene interactions.
Nishi Gupta, Madison Dautle, Shaoqiang Zhang, Yong Chen   +3 more
wiley   +1 more source

Differences in cognitive performance and neuroanatomy according to Alzheimer's disease pathophysiology. [PDF]

Arq Neuropsiquiatr
Ribeiro IC, Gonçalves BC, Aventurato ÍK, Silva MCRD, Rizzi L, Rochetti ALG, Fernandes GBP, Cendes F, Balthazar MLF.   +8 more
europepmc   +1 more source

Digital Surface‐Enhanced Raman Scattering With Event Counting and Spectrum Learning for Label‐Free Protein Quantification

Advanced Intelligent Systems, EarlyView.
A statistical and machine learning‐assisted surface‐enhanced Raman scattering (SERS) framework is developed for label‐free quantification of low‐abundance analytes, including proteins. Combining digital SERS event counting with binomial regression and an artificial neural network (ANN) trained on full spectra, the approach achieves picomolar detection ...
Eni Kume, James Rice
wiley   +1 more source

Immune crosstalk in Alzheimer's and Parkinson's disease: insights from Drosophila models into the brain-peripheral immune axis. [PDF]

Front Immunol
Parvez F, Rahul.
europepmc   +1 more source

Swallowing and Communication in Cockayne Syndrome: Clinical Characteristics and Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cockayne syndrome (CS) is an ultrarare genetic disorder associated with genes encoding proteins involved in DNA repair. The clinical course of CS involves neurodevelopmental and neurodegenerative features, including swallowing and communication impairments.
Abigail M. Spoden, Katlyn E. McGrattan, Peter B. Kang   +2 more
wiley   +1 more source

'Sensory and Motor Neuroscience': Impacts of Thirteen Highly Cited Articles Published in This Section of <i>Brain Sciences</i> in 2024. [PDF]

Brain Sci
Murphy B.
europepmc   +1 more source

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi, Michael Kutsche, Helena Lichtenfeld, Fanny Kortüm, Angela Abicht, Laura Herrmann, Theresia Herget   +6 more
wiley   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source