Results 221 to 230 of about 3,449,089 (306)

DeepMAP: Deep CNN Classifiers Applied to Optical Mapping for Fast and Precise Species-Level Metagenomic Analysis. [PDF]

open access: yesACS Omega
Abakumov S   +6 more
europepmc   +1 more source

Generalized Dystonia With Cervical Predominance in a Patient With a De Novo TCF20 Variant

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT TCF20 has been implicated in developmental delay and intellectual disability, with dystonia reported less frequently. We describe a woman in her early twenties with childhood‐onset learning difficulties, progressive dysarthria, tremor, and generalized dystonia with marked cervical predominance, associated with a de novo TCF20 frameshift ...
Melisa Kilic   +7 more
wiley   +1 more source

Evaluation of novel open-source software for cardiac optical mapping. [PDF]

open access: yesJ Mol Cell Cardiol Plus
Baines O, Sha R, Jatti S, O'Shea C.
europepmc   +1 more source

Early Clinical and Cerebrospinal Fluid Predictors of 1‐Year Recurrence in Autoimmune GFAP Astrocytopathy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Autoimmune glial fibrillary acidic protein astrocytopathy (GFAP‐A) is an inflammatory central nervous system disorder with variable outcomes. Relapse occurs in a subset of patients, but early predictors remain unclear. We aimed to identify admission‐available features associated with 1‐year recurrence and develop an interpretable ...
Qingting Hong   +10 more
wiley   +1 more source

Toward a Kinh Vietnamese Reference Genome: Constructing a De Novo Genome Assembly Using Long-Read Sequencing and Optical Mapping. [PDF]

open access: yesGenes (Basel)
Dung LT   +10 more
europepmc   +1 more source

microRNA‐7‐5p and α‐Synuclein SAA Predict Parkinson's Disease Phenoconversion

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Corroborate blood neuron‐derived extracellular vesicle (NDEV) alpha‐synuclein (αSyn), the CSF αSyn seed amplification assay (αSyn‐SAA), and blood microRNA‐7‐5p (miR‐7‐5p) as markers for Parkinson's disease (PD) phenoconversion and determine if combining these markers would help select subjects who would be more likely to phenoconvert.
Shayan Zadegan   +4 more
wiley   +1 more source

Glucagon‐Like Peptide‐1 Receptor Agonists in Multiple Sclerosis: A Topical Narrative Review

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The glucagon‐like peptide‐1 (GLP‐1) receptor agonists (RAs) are a relatively new class of drugs that were initially approved by the US Food and Drug Administration to improve glycemic control in patients with type 2 diabetes mellitus and, subsequently, weight reduction in patients with obesity.
Audrey Y. Chang, Farrah J. Mateen
wiley   +1 more source

Dual calcium-voltage optical mapping of regional voltage and calcium signals in intact murine RyR2-R2474S hearts. [PDF]

open access: yesJ Mol Cell Cardiol Plus
Li Y   +12 more
europepmc   +1 more source

Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Enrique Gonzalez Saez‐Diez   +5 more
wiley   +1 more source

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