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Common Variants in Alzheimer’s Disease and Risk Stratification by Polygenic Risk Scores
(Springer, 2021-06-07)
Genetic discoveries of Alzheimer's disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical ...
Preclinical characterization of antagomiR-218 as a potential treatment for myotonic dystrophy
(Elsevier, 2021-12-03)
Myotonic dystrophy type 1 (DM1) is a rare neuromuscular disease caused by expansion of unstable CTG repeats in a non-coding region of the DMPK gene. CUG expansions in mutant DMPK transcripts sequester MBNL1 proteins in ...
Quantifying the patients perspective in neuromyelitis optica spectrum disorder: Psychometric properties of the SymptoMScreen questionnaire
(Public Library Of Science, 2021-07-29)
BACKGROUND: The assessment of self-reported outcomes in neuromyelitis optica spectrum disorder (NMOSD) is limited by the lack of validated disease-specific measures. The SymptoMScreen (SyMS) is a patient-reported questionnaire ...
Percepciones y vivencias de escolares de 7 a 8 años del País Vasco durante la alerta sanitaria COVID-19
(2020-01)
Objective: To explore the experiences of schoolchildren in an exceptional health alert situation in which strict confinement measures have been applied to the population.Method: Qualitative exploratory study through the ...
Oral and Palmitate Paliperidone Long-Acting Injectable Formulations’ Use in Schizophrenia Spectrum Disorders: A Retrospective Cohort Study from the First Episode Psychosis Intervention Program (CRUPEP)
(Oxford University Press, 2021)
Background: Long-acting injectable antipsychotics (LAIs) may be a suitable therapeutic option for those patients in earlier stages of psychosis to avoid relapses and disease progression. Despite that, there is a lack of ...
Variations of telencephalic development that paved the way for neocortical evolution
(Elsevier, 2020-11)
Charles Darwin stated, "community in embryonic structure reveals community of descent". Thus, to understand how the neocortex emerged during mammalian evolution we need to understand the evolution of the development of the ...
External surface anatomy of the postfolding human embryo: Computer-aided, three-dimensional reconstruction of printable digital specimens
(2021-12)
Opportunities for clinicians, researchers, and medical students to become acquainted with the three-dimensional (3D) anatomy of the human embryo have historically been limited. This work was aimed at creating a collection ...
A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases
(Wiley, 2020-01)
Objective To identify causative mutations in a patient affected by ataxia and spastic paraplegia. Methods Whole-exome sequencing (WES) and whole-genome sequencing (WGS) were performed using patient's DNA sample. RT-PCR and ...
Embedding interactive, three-dimensional content in portable document format to deliver gross anatomy information and knowledge
(Wiley, 2021-09)
The Portable Document Format (PDF) is likely the most widely used digital file format for scholarly and scientific electronic publishing. Since format specification version 1.6, three-dimensional (3D) models in Universal ...
Local translation in nervous system pathologies
(Frontiers Media, 2021-06-29)
[EN] Dendrites and axons can extend dozens to hundreds of centimeters away from the
cell body so that a single neuron can sense and respond to thousands of stimuli.
Thus, for an accurate function of dendrites and axons ...