Results 121 to 130 of about 58,385 (334)

MTSS2‐Related Disorder: Refining the Phenotype in Four New Cases and Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTSS2 encodes a protein highly expressed in the central nervous system, with a crucial role in neurodevelopment. The de novo recurrent variant c.2011C>T (p.Arg671Trp) was first identified in 2022 as cause of Intellectual Developmental Disorder with ocular anomalies and distinctive facial features (OMIM#620086).
Angela De Dominicis   +12 more
wiley   +1 more source

Noise-induced and age-related hearing loss:  new perspectives and potential therapies [version 1; referees: 4 approved]

open access: yesF1000Research, 2017
The classic view of sensorineural hearing loss has been that the primary damage targets are hair cells and that auditory nerve loss is typically secondary to hair cell degeneration. Recent work has challenged that view.
M Charles Liberman
doaj   +1 more source

Radiate and Planar Multipolar Neurons of the Mouse Anteroventral Cochlear Nucleus: Intrinsic Excitability and Characterization of their Auditory Nerve Input

open access: yesFrontiers in Neural Circuits, 2017
Radiate and planar neurons are the two major types of multipolar neurons in the ventral cochlear nucleus (VCN). Both cell types receive monosynaptic excitatory synaptic inputs from the auditory nerve, but have different responses to sound and project to ...
Ruili Xie, Paul B. Manis, Paul B. Manis
doaj   +1 more source

Calibration and reference simulations for the auditory periphery model of Verhulst et al. 2018 version 1.2 [PDF]

open access: yesarXiv, 2019
This document describes a comprehensive procedure of how the biophysical model published by Verhulst et al. (2018) can be calibrated on the basis of reference auditory brainstem responses. Additionally, the filter design used in two of the model stages, cochlear nucleus (CN) and inferior colliculus (IC), is described in detail.
arxiv  

Alzheimer's Association clinical practice guideline for the Diagnostic Evaluation, Testing, Counseling, and Disclosure of Suspected Alzheimer's Disease and Related Disorders (DETeCD‐ADRD): Executive summary of recommendations for primary care

open access: yesAlzheimer's &Dementia, EarlyView.
Abstract US clinical practice guidelines for the diagnostic evaluation of cognitive impairment due to Alzheimer's disease (AD) or AD and related dementias (ADRD) are decades old and aimed at specialists. This evidence‐based guideline was developed to empower all—including primary care—clinicians to implement a structured approach for evaluating a ...
Alireza Atri   +10 more
wiley   +1 more source

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