Results 131 to 140 of about 251,655 (262)

Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce   +72 more
wiley   +1 more source

Measurement of schizophrenia symptoms through speech analysis from PANSS interview recordings. [PDF]

open access: yesFront Psychiatry
Worthington M   +10 more
europepmc   +1 more source

Remote data collection speech analysis in people at risk for Alzheimer's disease dementia: usability and acceptability results. [PDF]

open access: yesFront Dement, 2023
Gregory S   +13 more
europepmc   +1 more source

Speech Sentiment Analysis

open access: yesInternational Research Journal of Modernization in Engineering Technology and Science, 2023
openaire   +1 more source

Von Economo Neuron Loss in Frontotemporal Dementia: A Meta‐Analysis of Neuropathological Studies

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Von Economo neurons (VENs) have been reported to be vulnerable to neurodegeneration in frontotemporal dementia (FTD), particularly the behavioral variant (bvFTD), but these findings have not been systematically assessed across independent brain banks.
Daniel Talmasov   +2 more
wiley   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling   +16 more
wiley   +1 more source

Unravelling head tremor mechanisms: insights from speech analysis in essential tremor and cervical dystonia. [PDF]

open access: yesJ Neural Transm (Vienna)
Rusz J   +8 more
europepmc   +1 more source

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