Results 271 to 280 of about 175,050 (352)
Annals of Neurology, EarlyView.Objective Pathogenic variants in GNAO1 cause a spectrum of epilepsy, movement disorders, and developmental impairment. Clinical heterogeneity complicates prognosis and therapeutic development. We present the first longitudinal natural history study of GNAO1‐related disorders (GNAO1‐RD) to delineate phenotypic trajectories. Methods Sixty‐six individuals
Jana Domínguez‐Carral +52 more
wiley +1 more source
Alzheimer's Disease Co‐Pathology and Cognitive Impairment in Amyotrophic Lateral Sclerosis
Annals of Neurology, EarlyView.Objectives Amyotrophic lateral sclerosis (ALS) and Alzheimer's disease (AD) share neuropathological features, including tau, amyloid, and TDP‐43 pathology. This study investigated whether AD‐related pathological changes are associated with cognitive impairment ALS. Methods Cerebrospinal fluid (CSF total‐tau, phosphorylated‐tau, beta‐amyloid) and plasma
Elisabeth Kasper +29 more
wiley +1 more source
Retinal and optic nerve degeneration in α-mannosidosis. [PDF]
Orphanet J Rare Dis, 2018 Matlach J +5 more
europepmc +1 more source
Annals of Neurology, EarlyView.Objective Parkinson's disease (PD) is increasingly conceptualized as a disorder of large‐scale brain networks, yet whether and how frequency‐specific functional connectivity reorganizes across stages remains poorly understood. In this study, we used high‐density electroencephalography (EEG) to characterize cortico‐cortical functional connectivity ...
Matteo Conti +15 more
wiley +1 more source
Fungiform taste bud degeneration in C57BL/6J mice following chorda‐lingual nerve transection
, 2007 Nick A. Guagliardo, David L. Hill
openalex +2 more sources
Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy
Annals of Neurology, EarlyView.Objective Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy.
Luiza L. P. Ramos +46 more
wiley +1 more source
Retinal and optic nerve degeneration in liver X receptor β knockout mice. [PDF]
Proc Natl Acad Sci U S A, 2019 Song XY +8 more
europepmc +1 more source
The Anatomical Record, EarlyView.Abstract New data on the equine aortic valve obtained using advanced techniques is especially important given the greater availability of animal models for translational research. Here we characterized the morphological and morphometric aspects of the equine aortic valve from 60 healthy hearts collected at equine abattoirs.
Vitor Pires Pereira +3 more
wiley +1 more source
Axonal Protection by Tacrolimus with Inhibition of NFATc1 in TNF-Induced Optic Nerve Degeneration. [PDF]
Neurochem Res, 2019 Tsukahara C +4 more
europepmc +1 more source
The petrotympanic canal (Huguier canal): Evolutionary, anatomical, and medical perspectives
The Anatomical Record, EarlyView.Abstract The petrotympanic canal, traditionally referred to as Civinini's or Huguier's canal, represents an anatomical passage connecting the middle ear and temporomandibular joint (TMJ). Despite its early description, its structural complexity and functional significance have often been underestimated. In this study, we combined historical, anatomical,
Andrea Papini +8 more
wiley +1 more source