Results 41 to 50 of about 149,447 (299)
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Emerging evidence suggests that low‐frequency neural oscillations are dynamically regulated by consciousness levels, with the recovery of low cortical activity potentially serving as a neurophysiological substrate for conscious emergence. Targeted enhancement of these low‐frequency rhythms in patients with disorders of consciousness
Chuan Xu +10 more
wiley +1 more source
The neurophysiological approach to misophonia: Theory and treatment
Frontiers in Neuroscience, 2023 Clinical observations of hundreds of patients who exhibited decreased tolerance to sound showed that many of them could not be diagnosed as having hyperacusis when negative reactions to a sound depend only on its physical characteristics. In the majority
Pawel J. Jastreboff +2 more
doaj +1 more source
Elevated Connectivity During Language Processing Is Associated With Cognitive Performance in SeLECTS
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Self‐Limited Epilepsy with Centrotemporal Spikes (SeLECTS) is associated with language impairments despite seizures originating in the motor cortex, suggesting aberrant cross‐network interactions. Here we tested whether functional connectivity in SeLECTS during language tasks predicts language performance.
Wendy Qi +8 more
wiley +1 more source
SPG4 and Dementia: Expanding the Clinical Spectrum
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza +19 more
wiley +1 more source
ASSESSMENT OF PHYSICAL EFFICIENCY IN CHILDREN WITH HEARING DISORDERS
, 2013 Assessment of general physical efficiency in children with hearing organ impairment was researched with respect to the impairment degree. The research included 32 children suffering from hearing organ impairments of various degrees, in the Hearing ...
Bartosz Bolach +3 more
core +1 more source
Opioid Drugs and Sensorineural Hearing Loss [PDF]
Addiction and Health, 2018 -
Mahbobeh Oroei +2 more
doaj
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Otorhinolaryngology and Facial Plastic Surgery, 2016 Background: With the advancement of knowledge, increasing science production and competition, evaluation of scientific products becomes one of the challenging and undeniable necessary subjects.
Navid Ahmady Roozbahany, Omid Shafagh
doaj +1 more source
Neural Processing of Cognitive Control in an Emotionally Neutral Context in Anxiety Patients
Brain Sciences, 2021 Impaired cognitive control plays a crucial role in anxiety disorders and is associated with deficient neural mechanisms in the fronto-parietal network. Usually, these deficits were found in tasks with an emotional context.
Nicola König +4 more
doaj +1 more source