Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
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
Multi-frequency SAR measurements to advance snow water equivalent algorithm development
Chris Derksen +8 more
openalex +1 more source
Design and Fabrication of Multi-Frequency and Low-Quality-Factor Capacitive Micromachined Ultrasonic Transducers. [PDF]
Moshrefi A, Ali A, Gratuze M, Nabki F.
europepmc +1 more source
Coherent multi-heterodyne spectroscopy using acousto-optic frequency combs
Vicente Durán +2 more
openalex +1 more source
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
Multi-Frequency Electrical Impedance Myography as a Predictor of Muscle Function in Older Adults. [PDF]
Mahato NK +4 more
europepmc +1 more source
Ketogenic Diet as an Epigenetic Therapy in SETD1B‐Related Epilepsy
ABSTRACT Histone lysine methyltransferases such as SETD1B regulate chromatin structure and gene transcription. Ketone bodies, including butyrate, act as histone deacetylase inhibitors. We report a 4‐year‐old boy with SETD1B‐related absence epilepsy, refractory to conventional medications, who achieved sustained > 90% seizure reduction on the Modified ...
Erica Tsang +10 more
wiley +1 more source
Propagation Characteristics of Multi-Frequency Arc-Shaped Flat-Plate Ultrasound in Xanthan Gum Viscous Systems and Its Influence on Rheological Properties. [PDF]
Zhang L +11 more
europepmc +1 more source
Posterior Cortical Atrophy in the Asia‐Pacific: A Report From the PCA Asian Workgroup
ABSTRACT Objective Posterior Cortical Atrophy (PCA) is a distinct dementia syndrome primarily affecting spatial abilities and visual processing. It is associated with degeneration in the posterior part of the brain. PCA is subclassified into PCA‐pure and PCA‐plus syndromes based on consensus criteria.
Yuttachai Likitjaroen +11 more
wiley +1 more source
Simulation Study on the Dynamics of Cavitation Bubbles in Multi-Frequency Ultrasound. [PDF]
Dong H, Liu G, Peng G.
europepmc +1 more source

